Melda Çağlar

Cirrhosis in children with celiac disease

Background: Liver involvement represents an extra-intestinal feature of celiac disease (CD) and shows a clinical spectrum varying from nonspecific reactive hepatitis to cirrhosis. Here we report the association of cirrhosis with CD in 5 children. Patients and Methods: The mean age of the patients was 9.4 ± 2.8 years. Viral, metabolic, and autoimmune etiology of liver disease was ruled out. Intestinal and liver biopsies were performed to confirm the histologic diagnosis in all subjects. Results: Three of the patients had chronic diarrhea and hepatosplenomegaly in whom diagnoses of CD and cirrhosis were established at presentation simultaneously. In the other 2 patients, CD was diagnosed following an initial diagnosis of cirrhosis. At diagnosis, alanine aminotransferase (range, 64-271 IU/L) and aspartate aminotransferase (range, 90-225 IU/L) values were elevated. After 1 to 5 years of a gluten-free diet (GFD), normalization of serum aminotransferase levels and clinical improvement were observed in 3 patients with strict GFD. The other 2 patients without improvement of the liver disease had poor dietary compliance. Conclusion: CD may be associated with severe hepatic damage in children and strict GFD may have beneficial effect on the course of liver disease. Serologic screening of CD should be included in differential diagnosis of chronic liver disease of unknown origin.

Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI: a report of two siblings

The evidence of severe structural brain abnormalities in association with severe mental retardation is characteristic in congenital muscular dystrophy (CMD) forms other than the classical form. However, it seems that the nosology of CMD is not complete yet, as we have clinical, immunohistochemical and genetic data suggesting that there are other unclassified forms. Here we report two CMD siblings from a consanguineous family with partial merosin-deficiency in muscle biopsies, severe mental retardation and normal MRI of the brain. The disease was not linked to the LAMA2 gene (6q22-23) or to Fukuyama congenital muscular dystrophy (FCMD) (9q31-33). To our knowledge, such an association may constitute a new entity within the broad clinical spectrum of CMD.

Nonsyndromic paucity of interlobular bile ducts: clinical and laboratory findings of 10 cases.

BACKGROUNDnReports concerning nonsyndromic paucity of the interlobular bile ducts are not common.nnnMETHODSnThe clinical, biochemical, and histological features of ten such children were described.nnnRESULTSnAll presented with jaundice, starting in the first month in seven and in the fourth, seventeenth, and thirtieth month in the others. Alcoholic stools were present intermittently in seven and persistently in three patients. Pruritus was a prominent symptom in five. Liver function tests were abnormal in all but one. Liver biopsies were performed at ages of 20 days to 3 years (median 5 months). In addition to a paucity of interlobular bile ducts, histology revealed intracellular cholestasis in all, portal fibrosis in four, and regenerative nodules in two patients. Complications of fat-soluble vitamin deficiency occurred in seven. Therapy consisted of supplementation of those vitamins and administration of cholestyramine, phenobarbital, prednisolone, or ursodeoxycholic acid. While one child had a successful orthotopic liver transplantation, three died. Consanguinity rate was 80% among the parents, and five of the patients had siblings with similar symptoms.nnnCONCLUSIONSnPrognosis of these patients is variable. Differentiation from other forms of cholestasis is important especially to avoid surgery.

Clinical and Histopathological Study of Merosin-deficient and Merosin-positive Congenital Muscular Dystrophy

ABSTRACT The clinical features of merosin-positive congenital muscular dystrophy (CMD) and merosin-deficient CMD are well known, with those of merosin-deficient CMD being more severe. Whether the severity of histopathological findings correlates with these clinical features remains unanswered. In this study, the clinical and histopathological findings of 39 merosin-deficient and 37 merosin-positive CMD patients were compared. Merosin-deficient CMD patients were found to be younger, with earlier onset of symptoms, age of diagnosis, and a more severe clinical state (reflecting maximum motor capacity and contractures). On histopathological evaluation, endomysial fibrosis, perimysial fibrosis, and histopathological state (reflecting fibrosis, adiposis, necrosis, and variation in fiber size) were more severe in merosin-deficient CMD. There was a correlation between clinical and histopathological states only in merosin-deficient CMD.

