Journal of Medical Case Reports (J Med Case Rep)

Publisher: BioMed Central

Journal description

Journal of Medical Case Reports is a peer-reviewed open access journal that will consider any original case report that expands the field of general medical knowledge.

Current impact factor: 0.00

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5-year impact 0.00
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Website Journal of Medical Case Reports website
ISSN 1752-1947
OCLC 123234958
Material type Document, Periodical, Internet resource
Document type Internet Resource, Computer File, Journal / Magazine / Newspaper

Publisher details

BioMed Central

  • Pre-print
    • Author can archive a pre-print version
  • Post-print
    • Author can archive a post-print version
  • Conditions
    • Publisher's version/PDF may be used
    • Eligible UK authors may deposit in OpenDepot
    • Creative Commons Attribution License
    • Copy of License must accompany any deposit.
    • All titles are open access journals
    • 'BioMed Central' is an imprint of 'Springer Verlag (Germany)'
  • Classification
    green

Publications in this journal

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    ABSTRACT: The carpal scaphoid is the most commonly fractured carpal bone in young adults after a fall on an outstretched arm that results in acute dorsal flexion of the wrist. However, stress fractures of the scaphoid are relatively rare. To the best of our knowledge, we describe the first case in the literature of carpal scaphoid stress fracture in a tennis player. Case presentation An 18-year-old Japanese man who was an elite junior tennis player was referred to our hospital after radiography and computed tomography revealed a carpal scaphoid fracture. The patient presented with pain in the wrist joint and tenderness over the anatomical snuff-box with diffuse swelling and reduced active dorsal flexion and flexion of the right wrist. The patient was treated conservatively and resumed participation in competitive events 5 months after his initial presentation. In this case, the scaphoid stress fracture had resulted from repetitive practicing of the attacking backhand high volley, which involved excessive dorsal flexion of the wrist. Although rare, scaphoid stress fractures must be considered in tennis players with chronic wrist pain.
    Preview · Article · Dec 2016 · Journal of Medical Case Reports
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    ABSTRACT: Background: Myelodysplasia syndrome is a heterogeneous group of hematological disorders that are characterized by abnormal morphology and cytopenias of bone marrow elements. Azacitidine is a hypomethylating agent that is commonly used in treatment of myelodysplasia syndrome. We present an extremely rare case of cryptogenic organizing pneumonia following therapy with azacitidine and a review of the relevant literature. This is the fifth case of azacitidine-induced interstitial lung disease and the sixth one due to hypomethylating drugs; of interest, this is the first reported case that has occurred after the second cycle. Our case report highlights an important, potentially treatable and rare side effect of azacitidine and hypomethylating agents in general that might be overlooked by oncologists. Furthermore, our review of the literature showed heterogeneity in the clinical outcome which might, in part, be due to delay in initiating corticosteroids treatment. Case presentation: A 67-year-old white man presented with worsening shortness of breath and mild productive cough that started 1 week prior to his presentation. An initial chest X-ray showed infiltration of both lung fields. Radiographic findings of computed axial tomography, results of bronchoscopy and a lung biopsy were consistent with cryptogenic organizing pneumonia. The patient showed variable clinical response to steroids and he remained dependent on home oxygen. Conclusions: We concluded that there is a recognizable potentially life-threatening toxicity due to organizing pneumonia secondary to azacitidine in the setting of myelodysplasia syndrome treatment. This toxicity is not limited to the first cycle as in previous cases; furthermore, pleural effusion can be associated with this toxicity. Health care professionals should be aware of this recognizable side effect. Early recognition and timely management are critical to prevent permanent lung fibrosis.
    Preview · Article · Dec 2016 · Journal of Medical Case Reports
