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ABSTRACT: Macrodystrophia lipomatosa characterized by enlargement of one or more fingers or toes with predominantly fibroadipose tissue can be part of an overgrowth syndrome such as Proteus syndrome (Biesecker, 2006) or CLOVES syndrome (Sapp et al., 2007; Alomari, 2009) or found as an isolated abnormality in an otherwise normal patient. It maybe present at birth or occur in early infancy with a progressive course. Here, we report a case of macrodystrophia lipomatosa (MDL) diagnosed in the neonatal period in a baby who had no other apparent problems on follow-up.
Clinical dysmorphology 09/2011; 21(1):53-5. · 0.47 Impact Factor
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ABSTRACT: The aim of the study was to assess the audiological findings of a 4-year-old child with a homozygous COL11A2 mutation and to point out the role of continuous follow-ups in children with craniofacial syndromes after the newborn hearing screening. A 4-year-old boy with otospondylomegaepiphyseal dysplasia (OSMED) was followed up after birth for hearing loss. Transient Otoacoustic Emissions (TEOAEs), Distortion Product Otoacoustic Emissions (DPOAEs), Automated and Clinical Auditory Brainstem Response (AABR and ABR) measurements, Visual Reinforcement Audiometry, immitansmetric measurements and hearing threshold measurements were performed for audiological evaluation. The patient developed sensorineural hearing loss at 11 months of age while his hearing was normal at birth. Because of auditory-verbal training with hearing aids started at 20 months of age, he now has normal verbal communication with his peers. This study clearly demonstrates that hearing loss develops in infancy in patients with OSMED and underscores the importance of continued hearing screening beyond newborn period for early intervention of hearing impairment and communication problems.
International journal of pediatric otorhinolaryngology 03/2011; 75(3):433-7. · 0.85 Impact Factor
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ABSTRACT: We report the case of a child with clinical and radiological signs of nutcracker syndrome who had a history of inferior vena cava ligation during a previous surgery. He was referred for evaluation of abdominal pain and hematuria. Entrapment of the left renal vein between the superior mesenteric artery and the aorta with aneurysmal dilatation was detected on Doppler ultrasonography. Magnetic resonance angiography revealed paravertebral and epidural collateral vessels.
Journal of Clinical Ultrasound 03/2011; 39(7):418-21. · 0.81 Impact Factor
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ABSTRACT: Intracranial cysts (ICC) may cause a wide spectrum of endocrinological disorders. We evaluated 27 patients who were diagnosed with ICC during investigation for neuroendocrine dysfunctions and reviewed the relevant literature. The types of ICC in the patients were arachnoid cysts (n = 13); Rathke cleft cysts (n = 7); pineal cysts (n = 5); an ependymal cyst (n = 1) and a cavum septum pellucidum cyst (n = 1). The neuroendocrine dysfunctions of the patients were obesity (n = 7), isolated growth hormone deficiency (n = 6), central precocious puberty (n = 6), multiple pituitary hormone deficiency (n = 3), central diabetes insipidus (n = 1), growth hormone deficiency and central precocious puberty (n = 1), obesity and galactorrhea (n = 1), obesity and hypogonadotropic hypogonadism (n = 1) and growth hormone neurosecretory dysfunction (n = 1). Only three patients, who had arachnoid cysts, showed neurologic symptomatology. Although three patients underwent surgery, no improvements in endocrinological dysfunctions were observed. ICC should be considered when evaluating patients with endocrinological problems and patients with coincidental ICC should be recommended for follow-up.
Journal of pediatric endocrinology & metabolism: JPEM 01/2011; 24(11-12):867-75. · 0.88 Impact Factor
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ABSTRACT: The reason of high mortality in patients with chronic kidney disease (CKD) is cardiovascular disease and arterial calcification has been accepted as an additive factor on this status. In this report we described vascular and cardiac valvular calcifications in an adolescent on CAPD.
International journal of nephrology. 01/2011; 2011:702406.
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ABSTRACT: An absent ductus venosus is a rare anomaly which results aberrant umbilical venous return. The fetus which is defined here referred to our clinic at 30th gestational week because of cardiomegaly. The diagnosis of ductus venosus agenesis and anomalous umbilical venous return was done by fetal echocardiography. The fetus has two unique features. The drainage of anomalous umbilical vein into the superior vena cava and associated persistent truncus arteriosus have not been reported yet in fetuses with absent ductus venosus.
