| Diagnostic dilemmas in four infants with nephrotic syndrome, microcephaly and severe developmental delay. | |
| | |
MedLine Citation:
|
PMID: 11310991 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
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. |
| | |
Authors:
|
B B de Vries; W G van'tHoff; R A Surtees; R M Winter |
Publication Detail:
|
Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
|
Title: Clinical dysmorphology Volume: 10 ISSN: 0962-8827 ISO Abbreviation: Clin. Dysmorphol. Publication Date: 2001 Apr |
Date Detail:
|
Created Date: 2001-04-19 Completed Date: 2001-08-23 Revised Date: 2006-11-15 |
Medline Journal Info:
|
Nlm Unique ID: 9207893 Medline TA: Clin Dysmorphol Country: England |
Other Details:
|
Languages: eng Pagination: 115-21 Citation Subset: IM |
Affiliation:
|
Department of Clinical Genetics, Institute of Child Health, London, UK. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Carbohydrate-Deficient Glycoprotein Syndrome
/
diagnosis Developmental Disabilities / diagnosis* Fatal Outcome Female Humans Infant Microcephaly / diagnosis* Nephrotic Syndrome / diagnosis* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Two brothers with severe developmental delay, growth retardation and unusual appearance.
Next Document: A new familial syndrome with facial abnormalities, abnormal EEG, and mental retardation.