Histone mRNA in situ hybridization and Ki 67 immunohistochemistry in pediatric adrenocortical tumors

Adrenocortical tumors in the pediatric population are rare. Classification of these tumors as adenomas or carcinomas using histological criteria is often difficult. Immunohistochemical expressions of proliferative markers are currently under investigation for utilization in the differential diagnosis and prediction of clinical outcomes. The value of histone proteins as prognostic markers in adrenocortical tumors has not yet been elucidated. We evaluated the histological features, immunohistochemical staining of Ki 67, and in situ hybridization for histone mRNA in 30 pediatric adrenocortical tumors. We investigated the relationship between these parameters and the prognosis. Using the classification proposed by Weiss, 19 tumors were classified as carcinomas and 11 as adenomas. Ki 67 and histone mRNA labeling indices (LIs, the percentage of Ki 67-positive and histone mRNA-positive tumor cells, respectively) were significantly higher in carcinomas than in adenomas (Ki 67 LI was 14.62±5.79 in adenomas and 20.35±6.23 in carcinomas, p=0.02. Histone mRNA LI was 1.73±1.71 in adenomas and 6.62±2.28 in carcinomas, p=0.00). The proliferative activity assessed by histone mRNA was lower than that assessed by Ki 67 in both diagnostic groups. The cut off point for the diagnosis of malignancy was found to be 14.55 for Ki 67 LI and 5.75 for histone mRNA LI. A correlation was found between a histone mRNA LI ≥5 and poor prognosis (recurrence, metastasis, or death). We concluded that the proliferative activity of the tumor assessed by Ki 67 and histone mRNA may assist in differentiating adrenocortical adenomas and carcinomas. In addition, our results suggest that the most reliable parameter to predict prognosis in pediatric adrenocortical tumors is the histone mRNA LI.

Intramural tracheobronchial remnants associated with esophageal atresia: diagnostic aids

A patient with isolated esophageal atresia and congenital esophageal stenosis resulting from intramural tracheobronchial remnants (TBR) in the distal esophagus is presented. The esophagographic appearance and operative findings suggesting the presence of TBR are discussed.

Osteogenic sarcoma of the distal femur in a young child

Osteogenic sarcoma of the distal femur of a 2½-year-old girl is described. This case is noteworthy because of the young age of the patient.

VASCULITIS AS A CAUSE OF DIARRHEA AND GASTROINTESTINAL HEMORRHAGE: A Case Report

A 13-year-old girl was hospitalized for fever, malaise, intractable diarrhea, and intermittent gastrointestinal hemorrhage. Despite aggressive antimicrobial and supportive treatment, she died with massive bleeding from the upper gastrointestinal tract. Autopsy study revealed systemic polyarteritis nodosa of classic form in the right lung and gastrointestinal tract and of microscopic form in kidneys.

Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI

The evidence of severe structural brain abnormalities in association with severe mental retardation is characteristic in congenital muscular dystrophy (CMD) forms other than the classical form. However, it seems that the nosology of CMD is not complete yet, as we have clinical, immunohistochemical and genetic data suggesting that there are other unclassified forms. Here we report two CMD siblings from a consanguineous family with partial merosin-deficiency in muscle biopsies, severe mental retardation and normal MRI of the brain. The disease was not linked to the LAMA2 gene (6q22-23) or to Fukuyama congenital muscular dystrophy (FCMD) (9q31-33). To our knowledge, such an association may constitute a new entity within the broad clinical spectrum of CMD.

Merosin positive congenital muscular dystrophy with mental retardation and cataracts: a new entity in two families

Merosin-positive congenital muscular dystrophy is a heterogenous group of disorders with varying clinical presentations and severity. In general, central nervous system involvement is not present. There is also evidence for still unclassified forms. Here we report three cases in two families with merosin-positive congenital muscular dystrophy, mild mental retardation, bilateral cataracts and normal cranial magnetic resonance imaging. To our knowledge, such an association has not been reported previously, and thus is a new entity within congenital muscular dystrophy nosology.