Cardiology in the Young 06/2010; 20(3):345-8. · 0.76 Impact Factor
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ABSTRACT: We present a 4-year-old girl with congenital profound sensorineural deafness associated with inner ear malformation (incomplete partition type II, enlarged vestibule, and enlarged vestibular aqueduct). The proposita also had pseudocleft lips, skin defects, auricle abnormalities, and unilateral multicystic dysplastic kidney, leading to the diagnosis of branchio-oculo-facial (BOF) syndrome. Mutation analysis of the TFAP2A gene showed a de novo deletion of 18 and insertion of 6 nucleotides, resulting in deletion of amino acids LPGARR and insertion of RI between amino acids 276 and 281. Altered amino acids are located within the basic DNA binding and dimerization domains of TFAP2A. Previously reported amino acid substitutions in TFAP2A involved only DNA binding domain in four patients with BOF syndrome who were not reported to have profound sensorineural deafness. Our report implies that the localization of mutations in TFAP2A might be responsible with the phenotypic findings in BOF syndrome.
American Journal of Medical Genetics Part A 03/2009; 149A(3):427-30. · 2.39 Impact Factor
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Asli Sirmaci,
Duygu Duman,
Hatice Oztürkmen-Akay,
Seyra Erbek,
Armağan Incesulu,
Burcu Oztürk-Hişmi,
Z Serap Arici,
E Berrin Yüksel-Konuk,
Seda Taşir-Yilmaz,
Suna Tokgöz-Yilmaz,
Filiz Başak Cengiz,
Idil Aslan,
Müzeyyen Yildirim,
Aylin Hasanefendioğlu-Bayrak,
Abdullah Ayçiçek,
Ismail Yilmaz, Suat Fitoz,
Fazilet Altin,
Hilal Ozdağ,
Mustafa Tekin
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ABSTRACT: Genome wide homozygosity mapping using Affymetrix 10K arrays revealed the DFNB7/11 locus including the TMC1 gene in 5 of 35 Turkish families with autosomal recessive nonsyndromic severe to profound congenital or prelingual-onset sensorineural hearing loss (SNHL). Additional 51 families were later screened for co-segregation of the locus with the phenotype using microsatellite markers. GJB2 and mtDNA A1555G mutations were negative in probands from each family. Mutation analysis was performed in families showing co-segregation of autosomal recessive SNHL with haplotypes at the DFNB7/11 locus. A total of six different mutations in seven families were identified, including novel missense alterations, p.G444R (c.1330G>A), p.R445C (c.1333C>T), and p.I677T (c.2030T>C), one novel splice site mutation IVS6+2 T>A (c.64+2T>A), and a novel large deletion of approximately 31kb at the 3' region of the gene including exons 19-24, as well as a previously reported nonsense mutation, p.R34X (c.100C>T). All identified mutations co-segregated with autosomal recessive SNHL in all families and were not found in Turkish hearing controls. These results expand the mutation spectrum of TMC1 with five novel mutations and provide data for the significant contribution of TMC1 mutations in hearing loss.
International journal of pediatric otorhinolaryngology 01/2009; 73(5):699-705. · 0.85 Impact Factor
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ABSTRACT: Retained fecalith after appendectomy is an uncommon complication and is mostly presented as an intra-abdominal abscess. Development of an extra-abdominal abscess due to retained fecalith is extremely rare. There are only a few cases reported in adults. In this paper, we present a case complicated by a gluteal abscess with intra-abdominal extension due to an unusual journey of a retained fecalith after an appendectomy. As far as we know, this is the first case of a gluteal abscess due to a retained fecalith in children.
Journal of Laparoendoscopic & Advanced Surgical Techniques 12/2008; 19 Suppl 1:S165-6. · 1.40 Impact Factor
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ABSTRACT: A 14 year-old patient was admitted because of a history of polyuria and polydipsia. A diagnosis of central diabetes insipidus (CDI) accompanied by growth hormone (GH) and gonadotropin deficiency was made. Hypophyseal magnetic resonance imaging (MRI) of the patient demonstrated isolated pituitary stalk enlargement. Although GH deficiency and gonadotropin deficiency were transient, CDI was persistent despite the regression of the pituitary stalk enlargement over the 4 years of follow-up.
Journal of Clinical Research in Pediatric Endocrinology 09/2008; 1(1):38-42.
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ABSTRACT: Purine nucleoside phosphorylase deficiency is a rare immunodeficiency syndrome characterized by recurrent infections, neurological dysfunction, and autoimmunity. Early diagnosis and hematopoietic stem cell transplantation may reverse the dismal prognosis in PNP deficiency. This report presents a new PNP deficiency case successfully transplanted without a conditioning regimen from an HLA-identical family donor, who developed a complication of disseminated BCG infection.