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    ABSTRACT: Tendinitis can be a presenting complaint in hypothyroidism, with symptomatic relief being obtained by appropriate management of the primary thyroid deficiency. To the best of our knowledge no other cases of spontaneous rupture of the long head of the biceps tendon during uncontrolled hypothyroidism have yet been reported. Case presentation This case report describes an unusual case of spontaneous rupture of the long head of the biceps tendon in a 48-year-old white woman with severe hypothyroidism. She described experiencing a sudden sharp pain and an audible pop in her right shoulder while using her personal computer. On physical examination she was positive for Yergason’s sign and a subsequent magnetic resonance imaging scan showed complete rupture of the long head of her biceps tendon. Laboratory tests revealed significantly elevated thyrotropin levels (>100 μIU/ml) and very low levels of both triiodothyronine (0.17 ng/ml) and free thyroxine (0.18 ng/dl). She was switched to a different thyroxin regimen with a progressive dosage increment. She declined surgical re-anchorage of the tendon but despite the discreet Popeye sign, her overall strength and shoulder function were satisfactory. After 2 months, she was found to be clinically euthyroid, having normal thyroid function tests (thyrotropin 2.95 μIU/mL, free thyroxine 1.07 ng/dl). At her last follow-up visit, 1 year post-injury, she reported nearly normal shoulder function in her daily activities and had a constant shoulder score of 93 points. The role of thyroid hormones in the synthesis and degeneration of collagen and in the proliferation and apoptosis of human tenocytes is discussed, providing a possible mechanism whereby hypothyroidism may lead to tendon tears. This report may have a greater impact among different subspecialties as it presupposes a high degree of awareness from internists, endocrinologists and orthopedic surgeons.
    Preview · Article · Dec 2016 · Journal of Medical Case Reports
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    ABSTRACT: The loss of CD20 protein expression after a rituximab-containing regimen is one of the resistance mechanisms in non-Hodgkin's lymphoma. Recently, it was reported that 5-azacitidine administration upregulates the expression of CD20 in CD20-negative B-cell acute lymphoblastic leukemia. Here we report a similar upregulation in a patient with follicular lymphoma who was treated with 5-azacitidine against secondary myelodysplastic syndrome. Case presentation A 69-year-old Japanese woman with follicular lymphoma with treatment-related myelodysplastic syndrome was negative for the CD20 antibody at the time of her relapse. After treatment of 5-azacytidine for her myelodysplastic syndrome, CD20 expression was upregulated in the follicular lymphoma cells in her peripheral blood. We also observed follicular lymphoma cell stimulation in her peripheral blood due to 5-azacytidine. Although partial, CD20 expression was upregulated after treatment with 5-azacitidine. However, CD20 expression was not re-upregulated after a second administration of 5-azacitidine and we also observed the risk of lymphoma cell stimulation due to 5-azacitidine.
    No preview · Article · Dec 2016 · Journal of Medical Case Reports
  • Nundia Louis · Robert Marsh
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    ABSTRACT: The etiology of cerebral cavernous malformation hemorrhage is not well understood. Causative physiologic parameters preceding hemorrhagic cavernous malformation events are often not reported. We present a case of an individual with sequential simultaneous hemorrhages in multiple cerebral cavernous malformations with a new onset diagnosis of hypertension. Case presentation A 42-year-old white man was admitted to our facility with worsening headache, left facial and tongue numbness, dizziness, diplopia, and elevated blood pressure. His past medical history was significant for new onset diagnosis of hypertension and chronic seasonal allergies. Serial imaging over the ensuing 8 days revealed sequential hemorrhagic lesions. He underwent suboccipital craniotomy for resection of the lesions located in the fourth ventricle and right cerebellum. One month after surgery, he had near complete resolution of his symptoms with mild residual vertigo but symptomatic chronic hypertension. Many studies have focused on genetic and inflammatory mechanisms contributing to cerebral cavernous malformation rupture, but few have reported on the potential of hemodynamic changes contributing to cerebral cavernous malformation rupture. Systemic blood pressure changes clearly have an effect on angioma pressures. When considering the histopathological features of cerebral cavernous malformation architecture, changes in arterial pressure could cause meaningful alterations in hemorrhage propensity and patterns.
    No preview · Article · Dec 2016 · Journal of Medical Case Reports
