Nephrogenic diabetes insipidus and Werdnig-Hoffmann disease in a child: an unusual association.
نویسندگان
چکیده
The unusual association of Werdnig-Hoffmann disease and nephrogenic diabetes insipidus in a 5-month-old child is described for the first time. The association is casual, considering the different pathways of genetical transmission in these two diseases. The possibility of identifying the heterozygote is discussed and it appears to be limited to nephrogenic diabetes insipidus.
منابع مشابه
Nephrogenic diabetes insipidus with intracranial calcification in a child with thalassemia minor.
INTRODUCTION There are numerous causes for intracranial calcification in children. We describe an unusual cause of intracranial calcification in a child, namely, nephrogenic diabetes insipidus (NDI). CASE REPORT A 12-year-old boy presented with seizures and developmental delay. MRI of the brain revealed intracranial calcification. Evaluation showed findings suggestive of NDI. The lack of evid...
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عنوان ژورنال:
- Journal of medical genetics
دوره 15 3 شماره
صفحات -
تاریخ انتشار 1978