Resumo

AVINA-FIERRO, Jorge Arturo  e  HERNANDEZ-AVINA, Daniel Alejandro. Neuhauser syndrome: megalocornea, mental retardation and hypotonia. Bol. Med. Hosp. Infant. Mex. [online]. 2008, vol.65, n.2, pp.135-137. ISSN 1665-1146.

Introduction. Neuhauser syndrome is an extremely rare genetic recessive disorder characterized by megalocornea, mental and motor retardation and hypotonia. Nowadays, this syndrome has been clinically delineated but its genetic mechanism remains unknown, and there is no specific diagnostic test. Case report. An 18-month old female infant with characteristic facial dysmorphic traits; congenital glaucoma, megalocornea in both eyes and hypotonia; seizures, mental and motor retardation. Dysmorphologic evaluation allowed the clinical diagnosis. Conclusion. There are only 36 cases reported in the literature. This case is the first published in Latin America, and may be helpful in the clinical assessment of patients with megalocornea, mental and motor retardation and hypotonia.

Palavras-chave : Neuhauser syndrome; megalocornea; mental retardation.