Journal of Medical Case Reports

Published by Springer Nature

Online ISSN: 1752-1947


Use of a porcine dermal collagen implant for contaminated abdominal wall reconstruction in a 105-year-old woman: A case report and review of the literature
  • Article
  • Full-text available

April 2015


42 Reads



Repair of contaminated abdominal wall defect in a geriatric patient is a challenge for the surgeon. We present the case of the oldest patient (105-years old) to successfully undergo a single-stage repair of a contaminated abdominal wall defect with a Permacol™ implant. A 105-year-old Caucasian woman presented to our emergency room with a clinical and radiological diagnosis of small bowel obstruction due to prior operative adhesions. She underwent laparotomy with small bowel resection and primary closure of her abdomen. There was total eventration of her bowel through the suture line 9 days after surgery. She underwent a second laparotomy that revealed no signs of peritonitis or turbid fluid. Her abdomen was closed with a 15×10cm Permacol™ implant sutured sublay with prolene sutures. Her postoperative period was unremarkable. After a follow-up period of 3 years and 2 months, there was no sign of recurrent hernia or wound contamination. We suggest that Permacol™ mesh can be considered an efficient alternative to primary closure or synthetic mesh in geriatric patients with contaminated abdominal wall defects.

View of the patient at age of 30 years. (A) Multiple hyperpigmented nevi at the trunk. (B,C) Multiple hyperpigmented nevi at the foot which was too short, showed a pes cavus and claw toes.
FISH results obtained on the chromosomes of the reported patient. (A) cenM-FISH revealed that the four sSMC were derivatives of chromosomes 6, 8, 11, and 12. (B-E) subcenM-FISH revealed absence of euchromatic material in sSMC derived from chromosomes 6, 8 and 11 and presence of centromere near material on the sSMC(12).
Four small supernumerary marker chromosomes derived from chromosomes 6, 8, 11 and 12 in a patient with minimal clinical abnormalities: A case report

August 2010


63 Reads



Ana Plasencia




Small supernumerary marker chromosomes are still a problem in cytogenetic diagnostic and genetic counseling. This holds especially true for the rare cases with multiple small supernumerary marker chromosomes. Most such cases are reported to be clinically severely affected due to the chromosomal imbalances induced by the presence of small supernumerary marker chromosomes. Here we report the first case of a patient having four different small supernumerary marker chromosomes which, apart from slight developmental retardation in youth and non-malignant hyperpigmentation, presented no other clinical signs. Our patient was a 30-year-old Caucasian man, delivered by caesarean section because of macrosomy. At birth he presented with bilateral cryptorchidism but no other birth defects. At age of around two years he showed psychomotor delay and a bilateral convergent strabismus. Later he had slight learning difficulties, with normal social behavior and now lives an independent life as an adult. Apart from hypogenitalism, he has multiple hyperpigmented nevi all over his body, short feet with pes cavus and claw toes. At age of 30 years, cytogenetic and molecular cytogenetic analysis revealed a karyotype of 50,XY,+min(6)(:p11.1-> q11.1:),+min(8)(:p11.1->q11.1:),+min(11)(:p11.11->q11:),+min(12)(:p11.2~12->q10:), leading overall to a small partial trisomy in 12p11.1~12.1. Including this case, four single case reports are available in the literature with a karyotype 50,XN,+4mar. For prenatally detected multiple small supernumerary marker chromosomes in particular we learn from this case that such a cytogenetic condition may be correlated with a positive clinical outcome.

Sagittal T1-weighted MRI. A large, fluid-density, multilobular cystic structure is seen roughly at the midline and extending to the level of the umbilicus. Although the cyst appears to originate on the right, it was discovered at laparotomy to be attached to the left fallopian tube.
Coronal T2-weighted MRI.
Histology of the resected mass shows a Graafian follicle and an inner lining of ciliated columnar epithelium, consistent with a benign cystadenoma derived from ovarian tissue.
Giant serous cystadenoma arising from an accessory ovary in a morbidly obese 11-year-old girl: A case report

February 2008


329 Reads

Ectopic ovarian tissue is an unusual entity, especially if it is an isolated finding thought to be of embryological origin. An 11-year-old, morbidly obese female presented with left flank pain, nausea, and irregular menses. Various diagnostic procedures suggested a large ovarian cyst, and surgical resection was performed. Histologically, the resected mass was not of tubal origin as suspected, but a serous cystadenoma arising from ovarian tissue. The patient's two normal, eutopic ovaries were completely uninvolved and unaffected. A tumor arising from ectopic ovarian tissue of embryological origin seems the most likely explanation. We suggest refining the descriptive nomenclature so as to more precisely characterize the various presentations of ovarian ectopia.

Figure 2 Investigation with computed tomography shows a 12×9×14mm tumor in the right lower pulmonary lobe in a 22year-old man with aggressive adrenocorticotropic hormonedependent Cushing's syndrome. Tumor indicated by an arrow.
Investigation with 11C-5-hydroxytryptophan positron emission tomography shows an 8mm tumor in the left lower pulmonary lobe in a 63-year-old woman with aggressive ectopic adrenocorticotropic hormone-dependent Cushing’s syndrome. Tumor indicated by an arrow.
Investigation with computed tomography shows a 12×9×14mm tumor in the right lower pulmonary lobe in a 22-year-old man with aggressive adrenocorticotropic hormone-dependent Cushing’s syndrome. Tumor indicated by an arrow.
Atypical or typical adrenocorticotropic hormone-producing pulmonary carcinoids and the usefulness of 11C-5-hydroxytryptophan positron emission tomography: Two case reports

