Familial occurence of congenital bilateral perisylvian syndrom

Introduction: The congenital bilateral perisylvian syndrom (CBPS) is a cortical development malformation with high variance in clinical appearance. Bilateral operculum syndrom with diplegia of facial muscles, dysphagia and speech impairment is the most severe appearance. Intractable epilepsy is often associated.

The etiology is unclear. Most cases are sporadic, although families with several affected individuals are described. In these cases X-linked inheritance is suggested. In most families, males are more severly affected than females. Several gene loci are described.

We report a girl that was referred to our clinic because of speech delay at the age of 3.

She is the 4th child of non-consanguineous healthy parents. A six year old brother was diagnosed with bilateral operculum syndrom. Two other brothers suffer from ADHD resp. a mild retardation.

At the age of 3 years the patient used about 20 words and showed little vocalisation. Oral feeding was difficult, the girl preferred smooth food.

Clinical examination showed orofacial hypotonia and hypersalivation. Facial expression and gag reflex were not impaired. Speech comprehension was impaired although audiometry was normal.

Further examination showed CBPS in MRI.

Conclucion:

• Even in milder forms of impaired oral motor function and speech delay MRI should be performed to rule out CBPS.

• Family studies showed that clinical manifestation is extremely variable with some affected members showing no clinical signs at all. Therefore further examination in families with affected children shoud be considered.