Hypothalamic hamartoma with bilateral anophthalmia.

INTRODUCTION

Hypothalamic hamartomas are congenital malformations. Clinically, they can be asymptomatic, but they cause seizures, mental retardation and precocious puberty in many cases.

CASE REPORT: A 20-day-old boy with hypothalamic hamartoma and bilateral anophthalmia was presented. Except those, no other congenital anomaly was detected.

CONCLUSION

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.