Diagnostic dilemmas in four infants with nephrotic syndrome, microcephaly and severe developmental delay.
Clin Dysmorphol
; 10(2): 115-21, 2001 Apr.
Article
in En
| MEDLINE
| ID: mdl-11310991
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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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Developmental Disabilities
/
Microcephaly
/
Nephrotic Syndrome
Type of study:
Diagnostic_studies
Limits:
Female
/
Humans
/
Infant
Language:
En
Journal:
Clin Dysmorphol
Journal subject:
TERATOLOGIA
Year:
2001
Document type:
Article
Affiliation country:
Reino Unido