March 2013


66 Reads

Introduction Pulmonary carcinoids associated with ectopic adrenocorticotropic hormone secretion have a good prognosis if histological examination shows typical pulmonary carcinoid and low proliferation, whereas a poor outcome is linked to atypical pulmonary carcinoid and high proliferation. Here we describe the diagnostic challenges to find the tumor in Cushing’s syndrome secondary to ectopic adrenocorticotropic hormone secretion in two cases with an atypical and a typical pulmonary carcinoid, respectively. Case presentation A 63-year-old Caucasian woman presented with aggressive clinical features related to Cushing’s syndrome, having very high levels of urinary cortisol and circulating adrenocorticotropic hormone and cortisol. Magnetic resonance imaging showed no pituitary tumor, and bilateral inferior petrosal sinus sampling revealed no central peripheral ratio of adrenocorticotropic hormone. Computed tomography and 111Indium-pentetreoide somatostatin receptor scintigraphy could not visualize any ectopic tumor. The patient was referred for an 11C-5-hydroxytryptophan positron emission tomography, and a small 8mm nodule in her left lung was found. The tumor was removed via a lateral thoracic incision and wedge excision. The histological examination showed an atypical carcinoid with Ki-67 index of 9 to 10%, and an additional lobectomy was performed. The second patient, a 22-year-old Caucasian man, also presented with aggressive Cushing’s syndrome, with very high urinary cortisol levels and increased circulating cortisol as well as adrenocorticotropic hormone levels. A magnetic resonance imaging scan of the pituitary showed no tumor, whereas a 12×9×14mm tumor was detected in the right lung on the primary computed tomography scan and no further investigation was performed. The tumor was removed via a lateral thoracic incision and wedge excision. A typical carcinoid with Ki-67 index of 1 to 2% was found and no further surgery was performed. After surgical removal, the biochemical disturbances resolved and significant clinical improvement were achieved in both patients after 24 months of follow up. Conclusions Diagnostic evaluation time is limited due to the aggressive course in ectopic adrenocorticotropic hormone-dependent Cushing’s syndrome. We suggest that 11C-5-hydroxytryptophan positron emission tomography could be considered early as a secondary diagnostic tool when primary computed tomography and/or magnetic resonance imaging scans fail to show any tumor.

Figure 1 (See legend on next page.)
Immunohistological (A-L) and immunoblotting (M-N) results. AC: frontal cortex; DF: temporal cortex; GL: cerebellum. Spongiform change in the frontal (A) and temporal (D) cortex and molecular layer of the cerebellum (G, H) is accompanied by moderate neuronal loss in cortex (A, D) and torpedoes in the granular layer of the cerebellum (I). PrP-immunoreactive (PrP-ir) deposits are seen in the cerebral cortex and cerebellum (B, E, J). PrP-ir is largely reduced in the cerebral cortex after proteinase K (PK) treatment, except for small PrP-ir dots following a dot-like or target-like pattern (C, F). By contrast, PrP-ir in the molecular layer of the cerebellum, in the form of elongated plaque-like deposits, is preserved after PK treatment (K, L); PrP plaques in the granular layer are absent. Paraffin sections: A, D, G, H: hematoxylin and eosin staining; I: phosphorylated neurofilament immunohistochemistry; B, C, E, F, JL: PrP immunostaining (3F4 antibody) without (B, E, J) and with (C, F, K, L) PK treatment. A, D, G, J, K, L: × 200 (bar in L, 100μm); B, C, E, F, H, I: × 400 (bar in I, 50μm). PK was used according to the indications of the supplier: 1 drop of PK concentrate (DAKO, S2019) in 1.6mL of DAKO ChemMate TM PK diluent (S2032) for 15 minutes. M: Routine immunoblotting conditions (10% brain homogenate and final PK concentration of 440μg/mL) as described elsewhere [5] and five minutes of film exposure time. PK pretreated brain regions corresponded to occipital cortex (lane 1), putamen/globus pallidus (lane 2), cerebellum (lane 3), parietal cortex (lane 4), thalamus (lane 5), frontal cortex (lane 6), temporal cortex (lane 7), sporadic Creutzfeldt–Jakob disease (sCJD) VV2 reference case occipital cortex (lane 8). N: Immunoblotting of PK pretreated samples with less stringent conditions (TeSeE® Western Blot Kit, Bio-Rad) and detection with 3F4 antibody (Dako, dilution 1:3000) as previously described [5] at ten minutes film exposure time. Brain regions corresponded to occipital cortex (lane 1), cerebellum (lane 2), parietal cortex (lane 3), thalamus (lane 4), frontal cortex (lane 5), temporal cortex (lane 6), variably protease-sensitive prionopathy 129MV parietal cortex (lane 7) [5] and sCJD VV2 reference case frontal cortex (lane 8). Molecular weight standards are indicated in kDa: (M) SDS-PAGE Standards, broad range, Bio-Rad and (N) Precision Plus Protein Unstained Standards, Bio-Rad.
Coexistence of protease sensitive and resistant prion protein in 129VV homozygous sporadic Creutzfeldt-Jakob disease: A case report

October 2012


108 Reads

Introduction The coexistence of different molecular types of classical protease-resistant prion protein in the same individual have been described, however, the simultaneous finding of these with the recently described protease-sensitive variant or variably protease-sensitive prionopathy has, to the best of our knowledge, not yet been reported. Case presentation A 74-year-old Caucasian woman showed a sporadic Creutzfeldt–Jakob disease clinical phenotype with reactive depression, followed by cognitive impairment, akinetic-rigid Parkinsonism with pseudobulbar syndrome and gait impairment with motor apraxia, visuospatial disorientation, and evident frontal dysfunction features such as grasping, palmomental reflex and brisk perioral reflexes. She died at age 77. Neuropathological findings showed: spongiform change in the patient’s cerebral cortex, striatum, thalamus and molecular layer of the cerebellum with proteinase K-sensitive synaptic-like, dot-like or target-like prion protein deposition in the cortex, thalamus and striatum; proteinase K-resistant prion protein in the same regions; and elongated plaque-like proteinase K-resistant prion protein in the molecular layer of the cerebellum. Molecular analysis of prion protein after proteinase K digestion revealed decreased signal intensity in immunoblot, a ladder-like protein pattern, and a 71% reduction of PrPSc signal relative to non-digested material. Her cerebellum showed a 2A prion protein type largely resistant to proteinase K. Genotype of polymorphism at codon 129 was valine homozygous. Conclusion Molecular typing of prion protein along with clinical and neuropathological data revealed, to the best of our knowledge, the first case of the coexistence of different protease-sensitive prion proteins in the same patient in a rare case that did not fulfill the current clinical diagnostic criteria for either probable or possible sporadic Creutzfeldt–Jakob disease. This highlights the importance of molecular analyses of several brain regions in order to correctly diagnose rare and atypical prionopathies.

