1. Gómez-López-Hernández syndrome in a Japanese patient: a case report.
- Author
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Kobayashi Y, Kawashima H, Magara S, Akasaka N, and Tohyama J
- Subjects
- Abnormalities, Multiple pathology, Abnormalities, Multiple physiopathology, Alopecia pathology, Alopecia physiopathology, Cerebellum pathology, Cerebellum physiopathology, Child, Preschool, Craniofacial Abnormalities pathology, Craniofacial Abnormalities physiopathology, Female, Growth Disorders pathology, Growth Disorders physiopathology, Humans, Japan, Magnetic Resonance Imaging, Neurocutaneous Syndromes pathology, Neurocutaneous Syndromes physiopathology, Rhombencephalon pathology, Rhombencephalon physiopathology, Abnormalities, Multiple diagnosis, Alopecia diagnosis, Cerebellum abnormalities, Craniofacial Abnormalities diagnosis, Growth Disorders diagnosis, Neurocutaneous Syndromes diagnosis
- Abstract
Gómez-López-Hernández syndrome (GLHS) is a rare neurocutaneous syndrome characterized by the triad of rhombencephalosynapsis, trigeminal anesthesia, and bilateral parieto-occipital alopecia. We herein describe the first Japanese patient with GLHS characterized by the standard triad with typical craniofacial anomaly including hypertelorism, brachyturricephaly and midface retrusion, and a short stature. This female patient had also exhibited fever-induced convulsive seizures and psychomotor developmental delay since infancy. Brain magnetic resonance imaging showed severe rhombencephalosynapsis, supratentorial abnormalities (aplasia of the septum pellucidum, severe ventricular enlargement, and hypoplasia of the corpus callosum), and hippocampus atrophy. Bilateral ectopic cerebellums were also observed. This report describes the long-term clinical outcome of GLHS and a new neuroradiological finding regarding rhombencephalosynapsis., (Copyright © 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.)
- Published
- 2015
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