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Hydrocephalus, lissencephaly, ocular abnormalities and congenital muscular dystrophy. A Warburg syndrome variant?
Neuropediatrics. 1986 Nov; 17(4):206-11.N

Abstract

The authors report a family in whom three members suffered from congenital hydrocephalus and ocular abnormalities. One of these patients showed along with these symptoms congenital muscular dystrophy. In this child, autopsy disclosed severe cerebral malformations consisting of lissencephaly, arhinencephaly, stenosis of aqueduct, Dandy-Walker cyst and cerebellar micropolygyria. The mode of transmission, the eyes abnormalities and the neuropathological findings of this family resemble the clinical and pathological aspects of Warburg syndrome. However, the presence of congenital muscle dystrophy in one of these children suggests some links with Fukuyama's congenital muscular dystrophy and/or with so-called brain-eye-muscle disease of Santavuori. These three syndromes are shortly discussed. The present case and few others reported in the literature obviously represent a severe and lethal form of a congenital disease involving brain, muscle and eyes.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

3100980

Citation

Pavone, L, et al. "Hydrocephalus, Lissencephaly, Ocular Abnormalities and Congenital Muscular Dystrophy. a Warburg Syndrome Variant?" Neuropediatrics, vol. 17, no. 4, 1986, pp. 206-11.
Pavone L, Gullotta F, Grasso S, et al. Hydrocephalus, lissencephaly, ocular abnormalities and congenital muscular dystrophy. A Warburg syndrome variant? Neuropediatrics. 1986;17(4):206-11.
Pavone, L., Gullotta, F., Grasso, S., & Vannucchi, C. (1986). Hydrocephalus, lissencephaly, ocular abnormalities and congenital muscular dystrophy. A Warburg syndrome variant? Neuropediatrics, 17(4), 206-11.
Pavone L, et al. Hydrocephalus, Lissencephaly, Ocular Abnormalities and Congenital Muscular Dystrophy. a Warburg Syndrome Variant. Neuropediatrics. 1986;17(4):206-11. PubMed PMID: 3100980.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Hydrocephalus, lissencephaly, ocular abnormalities and congenital muscular dystrophy. A Warburg syndrome variant? AU - Pavone,L, AU - Gullotta,F, AU - Grasso,S, AU - Vannucchi,C, PY - 1986/11/1/pubmed PY - 1986/11/1/medline PY - 1986/11/1/entrez SP - 206 EP - 11 JF - Neuropediatrics JO - Neuropediatrics VL - 17 IS - 4 N2 - The authors report a family in whom three members suffered from congenital hydrocephalus and ocular abnormalities. One of these patients showed along with these symptoms congenital muscular dystrophy. In this child, autopsy disclosed severe cerebral malformations consisting of lissencephaly, arhinencephaly, stenosis of aqueduct, Dandy-Walker cyst and cerebellar micropolygyria. The mode of transmission, the eyes abnormalities and the neuropathological findings of this family resemble the clinical and pathological aspects of Warburg syndrome. However, the presence of congenital muscle dystrophy in one of these children suggests some links with Fukuyama's congenital muscular dystrophy and/or with so-called brain-eye-muscle disease of Santavuori. These three syndromes are shortly discussed. The present case and few others reported in the literature obviously represent a severe and lethal form of a congenital disease involving brain, muscle and eyes. SN - 0174-304X UR - https://www.unboundmedicine.com/medline/citation/3100980/Hydrocephalus_lissencephaly_ocular_abnormalities_and_congenital_muscular_dystrophy__A_Warburg_syndrome_variant L2 - https://www.thieme-connect.com/DOI/DOI?10.1055/s-2008-1052531 DB - PRIME DP - Unbound Medicine ER -