Cytogenetic cartogram of the case: 47, XYY, r(13)(p11q34). The arrowhead demonstrates the ring chromosome 13.
Genome-wide array comparative genome hybridization result: 13q33.2→qter deletion. There are three icons from top to down in total (a-c). (a) A scatter plot of a copy number; a gray point shows the copy number calculated from a probe set and a red point represents the mean copy number calculated from consecutive 100 probe sets. The baseline in the middle indicates the normal copy number level. Upward deviation from the baseline indicates amplification and downward departure from the baseline represents deletion. (b) A schematic of copy number variant (CNV) segments identified based on the segmentation algorithm. The blue color represents deletion CNV. (c) A diagram of the loss of heterozygosity (LOH).
Ring chromosome 13 syndrome characterized by high resolution array based comparative genomic hybridization in patient with 47, XYY syndrome: A case report

March 2011


288 Reads

The co-occurrence of ring chromosome 13 syndrome and 47, XYY syndrome in the same individual is rare. To the best of our knowledge, this is the first report of the co-existence of this kind of chromosome aberrations. At present, the deletion 13q syndrome is divided into three groups based on the deletion's location relative to chromosomal band 13q32. Group 1 (proximal to q32) and group 2 (including q32) have shown distinctive phenotypes including mental retardation and growth deficiency. Group 3 (q33-34 deletion) is defined by the presence of mental retardation but there is usually an absence of major malformations. We describe a 10-month-old Chinese Han boy presenting with severe mental retardation, profound congenital bilateral hearing loss with a terminal 13q33.2 deletion and multiple malformations. Routine chromosome analysis disclosed a de novo complex karyotype 47, XYY, r(13)(p11q34). Further investigation by high resolution array-based comparative genomic hybridization delineated an 8.5 Mb terminal deletion on the long arm of chromosome 13(13q33.2→q34). The co-occurrence of double syndromes in the same individual is rare and its clinical presentation is variable depending on the predominating abnormality or a combination of the effect of both. Hearing impairment is suggested as another new clinical feature to 13qter deletion. This case report will contribute to more accurate genetic counselling and provide further insight to the syndrome.

Thrombocyte count over a period of 60 days. After 12 days of plasma exchange treatments performed daily, therapy was intensified to a twice-daily schedule. Rituximab was administered for the first time at day 20 and then the drug was administered once weekly with a total of four dosages [8].
Differential diagnosis of thrombotic thrombocytopenic purpura-hemolytic uremic syndrome (TTP-HUS).
Idiopathic combined, autoantibody-mediated ADAMTS-13/factor H deficiency in thrombotic thrombocytopenic purpura-hemolytic uremic syndrome in a 17-year-old woman: A case report

December 2011


464 Reads

Thrombotic thrombocytopenic purpura-hemolytic uremic syndrome is a life-threatening condition with various etiopathogeneses. Without therapy approximately 90% of all patients die from the disease. We report the case of a 17-year-old Caucasian woman with widespread hematomas and headache. Due to hemolytic anemia, thrombocytopenia, and schistocytosis, thrombotic thrombocytopenic purpura-hemolytic uremic syndrome was suspected and plasma exchange therapy was initiated immediately. Since her thrombocyte level did not increase during the first week of therapy, plasma treatment had to be intensified to a twice-daily schedule. Further diagnostics showed markedly reduced activities of both ADAMTS-13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 - also known as von Willebrand factor-cleaving protease) and factor H. Test results for antibodies against both proteins were positive. While plasma exchange therapy was continued, rituximab was given once weekly for four consecutive weeks. After the last dose, thrombocytes and activities of ADAMTS-13 and factor H increased into the normal range. Our patient improved and was discharged from the hospital. Since no clinical symptoms/laboratory findings indicated a malignant or specific autoimmune-mediated disorder, the diagnosis made was thrombotic thrombocytopenic purpura-hemolytic uremic syndrome due to idiopathic combined, autoantibody-mediated ADAMTS-13/factor H deficiency.

Table 1 Chronology of events from onset of illness
Healing rash on the right pinna. Note wax at the entrance of the external auditory meatus. Skin rashes are difficult to visualize on pigmented skin [12].
The normal left pinna for comparison.
Full recovery of a 13-year-old boy with pediatric Ramsay Hunt syndrome using a shorter course of aciclovir and steroid at lower doses: A case report

