Hennekam-syndrome with unusual MRI-changes and symptomatic epilepsy

We report on a 10 years old arabian boy with Hennekam-syndrome, a rare autosomal-rezessiv syndrome characerized by lymphedema, lymphangiektasia, glaucoma, dental abnormalities, hearing loss, typical facial gestalt and developemental delay. The parents are consanguinuos, a cousin of the mother bears striking ressemblance to the patient. Pregnancy and birth were uneventful, the motor development was normal, there was a slight speech delay witch normalizing with speech therapy. The boy has a normal intelligence and attends regular school. He shows the typical facial gestalt of Hennekam-syndrome, besides this he suffers from intestinal lymphatic lymphangiectasia which is well controlled by MCT-diet. He has bilateral atresia of the auditory canal with consecutive conductive hearing loss, explaining his speech delay. He shows an irregular placement of the teeth with delayed eruption and a skull deformity. Epilepsy appeared at the years of age with absences, tonic, myoclonic and bilateral tonic-clonic seizures. Awake and sleep-EEG were normal. The MRI shows massive bilateral periventricular bandheterotopias. Minimal changes in MRI were described in literature, predominantly cysts and pachygyrias, epileptic seizures in Hennekam-syndrome were partly explained by hypomagnesemia, hypocalciemia or disturbed intracerebral fluid homeostasis. Such severe MRI abnormalities with symptomatic epilepsy have not been described before. They are frequently seen in lissenzephaly syndromes. Therefore the Hennekam-syndrome should be also considered in the differenzialdiagnosis for heterotopias.