Abstract |
We present four cases with nephrotic syndrome, microcephaly and severe developmental delay. In the differential diagnosis the Galloway-Mowat syndrome, PEHO syndrome, ARC syndrome and the carbohydrate-deficient glycoprotein (CDG) syndrome are considered and discussed. One case may fall into the Galloway-Mowat spectrum and another case was diagnosed with the CDG syndrome. This case is the third report of a nephrotic syndrome as a part of the CDG syndrome. Two remaining cases with cerebellar and brain stem atrophy, and without major histopathological changes in the kidney were left without a definite unifying diagnosis and may well represent a different unknown condition. Although microcephaly and nephrotic syndrome with or without hiatus hernia has been equated with Galloway-Mowat syndrome in the literature, the brain and renal pathology in these reported cases has been very variable. It is likely that this group as a whole is aetiologically heterogeneous.
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Authors | B B de Vries, W G van'tHoff, R A Surtees, R M Winter |
Journal | Clinical dysmorphology
(Clin Dysmorphol)
Vol. 10
Issue 2
Pg. 115-21
(Apr 2001)
ISSN: 0962-8827 [Print] England |
PMID | 11310991
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Topics |
- Congenital Disorders of Glycosylation
(diagnosis)
- Developmental Disabilities
(diagnosis)
- Fatal Outcome
- Female
- Humans
- Infant
- Microcephaly
(diagnosis)
- Nephrotic Syndrome
(diagnosis)
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