August 2011


172 Reads

Reports on children with Ramsay Hunt syndrome are limited in the literature, resulting in uncertainty regarding the clinical manifestations and outcome of this syndrome. Treatment for Ramsay Hunt syndrome is usually with antivirals, although there is no evidence for beneficial effect on the outcome of Ramsay Hunt syndrome in adults (insufficient data on children exists). Here, we report a case of Ramsay Hunt syndrome occurring in a child who inadvertently received a lower dose of aciclovir and steroid administered for shorter than is usual. Our patient made a full recovery. A 13-year-old African boy presented to our out-patients department with an inability to move the right side of his face for one week. He had previously been seen by the doctor on call, who prescribed aciclovir 200 mg three times per day and prednisone 20 mg once daily, both orally for five days, with a working diagnosis of Bell's palsy. After commencement of aciclovir-prednisone, while at home, our patient had headache, malaise, altered taste, vomiting after feeds, a ringing sound in his right ear as well as earache and ear itchiness. Additionally, he developed numerous fluid-filled pimples on his right ear. On presentation, a physical examination revealed a right-sided lower motor neuron facial nerve palsy and a healing rash on the right pinna. On direct questioning, our patient admitted having had chicken pox about three months previously. Based on the history and physical examination, Ramsay Hunt syndrome was diagnosed. Our patient was lost to follow-up until 11 months after the onset of illness; at this time, his facial nerve function was normal. This case report documents the clinical manifestations and outcome of pediatric Ramsay Hunt syndrome; a condition with few case reports in the literature. In addition, our patient made a full recovery despite inadvertently receiving a lower dose of aciclovir and steroid administered for shorter than is usual.

Wrist brace.
Severe psychogenic tremor of both wrists in a 13-year-old girl treated successfully with a customized wrist brace: A case report

April 2011


45 Reads

Psychogenic movement disorders in childhood have been little researched. As there are few courses of treatment which have been evaluated, further examination and case studies about the treatment and clinical course of this rare occurrence of severe psychogenic tremor in childhood and adolescence are much needed. A 13-year-old Caucasian girl with tremor in both wrists, severe enough to prevent her from attending school, was sent to our hospital. After a complete neurological and psychiatric examination, in-patient child-psychotherapeutic treatment was started, with careful consideration given to both chronic and acute stress factors which constitute her performance and exam anxiety in school as well as the girl's parents' conflicted relationship. With the aid of a customized wrist brace our patient was able to go to school and write despite the presence of a marked tremor, which in turn reduced her avoidance behavior and exam anxiety. By the end of her in-patient treatment, the tremor was still noticeable, but markedly reduced in severity (reduction 80%). Two weeks after she was discharged from hospital, the tremor had completely disappeared. After careful clinical diagnostics, this kind of dissociative disorder should be treated appropriately with age-adapted cognitive-behavioral therapy to achieve positive and lasting benefits.

Enlarged pituitary gland at presentation. The enlarged pituitary gland measured 1.4cm in size and extended into the suprasellar cistern (green arrows, coronal and sagittal views on T1-weighted post-gadolinium images).
Normal pituitary on follow-up magnetic resonance imaging scan. Eighteen months after treatment with levothyroxine was initiated there was persistence of the enlarged sella (green arrows, coronal and sagittal views) with a normal positioned and sized pituitary gland including normal stalk and posterior bright spot (T1-weighted post-gadolinium images).
Primary hypothyroidism with growth failure and pituitary pseudotumor in a 13-year-old female: A case report

May 2013


1,471 Reads

Introduction Primary hypothyroidism is a well-known cause of poor linear growth in children. A rare finding with profound or long-standing disease is anterior pituitary enlargement (pituitary pseudotumor). This case highlights this uncommon finding, discusses clinical situations in which gradual dose escalation of levothyroxine may be advisable and reviews adjuvant therapies that have been previously attempted to improve final height in the setting of profound hypothyroidism. Case presentation We report the case of a 13-year-old Hispanic girl initially evaluated for poor linear growth and delayed puberty, and found to have pituitary enlargement secondary to profound primary hypothyroidism. Treatment with progressive doses of levothyroxine normalized her symptoms and led to complete resolution of her pituitary findings, but she then rapidly progressed through puberty, achieving an adult height of only 142cm, significantly below her calculated mid-parental height. Conclusions In cases of severe primary hypothyroidism with prolonged elevation of thyroid-stimulating hormone and pituitary pseudotumor, gradual replacement of thyroid hormone with slowly escalating doses of levothyroxine may be beneficial to prevent complications of therapy. Early recognition and treatment of hypothyroidism during childhood is essential for normal growth, as final height is invariably compromised in children with prolonged disease. Additional study is needed to determine the potential beneficial effects of gonadotropin-releasing hormone agonist and recombinant human growth hormone treatment in this setting.

Figure 1: Magnetic resonance image T2-weighted; 1: right horn of the uterus with drainage tube in place, 2: Left horn of the uterus, 3: Illustration of the configuration of the uterus in the present case.
Hematometra presenting as an acute abdomen in a 13-year-old postmenarchal girl: A case report

December 2012


472 Reads

Introduction Most underlying diseases for abdominal pain in children are not dangerous. However some require rapid diagnosis and treatment, such as acute ovarian torsion or appendicitis. Since reaching a diagnosis can be difficult, and delayed treatment of potentially dangerous diseases might have significant consequences, exploratory laparoscopy is a diagnostic and therapeutic option for patients who have unclear and potentially hazardous abdominal diseases. Here we describe a case where the anomaly could not be identified using a laparoscopy in an adolescent girl with acute abdomen. Case presentation A 13-year old postmenarchal caucasian female presented with an acute abdomen. Emergency sonography could not exclude ovarian torsion. Accurate diagnosis and treatment were achieved only after an initial laparoscopy followed by a laparotomy and after a magnetic resonance imaging scan a further laparotomy. The underlying disease was hematometra of the right uterine horn in a uterus didelphys in conjunction with an imperforate right cervix. Conclusion This report demonstrates that the usual approach for patients with acute abdominal pain may not be sufficient in emergency situations.

Parotid fistula secondary to suppurative parotitis in a 13-year-old girl: A case report

August 2010


1,473 Reads

The most common cause of parotid fistula is trauma, followed by malignancy, operative complications (parotidectomy or rhytidectomy) and infection. Acute suppurative parotitis can rarely produce parotid fistula. There are various treatment options available, however it is necessary to standardize the treatment according to the duration of history and the patient's general condition. A 13-year-old Indo-Caucasian girl presented to us with a two-year history of clear watery discharge from a wound just above and behind the angle of her right jaw. A diagnosis of salivary (parotid) fistula was made based on clinical examination and investigations. The parotid fistula was successfully managed. Parotid fistula secondary to suppurative parotitis is rare and difficult to manage successfully. Meticulous dissection, complete excision of the fistulous tract with closure of the parotid fascia and layered closure of the incision followed by application of a post-operative pressure bandage, anticholinergic agents and antibiotics contribute significantly to the successful management of this difficult clinical condition.

