Agarwal Beena D, Mohapatra Satya, Singh Sumedha, Guduru Vijay, Nayak Soumya R
Radiology, Institute of Medical Sciences and SUM Hospital, Bhubaneswar, IND.
Radiology, Instiute of Medical Sciences and SUM Hospital, Bhubaneswar, IND.
Cureus. 2022 May 11;14(5):e24907. doi: 10.7759/cureus.24907. eCollection 2022 May.
Joubert syndrome (JS) is a rare autosomal recessive neurodevelopmental disorder with characteristic clinical presentation of hyperpnea-apnea spells, hypotonia, dysmorphic facies, and nystagmus and imaging features of molar tooth sign and cerebellar vermian hypoplasia-dysplasia. Early diagnosis is needed for timely management and favorable outcome. We present a case of neonatal JS with renal involvement presenting with respiratory distress and highlight the characteristic clinical and imaging findings. On examination, the baby had low set ears, a large protruding tongue, hypertelorism, and a depressed nasal bridge. Ultrasonography (USG) abdomen showed echogenic kidneys with cortical and medullary cysts. Magnetic Resonance Imaging (MRI) brain showed classical molar tooth sign, vermian hypoplasia-dysplasia, and thinning of the corpus callosum.
乔伯特综合征（JS）是一种罕见的常染色体隐性神经发育障碍，其特征性临床表现为呼吸急促 - 呼吸暂停发作、肌张力低下、面部畸形和眼球震颤，影像学特征为磨牙征和小脑蚓部发育不全 - 发育异常。需要早期诊断以便及时管理并获得良好预后。我们报告一例伴有肾脏受累的新生儿JS病例，该病例以呼吸窘迫为表现，并突出其特征性的临床和影像学表现。检查发现，患儿耳朵低位、舌头大且突出、眼距增宽、鼻梁凹陷。腹部超声（USG）显示肾脏回声增强，伴有皮质和髓质囊肿。脑部磁共振成像（MRI）显示典型的磨牙征、蚓部发育不全 - 发育异常以及胼胝体变薄。
