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Ambiguous Genitalia Associated with an Extremely Rare Syndrome: A Case Report of XLAG Syndrome and Review of the Literature

Authors :
Brijnandan GUPTA
Prashant RAMTEKE
V K PAUL
Tarun KUMAR
Prasenjit DAS
Source :
Türk Patoloji Dergisi, Vol 35, Iss 2, Pp 162-165 (2019)
Publication Year :
2019
Publisher :
Federation of Turkish Pathology Societies, 2019.

Abstract

X-linked lissencephaly, absent corpus callosum, and epilepsy of neonatal onset with ambiguous genitalia comprises the XLAG syndrome and only 15 cases have been reported in literature. Due to its rarity, the exact clinical course and outcome are not known. Exact associations of this disease are also elusive. Hereby we are reporting this extremely rare entity and we searched the English literature extensively to get consolidated knowledge regarding this entity that would help the readers. Pre-natal radiological work-up can detect these malformations, which should be followed by medical termination, counseling and karyotyping. Till date the longest survival noted was 4 years only.

Details

Language :
English
ISSN :
10185615 and 13095730
Volume :
35
Issue :
2
Database :
Directory of Open Access Journals
Journal :
Türk Patoloji Dergisi
Publication Type :
Academic Journal
Accession number :
edsdoj.ffe4c9d031a4d8f8b9c5fce2decb737
Document Type :
article
Full Text :
https://doi.org/10.5146/tjpath.2017.01391