Congenital Cataracts, Renal Tubular Necrosis and Encephalopathy in Two Sisters.

نویسندگان

  • L CROME
  • S DUCKETT
  • A W FRANKLIN
چکیده

We present here an account of two infant sisters suffering from a congenital and, probably, inherited disease, the chief features of which were epilepsy, cataracts, renal tubular necrosis and an encephalopathy comprising micrencephaly, lack of myelination and cerebellar dysplasia. The condition resembles the so-called Marinesco-Sjogren syndrome and also the oculo-cerebro-renal (Lowe's) syndrome, although it may be quite distinct from each of these.

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عنوان ژورنال:
  • Archives of disease in childhood

دوره 38  شماره 

صفحات  -

تاریخ انتشار 1963