Cervico-ocula-acusticus syndrome of Wildervanck. Case report.
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Biomedical subjects
Publications and source records attributed to K Yalaz.
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A-four-year-old girl with primary nonfamilial congenital lymphedema was evaluated by lymphoscintigraphy using 99mTc-Dextran. It was demonstrated that there was no accumulation of radioactivity in the left inguinal and femoral lymph nodes and faint accumulation in the contralateral lymph node. It was concluded that lymphoscintigraphy is a safe, reliable, noninvasive technique which is helpful in the evaluation of a patient with lymphedema, especially small children in whom conventional contrast lymphangiography offers some challenges.
The clinical and pathological findings of a ten-year-old girl, diagnosed as having acute hemorrhagic leukoencephalitis at postmortem examination, are presented. The diagnosis of this disease is usually established at autopsy. In this paper, emphasis is given to the diagnosis of acute hemorrhagic leukoencephalitis, and the possibility of its clinical recognition is discussed.
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A case of fatal agranulocytosis in an adolescent who was on carbamazepine therapy is presented. The clinical and laboratory findings suggest that the primary cause of the disorder was neutropenia rather than infection, and the preceding factor for neutropenia was carbamazepine. The timing of occurrence of the hematologic picture, its dependency on dose increments, and the lack of symptoms until infection supervened are consistent with an idiosyncratic-toxic drug reaction (type 2 drug reaction). This is the first reported agranulocytosis case due to crabamazepine in adolescence.
Cytogenetic analysis was performed on a four-year-old girl with obesity, mental retardation, recurrent febrile convulsions and a provisional diagnosis of Prader Willi syndrome. High-resolution banding was done to observe the subchromosomal deletion. An interstitial deletion (q11-->q13) on one of the 15th chromosomes was observed in all metaphases.