Pontine tegmental cap dysplasia in an extremely preterm infant and review of the literature

Pontine tegmental cap dysplasiais a rare hindbrain malformation syndromewith a hypoplastic pons, a tissue protrusion into the fourth ventricle, and cranial nervedysfunction. We here report clinical, imaging, and genetic findings of the first extremely low-birth-weight preterm infant with pontine tegmental cap dysplasiaborn at 25 weeks of gestation and provide an overview of 29 sporadic cases. A prenatally diagnosed hypoplastic and rostrally shifted cerebellum was indicative of a hindbraindefect and later identified as an early sign of pontine tegmental cap dysplasiain our patient. The neonate exhibited severe muscle hypotonia, persistent thermolability, and clinical signs of an involvement of facial, cochlear, and hypoglossal nerves. Furthermore, paroxysmal episodes of agonizingpain with facial tics, tonic and clonic muscle contractions, blepharospasm, and singultus are highlighted as new phenotypic features of pontine tegmental cap dysplasia. With our report, we present a severe case of pontine tegmental cap dysplasiaand provide a brief overview of current knowledge on this rare disease.