Pontine tegmentum-dysplasi

Definisjon

A rare syndrome with a brainstem malformation as a major feature characterized by ventral pontine hypoplasia, dorsal cap projection into the forth ventricle and cranial nerve dysfunction. Clinical manifestations of multiple cranial nerves deficits, pyramidal and cerebellar signs include neonatal hypotonia, ataxia, sensorineural deafness, reduced vision, language and speech disorders, feeding and swallowing difficulties, facial paralysis and intellectual disability. Various cardiac, gastrointestinal, genitourinary and skeletal defects have been sometimes reported.