Hypothalamic hamartoma with bilateral anophthalmia.
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.
Bilginer
Burçak
B
Department of Neurosurgery, Hacettepe University School of Medicine, Ankara, Turkey. burcak@tr.net
Akbay
Atilla
A
Akalan
Nejat
N
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