Pediatric Transplantation 07/2008; 12(4):479-82. · 1.48 Impact Factor
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Nilgun Cakar,
Fatos Yalcinkaya,
Ali Duzova,
Salim Caliskan,
Aydan Sirin,
Ayse Oner,
Esra Baskin,
Kenan Bek,
Alper Soylu, Suat Fitoz,
Aysun Karabay Bayazit,
Zelal Bircan,
Seza Ozen,
Nermin Uncu,
Mesiha Ekim
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ABSTRACT: To retrospectively evaluate the clinical features, angiographic findings, and outcomes of children with Takayasu arteritis (TA) in Turkey.
Clinical, laboratory, and angiographic findings and outcomes of 19 children with TA were evaluated with a retrospective chart review. The criteria for inclusion were those proposed by the American College of Rheumatology.
Mean followup period was 35.89 +/- 40.75 months (range 1-168, median 30). There were 14 girls and 5 boys. The mean age at diagnosis was 12.84 +/- 2.69 years (range 8-17, median 13). The most common complaints on admission were headache (84%), abdominal pain (37%), claudication of extremities (32%), fever (26%), and weight loss (10%). One patient presented with visual loss. Examination on admission revealed hypertension (89%), absent pulses (58%), and bruits (42%). Angiography revealed type I in 13 patients (aortic arch, descending thoracic, and abdominal aorta), type II in 4 (descending thoracic aorta and abdominal aorta), and type IV in 2 (diffuse aortic and pulmonary artery). The most commonly involved vessels were the renal, subclavian, and carotid arteries. All patients received corticosteroid therapy, and further immunosuppressive therapy was added in 15 patients. Fourteen of the 17 hypertensive patients had renal artery stenosis and 9 underwent surgery or interventional therapy. Thoraco-abdominal bypass graft was performed in 2 patients who had abdominal aortic stenosis.
Hypertension is the most common clinical feature at presentation. Corticosteroid and immunosuppressive therapy was effective in the control of disease activity. Angioplasty or bypass grafting was successfully performed when needed.
The Journal of Rheumatology 06/2008; 35(5):913-9. · 3.69 Impact Factor
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ABSTRACT: Left renal vein hypertension has been described in the literature as a cause of persistent hematuria. We report a case of nutcracker syndrome with hematuria involving the left inferior vena cava diagnosed with Doppler sonography and MRI.
Journal of Clinical Ultrasound 03/2008; 36(2):101-4. · 0.81 Impact Factor
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ABSTRACT: Pulmonary venous abnormalities are generally diagnosed by echocardiography and often confirmed by cardiac catheterization. Although angiography has been the gold standard for evaluation it carries certain inherent risks, especially in small and sick infants. In this study we retrospectively assessed the utility of magnetic resonance angiography (MRA) and computed tomography angiography (CTA) in the evaluation of pulmonary venous abnormalities in pediatric patients. The results were compared with operative findings. We reviewed nine patients with total APVC and four with partial APVC. Twelve patients were infant (age range: 1 day to 8 months) and the other was 16 years old. MRA and/or CTA clearly visualized the anomalous drainage of pulmonary veins in all patients. Cardiac catheterization was performed five patients with one total anomalous pulmonary venous connection and four with partial anomalous pulmonary venous connection. Ten patients were operated on. Diagnoses of patients were confirmed by operative findings. In Conclusions, MR and CT angiography allow detailed and comprehensive evaluation of the APVC and are good diagnostic modalities for use in the preoperative assessment of the anomaly in pediatric patients.
The International Journal of Cardiovascular Imaging 03/2008; 24(2):229-35. · 2.29 Impact Factor
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ABSTRACT: Priapism is a rare entity with a different aetiology in newborns than in childhood and adult life. Due to its rarity, management can be challenging. The possible consequences of improper treatment make management of this condition clinically relevant. Preservation of normal erection is the major goal. Although the majority of cases are idiopathic, prolonged erection may be associated with polycythemia. As spontaneous detumescence occurs in the majority of cases, conservative non-surgical treatment is advocated initially. We report the case of a newborn presenting with priapism on the 1st day of life. Detumescence was achieved on the 4th day of life with conservative management.