Figure 1: Normocellular bone marrow with mild dyserythropoiesis: diminished number of orthochromatic erythroblasts.
Table 1 Laboratory findings of the patient at the admission
Figure 2: Increase in hemoglobin after valproic acid suspension.
Anemia secondary to valproic acid therapy in a 13-year-old boy: A case report

August 2012


746 Reads

Valproic acid is a commonly used anti-epileptic drug. Hematological toxicities are among the occasionally observed adverse effects of this medication. We present the case of a 13-year-old Caucasian boy who demonstrated mild anemia 12 months after the introduction of valproic acid therapy. A bone marrow biopsy revealed maturation arrest of proerythroblasts. Prompt diagnosis and valproic acid discontinuation resulted in the patient's recovery.

Showing patient's skin color.
Showing patient's skin and hair color.
Childhood autism in a 13 year old boy with oculocutaneous albinism: A case report

February 2008


419 Reads

Hypomelanotic skin disorders like tuberous sclerosis and hypomelanosis of Ito that present with multiple systemic manifestations have been reported in association with childhood autism. Oculocutaneous albinism is another hypomelanotic skin disorder that rarely presents with multiple systemic manifestations. It is infrequently reported in association with childhood autism when compared to tuberous sclerosis and hypomelanosis of Ito. This article reports a case of co-morbid childhood autism and oculocutaneous albinism in a 13-year old boy from Nigeria in Sub-Saharan Africa. The observation in this case report and in two previous reports which documented association between oculocutaneous albinism and childhood autism both in the affected individuals and families of individuals with childhood autism, raises the question of a possible genetic and clinical association between oculocutaneous albinism and childhood autism. More family and genetic studies into the relationship between oculocutaneous albinism and childhood autism is desirable. This may provide useful clues into the etiology, prevention and management of childhood autism as well as oculocutaneous albinism.

Figure 1: An electrocardiogram performed after our patient's symptoms had resolved demonstrates sinus arrhythmia.
Palpitations following regular ibuprofen dosing in a 13-year-old girl: A case report

March 2010


257 Reads

The sensation of palpitations may either be the initial or the only symptom of cardiac arrhythmia. We describe a case of an apparent clear temporal relationship between standard ibuprofen dosing and palpitations. A review of the medical literature revealed this to be, to the best of our knowledge, the first reported case of this type. A 13-year-old Caucasian girl initially presented to our clinic with hamstring tendinitis. She was commenced on a medication regimen of paracetamol and ibuprofen. After the third ibuprofen dose, she experienced palpitations. These were associated with lower chest and/or upper abdominal discomfort, and a feeling of being hot and sweaty. Her symptoms ceased upon the cessation of ibuprofen therapy. Cardiac arrhythmia is a potentially fatal disorder that may exhibit heart palpitations as its initial (or only) symptom. The prompt recognition of the cause of the symptom can reduce mortality and morbidity associated with any underlying pathological processes. There is a need to investigate cases of recurrent palpitations so as to exclude underlying structural cardiac pathology and/or abnormal cardiac rhythm.

The F-18 fluorodeoxyglucose (FDG) positron emission tomography-computed tomography (CT) scan (A: axial view, B: coronal view) shows a focal increased FDG uptake lesion (maximum standardized uptake value, SUVmax = 6.5) (A, B). Chest CT scan shows an enhancing nodule measuring 1.3cm in the anterobasal segment of the right lower lobe (arrow) (C).
The tumor cells have large round to oval pale nuclei, intranuclear inclusion, intranuclear groove and abundant cytoplasm (hematoxylin and eosin × 400) (A). Immunohistochemical stain of thyroid transcription factor-1 reveals diffuse strong positivity in nuclei of tumor cells (B). Immunohistochemical stain of thyroglobulin shows positive result in cytoplasm of tumor cells (C).
The F-18 fluorodeoxyglucose positron emission tomography-computed tomography (CT) scan shows a newly appeared pulmonary nodule in the right lower lung (A). CT scan shows a 9mm well-defined enhancing nodule in the anterobasal segment of the right lower lung (arrow) (B).
Needle biopsied lung tissue shows well-formed glandular structures lined by tumor cells with large hyperchromatic nuclei (hematoxylin and eosin × 200).
Lung nodule detected by F-18 fluorodeoxyglucose positron emission tomography-computed tomography in patients with papillary thyroid cancer, negative 131I whole body scan, and undetectable serum-stimulated thyroglobulin levels: two case reports

October 2012


229 Reads

Unlabelled: Introduction: When a pulmonary nodular lesion is detected by F-18 fluorodeoxyglucose positron emission tomography-computed tomography in a patient with post-surgical papillary thyroid carcinoma with undetectable serum-stimulated thyroglobulin levels and negative 131I whole body scan, diagnosis and management of the nodule may be confusing. Case presentation: We describe two post-surgical patients with papillary thyroid carcinoma who showed pulmonary nodular lesions detected by F-18 fluorodeoxyglucose positron emission tomography-computed tomography. In both cases serum-stimulated thyroglobulin levels were undetectable and nodular lesions were not detected by 131I whole body scan. In the first case, a 64-year-old Asian woman showed one focal increased fluorodeoxyglucose uptake lesion in the right lower lobe of one of her lungs. Based on the histologic study, the pulmonary nodular lesion was diagnosed as a solitary pulmonary metastasis from papillary thyroid carcinoma. In the second case, a 59-year-old Asian woman showed a new pulmonary nodule in the right lower lobe. The computed tomography scan of her chest revealed a 9mm nodule in the anterior basal segment and another tiny nodule in the posterior basal segment of the right lower lobe. Six months later, both nodules had increased in size and miliary disseminated nodules were also seen in both lungs. Based on their histology, the pulmonary nodular lesions were considered to be primary lung adenocarcinoma. Conclusions: The present cases emphasize that physicians should be cautious and make efforts for an accurate diagnosis of pulmonary nodules detected on F-18 fluorodeoxyglucose positron emission tomography-computed tomography in patients with papillary thyroid carcinoma with no evidence of metastasis such as negative 131I whole body scan and undetectable stimulated serum thyroglobulin levels.

