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Titolo:
Diagnostic dilemmas in four infants with nephrotic syndrome, microcephaly and severe developmental delay
Autore:
de Vries, BBA; vant Hoff, WG; Surtees, RAH; Winter, RM;
Indirizzi:
Inst Child Hlth, Mothercare Unit Clin Genet & Fetal Med, Dept Clin Genet, London WC1N 1EH, England Inst Child Hlth London England WC1N 1EH Genet, London WC1N 1EH, England Univ Hosp Dijkzigt, Dept Clin Genet, NL-3015 GD Rotterdam, Netherlands Univ Hosp Dijkzigt Rotterdam Netherlands NL-3015 GD tterdam, Netherlands Erasmus Univ, Rotterdam, Netherlands Erasmus Univ Rotterdam NetherlandsErasmus Univ, Rotterdam, Netherlands Great Ormond St Hosp Children, Dept Nephrol, London WC1N 3JH, England Great Ormond St Hosp Children London England WC1N 3JH WC1N 3JH, England Inst Child Hlth, Neurosci Unit, London, England Inst Child Hlth London England ild Hlth, Neurosci Unit, London, England
Titolo Testata:
CLINICAL DYSMORPHOLOGY
fascicolo: 2, volume: 10, anno: 2001,
pagine: 115 - 121
SICI:
0962-8827(200104)10:2<115:DDIFIW>2.0.ZU;2-H
Fonte:
ISI
Lingua:
ENG
Soggetto:
GALLOWAY-MOWAT SYNDROME; DEFICIENT GLYCOPROTEIN SYNDROME; ATROPHY PEHO-SYNDROME; ARTHROGRYPOSIS-MULTIPLEX-CONGENITA; RENAL TUBULAR INSUFFICIENCY; ABNORMAL GYRAL PATTERNS; PROGRESSIVE ENCEPHALOPATHY; DYSFUNCTION; CHOLESTASIS; FAMILY;
Keywords:
microcephaly; nephrotic syndrome; developmental delay; Galloway-Mowat syndrome; PEHO syndrome; ARC syndrome; CDG syndrome;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
44
Recensione:
Indirizzi per estratti:
Indirizzo: Winter, RM Inst Child Hlth, Mothercare Unit Clin Genet & Fetal Med, Dept Clin Genet, 30 Guilford St, London WC1N 1EH, England Inst Child Hlth 30 Guilford St London England WC1N 1EH England
Citazione:
B.B.A. de Vries et al., "Diagnostic dilemmas in four infants with nephrotic syndrome, microcephaly and severe developmental delay", CLIN DYSMOR, 10(2), 2001, pp. 115-121

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.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 31/10/20 alle ore 00:37:10