Radiodiagnosis, Topiwala National Medical College and B.Y.L.Nair Charitable Hospital, Mumbai, Maharashtra, India.
Radiodiagnosis, Topiwala National Medical College and B.Y.L.Nair Charitable Hospital, Mumbai, Maharashtra, India
BMJ Case Rep. 2023 Nov 22;16(11):e253556. doi: 10.1136/bcr-2022-253556.
Pontine tegmental cap dysplasia (PTCD) is a rare hindbrain malformation syndrome. Recurrent aspiration pneumonia is a major cause of death during a first year of life. We report the case of month-old child with an inability to suck milk since birth and multiple convulsions. PTCD was identified using tractography and MRI. This case report describes the imaging findings, the role of diffusion tensor imaging in PTCD and its differentiating features from Joubert syndrome and related disorders (JSRDs). The constellation of imaging features in PTCD includes a midbrain appearance resembling a molar tooth, a flattened anterior pontine belly, hypoplastic middle cerebellar peduncles and dorsal pontine tegmental cap. 'Tegmental cap' is a transversely oriented abnormal bundle of fibres with absent superior cerebellar peduncle decussation. Accurate diagnosis with MRI and tractography and differentiating PTCD from JSRD would help the clinician for appropriate genetic counselling and prognosis.
桥脑被盖发育不良（PTCD）是一种罕见的后脑畸形综合征。反复吸入性肺炎是生命第一年死亡的主要原因。我们报告了一例出生后即无法吸吮母乳且多次抽搐的 1 个月大婴儿病例。通过轨迹和 MRI 识别出了 PTCD。本病例报告描述了影像学发现、弥散张量成像在 PTCD 中的作用及其与 Joubert 综合征及相关疾病（JSRD）的鉴别特征。PTCD 的影像学特征组合包括类似臼齿的中脑外观、扁平的前桥脑腹侧、发育不良的小脑中脑脚和背侧桥脑被盖。“被盖帽”是一种横向异常纤维束，上小脑脚交叉缺失。MRI 和轨迹的准确诊断以及将 PTCD 与 JSRD 区分开来，将有助于临床医生进行适当的遗传咨询和预后。