Journal of pediatric urology 01/2008; 3(6):509-11. · 1.38 Impact Factor
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ABSTRACT: To plan an effective management of thoracic vascular malformations, clinicians must have a clear understanding of the anatomy. Although echocardiography and angiography are the leading imaging modalities in patients with congenital cardiovascular anomalies, magnetic resonance (MR) imaging and computed tomography (CT) are valuable noninvasive adjuncts. MR imaging and CT are effective in demonstrating the complex extracardiac morphology and yield helpful information that can change the treatment plan. Although recent reports state the usefulness of multidetector CT (MDCT), in terms of pediatric population, the significance of radiation exposure should be taken into account. Thus, contrast enhanced MR angiography, as a guide in planning surgery, seems to be the best alternative to conventional angiography in the diagnosis of congenital vascular malformations. In this review, the diagnostic features of thoracic vascular malformations in pediatric population are discussed, and, the potential uses of contrast-enhanced MR angiography are emphasized with the retrospective evaluation of imaging findings in 114 examinations.
International journal of cardiology 12/2007; 123(1):3-11. · 7.08 Impact Factor
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ABSTRACT: OBJECTIVE: The purpose of this study was to establish the role of MR cholangiopancreatography (MRCP) in the diagnosis of biliary rupture in hepatic hydatid disease. We sought to determine whether the morphologic features of cysts and bile duct abnormalities detected on MRCP are specific enough for identification of intrabiliary rupture. CONCLUSION: If one of the following MRCP findings of apparent connection between hydatid cyst and biliary system, deformation of cyst, focal defect in cyst wall, or beaklike projection extending from cyst wall was present in a patient with hepatic hydatid cyst, the sensitivity of MRCP was 91.7% and the specificity was 82.8% for identification of intrabiliary rupture.
American Journal of Roentgenology 09/2007; 189(2):W84-9. · 2.78 Impact Factor
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ABSTRACT: Orbital wall infarction and subperiosteal haematomas are unusual manifestations of sickling disorders. Here we report an 11-year-old girl with sickle cell anaemia having multiple skull infarctions including the orbital bony structures associated with subperiosteal haematomas. The diagnosis was made by MRI, which showed bone marrow changes and associated haemorrhagic collections. The patient was successfully managed without surgical intervention.
Pediatric Radiology 05/2007; 37(4):388-90. · 1.67 Impact Factor
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ABSTRACT: The purpose of this study was to evaluate the pathophysiologic characteristics of nutcracker syndrome (NS) and to assess the role of upright position imaging and superior mesenteric artery (SMA) angle measurement in the diagnosis.
Doppler sonographic findings in 23 children with NS and in 26 healthy control subjects were compared. The mesenteric angle, peak velocity (PV), and anteroposterior diameter of the left renal vein (LRV) at the hilar and aortomesenteric portions were measured in both the supine and upright positions. The means +/- SD of the SMA angle, anteroposterior diameter, and PV ratio between the two portions were calculated, and cutoff levels for the diagnosis of NS were established.
The diameter and PV ratios were significantly different between the patient and control groups in both the supine and upright positions (P < .001). Differences between the supine and upright positions were also significant for the diameter of the LRV at the aortomesenteric portion, diameter ratio, and SMA angle in both groups. Upright position imaging revealed comparatively narrower SMA angles and more pronounced entrapment findings in patients with NS. The SMA angle measurement had sensitivity and specificity of 69.6% and 61.5%, respectively, in the supine position and 87.0% and 76.9% in the upright position when the cutoff values were set to less than 41 degrees and 21 degrees , respectively.
The upright position has significant effects on the LRV hemodynamics and angle of the SMA in both patients and healthy subjects. Superior mesenteric artery angle measurement may be a useful adjunct parameter in the diagnosis of NS.
Journal of ultrasound in medicine: official journal of the American Institute of Ultrasound in Medicine 05/2007; 26(5):573-80. · 1.25 Impact Factor
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ABSTRACT: We present a family in which three siblings were born with neonatal Marfan syndrome (MFS) to unaffected parents. The clinical findings included joint contractures, large ears, loose skin, ectopia lentis, muscular hypoplasia, aortic root dilatation, mitral and tricuspid valve insufficiency, and pulmonary emphysema. All three siblings died due to cardiorespiratory insufficiency by 2-4 months of age. Screening of the FBN1 gene showed the heterozygous c.3257G > A (p.Cys1086Tyr) mutation in the proband. Mosaicism of the mutation was demonstrated in the somatic cells and in the germ line of the father. Although three examples of parental mosaicism for classical MFS were demonstrated previously, this is the first report of familial occurrence of neonatal MFS due to a heterozygous mutation in FBN1. In conclusion, the p.Cys1086Tyr mutation in FBN1 is consistently associated with neonatal MFS. Parental mosaicism should always be kept in mind when counseling families with MFS.
American Journal of Medical Genetics Part A 05/2007; 143A(8):875-80. · 2.39 Impact Factor
