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Nineteen children with hemophagocytic lymphohistiocytosis (HLH) were studied in the Department of Pediatric Hematology, Hacettepe University. Patients were divided into two groups. Group 1: Thirteen patients were classified as having a genetic etiology (7 familial, 6 presumed familial) on the basis of an affected sibling and consanguinity. There was a(More)
From 1972 to 2000, 123 patients with solid tumors whose complaints had started in the first 28 days of life were retrospectively evaluated. Fifty-five patients were diagnosed in the first 28 days and 68 patients were diagnosed after 28 days. In the former group, 85.5% of patients had symptoms in the first day of life. In the latter group, 77.9% had the(More)
Testicular nodules or tumors have been well described in patients with congenital adrenal hyperplasia (CAH) and usually associated with 21-hydroxylase deficiency. The authors report on a 11-hydroxylase--deficient patient presenting bilateral testicular enlargement and review the literature. Testicular biopsy was not very helpful to make differential(More)
Congenital muscular dystrophy (CMD) is a heterogeneous group of disorders which is associated with more or less degrees of cerebral involvement. There are four separate entities within CMD nosology. Among these Fukuyama's CMD (FCMD) is highly prevalent in Japan, whereas the classic form with normal or subnormal intelligence, also known as the occidental(More)
An unusual case of non-Hodgkin's lymphoma with primary renal involvement in a four-year-old boy is presented. The diagnosis was established by renal biopsy. The findings of an exploratory laparotomy and an extensive staging procedure showed no other primary site. The patient has been followed up for 14 months and no evidence of recurrence has been observed.
Chest wall hamartoma is a very rare mass lesion of the chest wall that is manifest at birth or in early infancy with deformity of the thoracic wall and/or varying grades of respiratory distress. The authors report on an 11-month-old infant presenting with chest wall hamartoma who was treated by en bloc excision of the lesion including the involved ribs.(More)
We report a case of congenital muscular dystrophy with secondary merosin deficiency, structural involvement of the central nervous system and mental retardation in an 8-year-old girl from a consanguineous family. She had early-onset hypotonia, generalized muscle wasting, with weakness especially of the neck muscles, joint contractures, mental retardation(More)