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    ABSTRACT: We reported two rare cases of congenital diaphragmatic hernia with abdominal wall closure defect, which were not associated with septum transversum diaphragmatic defects or Fryns syndrome. Case presentation Case 1: a Japanese baby boy was delivered at 37 weeks’ gestation by urgent cesarean section because of the diagnosis of severe fetal distress. Congenital diaphragmatic hernia with omphalocele was prenatally diagnosed with fetal ultrasound. A ruptured omphalocele was confirmed at delivery. A silo was established on the day of his birth; direct closure of his diaphragmatic defect and abdominal wall closure was performed on the fifth day after his birth. Trisomy 13 was confirmed by genetic examination. His postoperative course was uneventful and he was discharged 5 months postnatally with home oxygen therapy. He was readmitted because of heart failure and died at 6 months. Case 2: a Japanese baby boy, who was prenatally diagnosed with gastroschisis, was delivered at 35 weeks’ gestation by urgent cesarean section because of the diagnosis of fetal distress. Silo construction using a wound retractor was performed on the day of his birth and direct abdominal closure was performed on the tenth day after his birth. Trisomy 21 was confirmed by genetic examination. Treatment for his respiratory distress was continued after surgery. A retrosternal hernia was revealed at 6 months and direct closure of retrosternal diaphragm with the resection of hernia sac was performed. His postoperative course was uneventful and he was discharged with home oxygen therapy. Attention should be paid to chromosomal abnormality in cases in which the coexistence of congenital diaphragmatic hernia and abdominal wall closure defect are observed.
    Preview · Article · Dec 2016 · Journal of Medical Case Reports
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    ABSTRACT: Background: The purpose of this study was to present a case of paraneoplastic systemic hypertension and fever in an undiagnosed primary ciliary body carcinoma arising in a painful blind eye. Case presentation: A 37-year-old white man with a history of blindness since childhood was enucleated for neovascular glaucoma because of intractable pain in his right eye. A histopathological examination revealed a ciliary body carcinoma. One year later, an invasive recurrence of his orbit and ethmoid was detected and a debulking procedure was performed. He had untreatable fever and multidrug-resistant systemic hypertension for 3 months before the neoplasm diagnosis. He recovered from fever and systemic hypertension only after tumor excision and relapsed 1 year later when synchronous tumor dissemination was shown through a computed tomography scan. Tumor metastases, despite surgery and chemotherapy, caused his death. Conclusions: Paraneoplastic symptoms such as fever and hypertension may be due to unrecognized ocular malignancy. This case report intends to emphasize the importance of histopathological examination of an enucleated phthisical painful blind eye.
    No preview · Article · Dec 2016 · Journal of Medical Case Reports
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    ABSTRACT: Hyperinsulinism-hyperammonemia syndrome is the second most common cause of congenital hyperinsulinism and is easily treated with diazoxide; however, the symptoms in our patient were very difficult to control with typical medical therapy. To the best of our knowledge, neither our patient’s mutation, nor a case of hyperinsulinism-hyperammonemia presenting with dysmorphic features and intrauterine growth restriction has previously been reported. Case presentation We describe a 2-year-old Hispanic girl with an unusual presentation of dysmorphic features and intrauterine growth restriction who was later found to have hyperinsulinism-hyperammonemia syndrome. Chromosomal microarray analysis revealed no copy number variants but demonstrated a high density of noncontiguous regions of homozygosity consistent with limited outbreeding. Sequencing of her GLUD1 gene revealed a previously undescribed mutation of cytosine to thymine at position 1519 resulting in an amino acid change of histidine to tyrosine at position 507. Although no functional studies were performed, function prediction tools in combination with our patient’s phenotype support the hypothesis that the mutation is deleterious. Despite treatment with a maximum dose of diazoxide (15 mg/kg/day), phenobarbital (8.5 mg/kg/day divided twice daily) and a protein-restricted diet, she has global developmental delay, and continues to have seizures and recurrent episodes of hypoglycemia. It remains unclear if her clinical presentation can be solely explained by hyperinsulinism-hyperammonemia syndrome or is the result of an undiagnosed recessive disorder related to her homozygosity. It is our hope that clinicians may learn from our patient when formulating treatment plans for refractory cases of hyperinsulinism-hyperammonemia and avoid the morbidities associated with delayed diagnosis and treatment.
    No preview · Article · Dec 2016 · Journal of Medical Case Reports

