Department of Radiology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India.
Department of Fetal Medicine, Mediscan Systems, Chennai, Tamil Nadu, India.
Neurol India. 2022 Jul-Aug;70(4):1652-1654. doi: 10.4103/0028-3886.355094.
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.
桥脑被盖发育不良（PTCD）是一种非常罕见的后脑畸形，最近才被描述，受影响的儿童预后不良。我们提出这个病例是为了提高对这种罕见疾病的认识，并强调早期产前诊断的重要性。一名 25 岁的女性，妊娠 22 周，因小脑发育不良而行胎儿磁共振成像（MRI）检查。产前 MRI 证实小脑发育不良。随后的产后 MRI 显示桥脑腹面变平，桥脑后上呈喙状组织，提示诊断为 PTCD。回顾性胎儿 MR 图像显示符合 PTCD 的特征。据我们所知，这是第五例产前病例，也是最早的 22 周妊娠病例。