Cytomorphological bone marrow examination performed on the day of admission to our hospital showing a cellular marrow with dysplastic features in all three cell lines and elevated blast count of about 20%. A) This image displays micromegakaryocytes and Pseudo-Pelger cells as dysplastic features of the granulopoiesis. B) This image shows an increased blast count of 20% and Pseudo-Pelger cells. C) This image demonstrates the total deficiency of myeloperoxidase.
Cytogenetic analysis of bone marrow cells performed on the day of admission to our hospital demonstrating monosomy 7 and an accessorial translocation t (3;8). A) This image displays detection of monosomy 7 by fluorescence in-situ hybridization using a CEP 7 probe (Vysis, USA). Monosomy 7 was found in 78.5% of the examined metaphases. B) This image shows classical cytogenetic banding of a representative metaphase of the patient with glycogen storage disease type Ib. In total, 34 metaphases have been analyzed demonstrating a monosomy 7 in 33 metaphases and a translocation t (3;8)(q26;q24).
A patient with glycogen storage disease type Ib presenting with acute myeloid leukemia (AML) bearing monosomy 7 and translocation t(3;8)(q26;q24) after 14 years of treatment with granulocyte colony-stimulating factor (G-CSF): A case report

February 2008


254 Reads

Glycogen storage disease type Ib is an autosomal recessive transmitted disorder of glycogen metabolism caused by mutations in the glucose-6-phosphate translocase gene on chromosome 11q23 and leads to disturbed glycogenolysis as well as gluconeogenesis. Besides hepatomegaly, growth retardation, hypoglycemia, hyperlactatemia, hyperuricemia and hyperlipidemia, patients suffer from neutropenia associated with functional defects predisposing for severe infections. In order to attenuate these complications, long-term treatment with granulocyte colony-stimulating factor is common but this is associated with an increased risk for acute myeloid leukemia or myelodysplastic syndromes in patients with inherited bone marrow failures such as severe congenital neutropenia. Onset of these myeloid malignancies is linked to cytogenetic aberrations involving chromosome 7. In addition, granulocyte colony-stimulating factor is known to stimulate proliferation of monosomy 7 cells in vitro. To our knowledge, we report for the first time a case report of a patient with glycogen storage disease type Ib, who developed acute myeloid leukemia with a classical monosomy 7 and acute myeloid leukemia-associated translocation t(3;8)(q26;q24) after 14 years of continuous treatment with granulocyte colony-stimulating factor. A 28-year-old Turkish man with glycogen storage disease type Ib was admitted to our department because of dyspnea and increasing fatigue. He also presented with gum bleeding, bone pain in his legs, night sweats, recurrent episodes of fever with temperatures up to 39 degrees C and hepatosplenomegaly.A blood count taken on the day of admission showed pancytopenia and a differential count displayed 30% blasts. A bone marrow biopsy was taken which showed a hypercellular marrow with dysplastic features of all three cell lines, while blast count was 20%. Classical cytogenetic analyses as well as fluorescence in situ hybridization showed a monosomy 7 with a translocation t(3;8)(q26;q24). Based on these findings, the diagnosis of acute myeloid leukemia was made. Our observations suggest that bone marrow examinations including cytogenetic analysis should be carried out on a regular basis in patients with glycogen storage disease type Ib who are on long-term treatment with granulocyte colony-stimulating factor for severe neutropenia, since this treatment might also contribute to an increased risk for acute myeloid leukemia or myelodysplastic syndromes.

Table 1 Case reports of laparoscopic myomectomy performed during pregnancy: overview of the characteristics.
Subserous myoma, with its implantation base localized in the fundic right lateral region and a consistent adherence to the anterior abdominal wall.
The ischemic myoma at the beginning of the enucleation by bipolar electrosurgical device (PKS Plasmaspatula, Gyrus Medical Inc, Minneapolis, MN).
Myoma enucleation.
The uterus at the end of the intervention with the strangled and ischemic minimum residual tissue.
Laparoscopic myomectomy of a subserous pedunculated fibroid at 14 weeks of pregnancy: A case report

November 2011


5,737 Reads

Uterine leiomyomas are seen in 1.6% to 4% of pregnancies. With the increasing age of obstetric patients, more cases are being encountered during pregnancy. We report the case of a 31-year-old Caucasian woman with acute recurrent abdominal pain due to a subserous fundic myoma, measuring 48 × 52 × 63 mm, with an implantation base of 22 × 18 mm, which was successfully treated by laparoscopy at 14 weeks of pregnancy. At a gestational age of week 40, the patient spontaneously delivered a healthy 3216 g girl baby. As far as we know, this is the first reported case of laparoscopic myomectomy this early during a pregnancy. Our experience together with an analysis of cases reported in the literature suggests that myomectomy during pregnancy may be considered safe, but only in the hands of experienced laparoscopic surgeons. There are a few reports in the literature about laparoscopic myomectomy during the first half of pregnancy that demonstrate its feasibility in selected cases. Some technical tools could improve the procedure with a minimum of risk for the ongoing pregnancy.

