title: Hypothalamic hamartoma with bilateral anophthalmia.
abstract: BACKGROUND
  Hypothalamic hamartomas are congenital malformations. Clinically, they can be asymptomatic, but they cause seizures, mental retardation and precocious puberty in many cases.
  
  
  METHODS
  A 20-day-old boy with hypothalamic hamartoma and bilateral anophthalmia was presented. Except those, no other congenital anomaly was detected.
  
  
  CONCLUSIONS
  This is a rare case of hypothalamic hamartoma with bilateral anophthalmia. The mutations at SOX2 has an important role in the developing brain and eyes.
authors: Department of Neurosurgery, Hacettepe University School of Medicine, Ankara, Turkey. burcak@tr.net
authors: Burçak
authors: B
authors: Bilginer
authors: Atilla
authors: A
authors: Akbay
authors: Nejat
authors: N
authors: Akalan
mesh_terms: D000853:Anophthalmos / Q000150:complications*; D005500:Follow-Up Studies; D006222:Hamartoma / Q000150:complications / Q000473:pathology*; D006801:Humans; D007029:Hypothalamic Neoplasms / Q000150:complications / Q000473:pathology*; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male