A case of Sotos syndrome with subduroperitoneal shunt.

Abstract

The authors present a case of Sotos syndrome with increasing severity of subdural hygroma from the age of 5 months, which was managed with a subduroperitoneal shunt at 10 months of age. The patient had been followed up until 30 months of age with continuing improvement of symptoms. The patient initially presented with dolichocephaly accompanied by macrocrania, early tooth development, repeated pneumonia infections and developmental retardation concerning crawling, sitting, walking and speaking at 5 months of age. Magnetic resonance imaging (MRI) demonstrated partial hypoplasia of the corpus callosum and bifrontal subdural hygroma. The patient underwent subduroperitoneal shunting at 10 months of age with partial improvement of symptoms. At 18 months of age, the patient showed increased irritability and sweating, and development of spinal kyphosis, which resulted from shunt malfunction as shown in the shuntogram. The appearance of cervical syringomyelia was also seen in the MRI. After shunt revision, the irritability, sweating and kyphosis improved along with disappearance of the syringomyelia. The authors describe a case of Sotos syndrome with subduroperitoneal shunt that showed syringomyelia which developed with shunt malfunction but disappeared after shunt revision. We emphasize the importance of active management such as subduroperitoneal shunting to drain the cerebrospinal fluid in the Sotos syndrome.