Figure 1: Magnetic resonance imaging showing the giant lipoma (*) underneath the right gluteus maximus.
Figure 2: Magnetic resonance imaging (coronal view) showing the lipoma and the head of the right femur.
Figure 3: Surgical specimen (dimensions, 23 × 15 × 7 cm; weight, 1.5 kg).
Giant inframuscular lipoma disclosed 14 years after a blunt trauma: A case report

October 2008


995 Reads

Lipoma is the most frequent benign tumor of the soft tissue. This lesion is often asymptomatic except in cases of enormous masses compressing nervous-vascular structures. Although the diagnosis is mostly clinical, imaging tools are useful to confirm the adipose nature of the lesion and to define its anatomic border. Sometimes, lipomas may be the result of a previous trauma, such as in this patient. A 45-year-old man presented at our institution with a giant hard firm mass in the upper external quadrant of the right buttock disclosed after a weight loss diet. Subsequent magnetic resonance imaging showed a giant adipose mass developed beneath the large gluteal muscle and among the fibers of the medium and small gluteal muscles. When questioned on his medical history, the patient reported a blunt trauma of the lower back 14 years earlier. He underwent surgery and histological examination confirmed a giant lipoma. Lipomas might result from a previous trauma. It is hypothesized that the trigger mechanism is activated by cytokine and growth factors released after the trauma. We herein present an exceptional case of a giant post-traumatic lipoma which caused a painful compression on the right sciatic nerve.

X-ray of the skull showing a well defined area of radiodense shadow overlying the right frontal bone with sella appearing normal.
A computed tomography scan of the head showing a diffuse, homogeneously ill defined hyperdense lesion of size 2.9 × 5.3 cm (anteroposterior × thickness) involving the right orbit in its superior aspect with inferior and downward displacement of the right globe with extension into the anterior cranial fossa involving the right frontal region and the basal cistern region mainly on the right side.
Perimetry was also done and showed complete loss of vision on the right side with mean sensitivity (MS) 26.8, mean deviation (MD) -18.6 and pattern standard deviation (PSD) 2.2.
Frontal bone tuberculosis presenting with blindness in a 14-year-old girl: A case report

June 2009


353 Reads

The occurrence of tuberculosis in the flat bones of the skull is very rare. Only eight cases of tuberculosis of the frontal bone have been reported in the literature. A 14-year-old girl of Asian ethnicity presented with gradual loss of vision. A computed tomography scan of her head showed a diffuse, homogeneously ill-defined hyperdense lesion of size 2.9 x 5.3 cm (anteroposterior x thickness) involving the right orbit. Biopsy of the lesion confirmed the presence of epithelioid cells and Langerhans giant cells with caseous material. After surgical debridement with antitubercular treatment, the patient had an uneventful recovery. Although rare, tuberculosis can affect the flat bones of the skull. Tuberculosis of the frontal bone can be included in the differential diagnosis of blindness.

Histological and immunohistochemical findings. (a) The testicular parenchyma shows no evidence of lymphomatous involvement (hematoxylin-eosin, original magnification ×50). (b-c) Residual epididymal tubules are surrounded by a dense cellular infiltrate with a prevalent follicular architecture (hematoxylin-eosin, original magnification ×100 and ×630, respectively). The neoplastic cells strongly express CD20 (d) and CD10 (e) but are bcl-2 negative (f) (original magnification ×250).
Molecular findings. (a) Agarose gel electrophoresis to detect the rearrangement of the immunoglobulin heavy chain (IgH) rearrangement PCR products (semi-nested PCR). Lane 1: patient sample; lane 2: negative control (no DNA); lane 3: polyclonal control; lane 4: monoclonal control; lane MK: DNA ladder (501, 404, 331, 242, 190,147,111, 67, 34 bp fragments). (b) Agarose gel electrophoresis to detect BCL2/JH PCR products (nested PCR). Lane 1: negative control (no DNA); lane 2: patient sample; lane 3: BCL2 MBR positive control (plasmidic DNA containing BCL2/MBR rearrangement); lane MK: DNA ladder (501, 404, 331, 242, 190,147,111, 67, 34 bp fragments).
Primary follicular lymphoma of the epididymis positive for t(14;18)(q32;q21)/IGH-BCL2 and negative for BCL2 protein expression: A case report

January 2012


99 Reads

Non-Hodgkin lymphoma (NHL) can involve the paratesticular organs as the primary disease, as primary testicular lymphoma that secondarily involves the paratesticular structures, as the initial site of presentation of occult nodal disease or as the result of disease dissemination. Primary follicular lymphoma of the epididymis in an adult is extremely rare. Little is known about primary adult paratesticular/epididimal lymphomas. We report a rare case of primary follicular non-Hodgkin lymphoma of the epididymis in a 90-year-old Caucasian man who presented with a left scrotal mass. Bone marrow biopsy was negative and computed tomography of the total body revealed no evidence of extratesticular involvement. Macroscopically, the epididymis was replaced completely by a uniform mass. Histologic studies revealed a dense lymphoid infiltrate predominantly composed of centrocytes with admixed centroblasts. Immunohistochemical analyses demonstrated that neoplastic cells strongly expressed CD45RB, CD20, CD79a, bcl-6 and CD10; bcl-2 immunostaining was negative. Molecular studies showed the presence of the monoclonal IgH gene rearrangement and the IgH/BCL2 rearrangement. The lymphoma was classified as follicular lymphoma, low grade, grade 1-2. The patient subsequently underwent radical orchiectomy, did not receive chemotherapy and post-operative follow-up showed absence of disease recurrence. The case of primary follicular lymphoma of epididymis, reported here, is considered a very rare event. It is characterized by clinically indolent localized disease, a good clinical outcome, lack of expression of BCL2 protein and the presence of the t(14;18)(q32;q21)/IGH-BCL2. Even if it is a single case, the primary follicular lymphoma epididymis with t(14;18) could represent either a variant of the previously reported t(14;18)-negative primary paratesticular follicular lymphoma or a distinct biological entity. To report additional cases in the future would be helpful in resolving this question.

