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.     

Spontaneous disappearance of a suprasellar arachnoid cyst: case report and review of the literature

Introduction Suprasellar arachnoid cysts are uncommon developmental anomalies that are most often diagnosed in childhood. Because the natural history and pathogenesis of these remain poorly defined, optimal treatment guidelines are not yet established.Case report We report a case of spontaneous disappearance of a suprasellar arachnoid cyst that persisted after a ventriculoperitoneal shunt performed 10 years earlier. A 5-year-old boy presented with impaired visual acuity and urinary incontinence. Magnetic resonance (MR) imaging showed a large suprasellar cyst with noncommunicating hydrocephalus. A ventriculoperitoneal shunt was put in place to alleviate current aggravation of hydrocephalus symptoms. Because of the persistent size of the cyst and signs of brainstem compression on a repeat computed tomography (CT), we recommended surgical exploration and decompression. However, the boy’s parents declined any further surgical treatment, and the patient was subsequently lost to follow-up for 10 years. When the patient returned to our clinic at the age of 15 years, a repeat MR scan showed a complete disappearance of the cyst. His family denied any significant interval history.Discussion This case represents only the third reported case of spontaneous disappearance of a suprasellar arachnoid cyst. We discuss possible mechanisms and clinical characteristics of the disappearance of the arachnoid cyst with review of the literature.