Fetal Pontine Tegmental Cap Dysplasia- A Case Report

Pontine tegmental cap dysplasia (PTCD) is a very rare hindbrain malformation recently described and the affected children show a bad prognosis. We present this case to increase the awareness of this rare condition and to highlight the importance of early prenatal diagnosis. A 25 years old female with 22 weeks gestation was referred after sonography for fetal magnetic resonance imaging (MRI) in the evaluation of cerebellar hypoplasia. Prenatal MRI confirmed cerebellar hypoplasia. Follow up postnatal MRI showed flattening of the ventral pons, beak-like tissue in the posterosuperior pons suggesting the diagnosis of PTCD. In retrospect the fetal MR images revealed features consistent with PTCD. To the best of our knowledge, this is the fifth prenatal case and with the earliest gestational age of 22 weeks.