PDF(Pubmed)
Abstract：
Joubert Syndrome, manifests in a spectrum of neurological symptoms. This case describes a 7-year-old girl with perinatal complications, and subsequent neurodevelopmental challenges. An MRI confirmed the diagnosis of Joubert syndrome, with the distinctive \"molar tooth sign\" being a key imaging characteristic. Approximately 25% of cases exhibit nephronophthisis, impacting kidney function, further complicating the clinical picture. Diagnosis relies on imaging and management necessitates a multidisciplinary approach, addressing symptoms and complications, with prognosis linked to the presence of organic disease. The case emphasizes the significance of a multidisciplinary strategy, including genetic counseling, and underscores the diverse manifestations of this syndrome. Prenatal identification through ultrasound and MRI plays a crucial role in diagnosing and treating this rare condition.
摘要：
Joubert综合征,表现在一系列神经症状中。这个病例描述了一个7岁的女孩患有围产期并发症，以及随后的神经发育挑战。MRI证实了Joubert综合征的诊断,具有独特的“磨牙标志”是关键的成像特征。大约25％的病例表现为肾单位，影响肾功能，进一步复杂化的临床表现。诊断依赖于成像和管理需要多学科的方法，解决症状和并发症，预后与器质性疾病的存在有关。该案例强调了多学科战略的重要性，包括遗传咨询,并强调了这种综合症的不同表现。通过超声和MRI进行产前检查在诊断和治疗这种罕见疾病中起着至关重要的作用。