  • No preview · Article · Dec 2016 · Journal of Medical Case Reports
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    ABSTRACT: In this report, we describe a case of cerebral infarction caused by cardiac foreign body–induced infective endocarditis. We discuss the paradox of the treatment we used and highlight the need for careful examination of patients without histories and complaints of cardiac disease. Case presentation Our patient was a 48-year-old Asian woman who presented with symptoms of cerebral infarction without any characteristic features of infective endocarditis. Appropriate treatment had been delayed, which made her therapy a little bit complicated. The optimal treatment of our patient was apparently surgery. However, the appropriate timing of her operation is still argued among surgeons at our department because of her acute cerebral infarction. Patients with cardiac foreign bodies need timely surgery, especially patients who display symptoms of nervous system or cardiovascular system imbalance. In this case report, we share our experiences with treating such a patient, which may have some clinical implications in a contradictory situation. To the best of our knowledge, this report is the first of its kind and will broaden understanding of the clinical diagnosis of this type of case.
    No preview · Article · Dec 2016 · Journal of Medical Case Reports
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    ABSTRACT: Background: Symptomatic presentations of colonic lipomas are very rare in clinical practice, and may mimic colonic malignancy. The likelihood of presenting symptoms has been shown to depend on the size of the lesion. Case presentation: We describe the case of a 72-year-old Sinhalese man presenting with worsening mucoid diarrhea who was subsequently diagnosed to have a lipoma of the sigmoid colon. His disease was successfully managed with endoscopic resection. Conclusion: Confidently establishing the rare diagnosis of a colonic lipoma usually requires a combination of endoscopic, radiological, and histological evaluation, and is therefore very challenging. With the advancement of endoscopic procedures, endoscopic resection is widely practiced as the definitive management of these cases.
    Preview · Article · Dec 2016 · Journal of Medical Case Reports
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    ABSTRACT: Background: Ovarian mature cystic teratoma (MCT) is a common neoplasm in women. While malignant transformation of MCT is relatively rare, squamous cell carcinoma is the most frequent malignant neoplasm arising from MCT. Some tumor markers have been reported to be useful for prediction of MCT malignant transformation prior to operation. However, widely accepted use of these markers remains to be established. In the present study, we report the usefulness of frozen section assessment during operation, as well as preoperative measurement of tumor marker levels. Case presentation: We present two cases of squamous cell carcinoma arising from ovarian MCT. The first case was a 45-year-old Asian woman referred to our hospital after her periodical company medical checkup, due to possible ovarian tumor. Image analysis suggested a dermoid cyst, and left salpingo-oophorectomy was performed. Because the cyst was histologically diagnosed as an invasive squamous cell carcinoma arising from an MCT, our patient underwent an additional preventative operation. The TNM classification and FIGO stage were T1aNXM0 and Ia, respectively. The second case was a 53 -year-old Asian woman who visited our hospital due to complaints of abdominal pain and urinary retention. Image analysis and laboratory data showing high serum levels of SCC antigen (normal range: < 1.5 ng/mL) and CA19-9 (normal range: < 37 U/mL), which strongly suggested malignant transformation of MCT. Frozen sections obtained during the operation were histologically analyzed to confirm malignancy, and our patient underwent an additional operation. The TNM classification and FIGO stage were T1aNXM0 and Ia, respectively. Conclusions: We report the usefulness of frozen section assessment during operation, as well as preoperative measurement of tumor marker levels.
    Preview · Article · Dec 2016 · Journal of Medical Case Reports
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    ABSTRACT: Atypical uterine leiomyomas show benign behavior. However, the distinction between leiomyomas and leiomyosarcomas may at times be problematic. We report a rare case of atypical uterine leiomyoma. We try to investigate potential immunohistochemical parameters that could be essential to distinguish cases of malignant smooth muscle tumors and those of uncertain or borderline histology. Case presentation A 56-year-old white ethnic Albanian woman from Kosovo presented with uterine bleeding because of uterine multiple leiomyomas. A hysterectomy with unilateral adnexectomy was performed. Her hysterectomy specimen contained multiple leiomyomas in submucosal, intramural and subserosal locations. The leiomyomas were well demarcated, firm and white with a whorled cut surface and one had foci of hemorrhage. Histology of most of the leiomyomas showed a whorled (fascicular) pattern of smooth muscle bundles separated by well-vascularized connective tissue. Smooth muscle cells were elongated with eosinophilic or occasional fibrillar cytoplasm and distinct cell membranes. Some of them developed areas of degeneration including hyaline change, with less than five mitotic figures per ten high power fields in most mitotically active areas, and no significant atypia. One leiomyoma was characterized by moderately to severely pleomorphic atypical tumor cells with low mitotic counts and no coagulative tumor cell necrosis. Immunohistochemistry showed strong immunoreactivity for vimentin, smooth muscle actin and desmin, while cyclin-dependent kinase inhibitor 2A (p16), and B-cell lymphoma 2 (bcl-2) showed focal immunoreactivity, estrogen and progesterone were positive, Ki-67 expressed a low proliferation index, whereas p21 and tumor suppressor gene p53 were negative. The combination of evaluation of conventional morphologic criteria with cyclin-dependent kinase inhibitor 2A (p16), p21, progesterone, B-cell lymphoma 2, tumor suppressor gene p53 and Ki-67 expression may be of great value in the assessment of uterine smooth muscle tumors of uncertain or borderline histology.