Premature ovarian failure in a woman with a balanced 15;21 translocation: A case report

June 2011


83 Reads

A case of premature ovarian failure with concomitant findings of Robertsonian translocation between 15 and 21 chromosomes is reported here. The aforementioned karyotypic aberration has not been reported in the context of premature ovarian failure to date. We present a case of premature ovarian failure in a 27-year-old infertile Kurdish Iranian woman with a Robertsonian 15;21 translocation. The diagnosis of premature ovarian failure of unknown etiology, but with karyotypic evidence of a balanced autosomal translocation, suggests the possible role of autosomal genes in the pathogenesis of ovarian follicular attrition.

Figure 1: X-ray of thorax. Right side atelectasis, pleural effusion, and broadened mediastinum.
Figure 2: Computed tomography scan of mediastinum. Massive mediastinal tumor mass.
Figure 3: Positron emission tomography computed tomography scan of mediastinum. Increased activity equaling the mediastinal tumor mass.
Unexpected finding of T-cell lymphoma in a previously healthy 16-year-old patient after a thorax trauma: a case report

November 2014


717 Reads

We describe the clinical course and emphasize the difficulties in diagnosing T-cell lymphoblastic lymphoma. The differential diagnostic difficulties have previously been described in regard to pneumonia, but to the best of the authors' knowledge this is the first case report to describe lymphoma in relation to trauma. A previously healthy 16-year-old Danish boy presented to our hospital with chest pain and accentuated protruding thoracic veins. Ten days prior to hospitalization he had suffered a blunt thoracic trauma while playing soccer. After drainage of an excessive amount of pleural fluid, he developed severe respiratory distress. A chest tube was inserted and he was transferred to a level 1 trauma centre. Here, a computed tomography scan unexpectedly revealed significantly swollen mediastinal and retroperitoneal lymph nodes, and he was later diagnosed with T-cell lymphoblastic lymphoma. This case emphasizes the importance of reacting to an unexplained large amount of pleural fluid after a patient suffers thoracic trauma and to consider possible underlying causes. This report is mainly addressed to emergency personnel, but it is also relevant to pediatricians, surgeons, anesthesiologists, and general practitioners.

Figure 1: Depiction of the path that pus from a perforated appendix follows en route to the scrotum. This is possible only in the presence of a patent processus vaginalis.
Unusual cause of a painful right testicle in a 16-year-old man: A case report

January 2011


442 Reads

Urgent surgical exploration of the scrotum of a child or teenager who presents with a painful and swollen testicle is paramount if testicular torsion is not to be missed. It is extremely rare for a non-scrotal pathology to present with acute scrotal signs. Here we present such a rare case and emphasize the importance of being aware of this potential clinical pitfall. A 16-year-old Caucasian man presented as a surgical emergency with a five to six hour history of a painful, red, and swollen right hemiscrotum. He also complained of vague lower abdominal pain, vomiting, and watery diarrhea. He had a temperature of 38.5°C and a tender, red, and swollen right hemiscrotum. The right testicle appeared elevated. He was mildly tender in his central and upper abdomen and less so in the lower abdomen. No convincing localizing abdominal signs were noted. He had an increased white cell count (15 × 109/L) and C-reactive protein (CRP; 300 mg/L). Urgent right hemiscrotal exploration revealed about 5 ml of pus in the tunica vaginalis and a normal testicle. A right iliac fossa incision identified the cause: a perforated retrocecal appendix. Appendectomy was performed, and both the abdomen and scrotum washed copiously with saline before closure. The patient made an uneventful recovery. Acute appendicitis presenting with scrotal signs due to a patent processus vaginalis is an extremely rare clinical entity. To date, fewer than five such cases have been reported in the medical literature. It is, therefore, extremely important to be aware of this unusual clinical scenario, as only a high index of suspicion will enable prompt, successful management of both the appendicitis and the scrotal abscess.

Barium swallow X-ray with small bowel follow-through demonstrating obstructed flow of contrast at the mid-third portion of the duodenum.
Computed tomography scan demonstrating compression of the duodenum between the patient's aorta (white arrow) and superior mesenteric artery (black arrow).
Unique challenges for appropriate management of a 16-year-old girl with superior mesenteric artery syndrome as a result of anorexia nervosa: A case report

November 2009


807 Reads

Nausea and vomiting in an adolescent, though common presenting symptoms, often pose a diagnostic and therapeutic challenge to the physician. When the diagnosis involves both medical and psychiatric components, management can be complex, especially in the current healthcare system in the United States. To the best of our knowledge, there have been no previous publications detailing successful management of a patient with anorexia nervosa and superior mesenteric artery syndrome. We report the case of a 16-year-old Caucasian girl who presented to our emergency department with nausea, abdominal pain, diminished appetite and vomiting. Her history and examination were notable for a 15 kg weight loss and diffuse abdominal tenderness. A barium swallow X-ray with small bowel follow-through and computed tomography scan demonstrated remarkable duodenal narrowing between the superior mesenteric artery and the aorta, consistent with superior mesenteric artery syndrome. Initial management focused on relieving the obstruction and supporting the nutritional needs of the patient. Further history confirmed a diagnosis of anorexia nervosa, requiring intensive psychiatric and medical management, and necessitating a multifaceted approach to patient care involving social work, multiple primary care physicians and subspecialists, insurance company representatives, and the patient's immediate family. This case illustrates important points regarding the pathogenesis of superior mesenteric artery syndrome in the setting of anorexia, and it highlights the complexities that arise when managing an adolescent with both medical and psychiatric needs, as well as outlining a viable solution. While superior mesenteric artery syndrome is an uncommon cause of small bowel obstruction, the general pediatrician and child psychiatrist should be aware of this complication of anorexia nervosa.

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