Intractable & Rare Diseases Research
Case Reports
Gomez-Lopez-Hernández syndrome: First reported case from the Indian subcon-tinent
Anita ChoudharyPriyanka MinochaSadasivan Sitaraman
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Volume 6 (2017) Issue 1 Pages 58-60

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Abstract

Gomez-Lopez-Hernández syndrome (GLHS) is a rare neurocutaneous syndrome char- acterized by a triad of findings: partial alopecia of the scalp, trigeminal anaesthesia, and rhombencephalosynapsis. GLHS is also known as cerebello-trigeminal- dermal dysplasia. Besides this triad, a number of varying traits have been described in 35 previously reported cases. Reported here is a case of a four-year-old boy, born out of consanguine-ous marriage, presenting with the classic triad of findings, i.e. partial alopecia of the scalp, trigeminal anaesthesia, and rhombencephalosynapsis. To the extent known, this is the first case of GLHS reported from India. If a child presents with alopecia and rhom-bencephalosynapsis, GLHS should be considered in the differential diagnosis. A host of studies can be used to determine the exact pathogenesis, and confirming the diagnosis of GLHS is an important step in prenatal testing for at-risk pregnancies.

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© 2017 International Research and Cooperation Association for Bio & Socio-Sciences Advancement
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