Child's Nervous System 2007-Jul
Hypothalamic hamartoma with bilateral anophthalmia.
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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.
