Gómez-López-Hernández syndrome in a Japanese patient: a case report

Brain Dev. 2015 Mar;37(3):356-8. doi: 10.1016/j.braindev.2014.05.002. Epub 2014 May 21.


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.

Keywords: Alopecia; Gómez–López-Hernández syndrome; Rhombencephalosynapsis; Trigeminal anesthesia.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / pathology
  • Abnormalities, Multiple / physiopathology
  • Alopecia / diagnosis*
  • Alopecia / pathology
  • Alopecia / physiopathology
  • Cerebellum / abnormalities*
  • Cerebellum / pathology
  • Cerebellum / physiopathology
  • Child, Preschool
  • Craniofacial Abnormalities / diagnosis*
  • Craniofacial Abnormalities / pathology
  • Craniofacial Abnormalities / physiopathology
  • Female
  • Growth Disorders / diagnosis*
  • Growth Disorders / pathology
  • Growth Disorders / physiopathology
  • Humans
  • Japan
  • Magnetic Resonance Imaging
  • Neurocutaneous Syndromes / diagnosis*
  • Neurocutaneous Syndromes / pathology
  • Neurocutaneous Syndromes / physiopathology
  • Rhombencephalon / pathology
  • Rhombencephalon / physiopathology

Supplementary concepts

  • Gomez Lopez Hernandez syndrome