    Preview · Article · Dec 2016 · Journal of Medical Case Reports
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    ABSTRACT: Background: Allergic reactions to amoxicillin are very common occurrences in the pediatric age group; however, onset of symptoms can present a diagnostic dilemma. Case presentation: We present a case series that describes three children (8-year-old white girl, 2-year-old white boy and 14-month-old Chinese boy) who presented with varied onset of allergic reactions to amoxicillin, specifically immediate (within the first hour after exposure) and non-immediate onset. One child developed immediate onset allergy to oral challenge with amoxicillin although his clinical history was evident for non-immediate onset allergy to amoxicillin. He was the only case that had a positive skin test to penicillin. Two other children presented with reactions toward the end of their treatment course of amoxicillin, yet one patient developed immediate onset allergy while the other patient developed non-immediate onset allergy after challenge. Conclusions: This case series demonstrates diagnostic challenges facing physicians assessing allergic reactions to amoxicillin. As onset of reactions can dictate severity and pathogenic type of allergy, a thorough clinical history and subsequent appropriate diagnostic testing including medication challenge can help establish the diagnosis.
    Preview · Article · Dec 2016 · Journal of Medical Case Reports
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    ABSTRACT: Paralysis of the external popliteal sciatic nerve is a frequent pathological condition that occurs after trauma. However, etiologies other than trauma, such as tumors, are also possible. The sensory collaterals of the external popliteal sciatic nerve have a small territory of innervation at the knee, and tumors involving these nerves become symptomatic after compression of the motor nerves. We here describe the first reported case of this phenomenon. Case presentation This case involved a lesion compressing the origin of the external popliteal sciatic nerve of a 13-year-old Moroccan boy diagnosed with a neurofibroma. He developed functional impairment of his left lower limb during a football game, and examination revealed a steppage gait. The initial diagnosis was stretching of the peroneal nerve. The definitive diagnosis of a neurofibroma was revealed by imaging and confirmed by surgery and pathology. Treatment involved total removal of the tumor; however, our patient’s steppage gait persisted. Our patient developed compression of the external popliteal sciatic nerve from a tumor growing on a collateral nerve. Early diagnosis is an absolute necessity in such cases. Trauma and tumors of sensory nerves can distort the diagnosis, as in this case. Ultrasound and magnetic resonance imaging can contribute to an accurate diagnosis in patients with neuropathy in the absence trauma or tomacula.
    No preview · Article · Dec 2016 · Journal of Medical Case Reports
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    ABSTRACT: After a successful trabeculectomy, a sudden intraocular pressure decrease may alter the intracranial to intraocular pressure ratio and cause decompression retinopathy. Frequent Valsalva maneuvers may also play a role in its pathogenesis. This condition may manifest as multiple retinal hemorrhages, edema of the optic disc, macular edema, or a sudden decrease in visual acuity postoperatively. Outcomes for patients are usually good, with spontaneous resolution occurring within a matter of weeks. It has been rarely reported in the literature as a bilateral condition. Case presentation We present a case of consecutive bilateral decompression retinopathy in a 54-year-old severely obese Caucasian woman (body mass index 37 kg/m 2 ) with open angle glaucoma and a poor history of medical therapeutic compliance, who chose surgical treatment based on her inability to consistently use ocular drops. Our patient underwent a trabeculectomy with mitomycin C in both eyes, with surgeries taking place 3 months apart. After the first surgery, 2 weeks postoperatively, she complained of decreased visual acuity. Examination of her right eye fundus revealed multiple retinal hemorrhages and disc edema. There was a similar pattern in her left eye, this time including maculopathy. Her visual acuity and fundoscopic changes resolved spontaneously over a period of a month in both cases. Currently, our patient has well-controlled bilateral intraocular pressure, ranging between 14 and 16 mmHg, without hypotensive medication. Decompression retinopathy is a potential complication after glaucoma surgery, but has rarely been described as a bilateral consecutive condition. A comprehensive approach could help to anticipate its occurrence and manage it.
    No preview · Article · Dec 2016 · Journal of Medical Case Reports