Castellano Courteney, Gomez Rosado Jomaries O, Witt Alexandra, Simon Rebecca, Esharif Dyadin
Dr. Kiran C. Patel College of Osteopathic Medicine, Nova Southeastern University, Fort Lauderdale, USA.
Department of Pediatrics, Broward Health Medical Center, Fort Lauderdale, USA.
Cureus. 2024 Aug 11;16(8):e66648. doi: 10.7759/cureus.66648. eCollection 2024 Aug.
Joubert syndrome is an uncommon, autosomal recessive disorder characterized by abnormal brain development involving the underdevelopment or absence of the cerebellar vermis. The classic clinical features include developmental delays, hypotonia, abnormal eye movements, and hyperpnea. On brain magnetic resonance imaging (MRI), an essential finding for the diagnosis of Joubert syndrome is a cerebellar and brainstem malformation called the molar tooth sign, characterized by a hypoplastic cerebellar vermis with dysplasia of the superior cerebellar peduncles. Here, we describe a case of a two-month-old female with an atypical presentation of Joubert syndrome. Her initial clinical presentation included respiratory distress and concerns for reflux complicated with aspiration pneumonia. Early recognition of clinical and radiologic findings for Joubert syndrome enables an early diagnosis, and therefore timely interventions for improving the child's development and quality of life.
乔伯特综合征是一种罕见的常染色体隐性疾病，其特征是大脑发育异常，包括小脑蚓部发育不全或缺失。典型的临床特征包括发育迟缓、肌张力减退、异常眼动和呼吸急促。在脑部磁共振成像（MRI）上，诊断乔伯特综合征的一个关键发现是一种称为磨牙征的小脑和脑干畸形，其特征是小脑蚓部发育不全，伴有小脑上脚发育异常。在此，我们描述了一例两个月大女性乔伯特综合征的非典型表现。她最初的临床表现包括呼吸窘迫以及对反流并伴有吸入性肺炎的担忧。早期识别乔伯特综合征的临床和影像学表现有助于早期诊断，从而能够及时进行干预以改善患儿的发育和生活质量。
