Antenatal presentation and supratentorial brain abnormalities in a child with Poretti-Boltshauser syndrome.

Abstract Autosomal recessively inherited Poretti-Boltshauser syndrome (PBS) with loss-of-function variants in the LAMA1 gene are characterized by motor and speech developmental delay, high myopia, and cerebellar dysplasia with cysts without any supratentorial abnormalities on neuroimaging. There is no muscular involvement. We report an eight months child with genetically confirmed PBS who presented with antenatally detected ventriculomegaly and had global developmental delay, focal seizures, myopic degeneration of fundi. Neuroimaging showed asymmetric ventriculomegaly and lissencephaly in bilateral temporal horns along with cerebellar dysplasia and cysts. These supratentorial abnormalities and antenatal presentation as ventriculomegaly have not been reported earlier. Child also had a small subaortic ventricular septal defect.