A 10-year-old girl with Joubert syndrome and chronic kidney disease and its related complications

摘要

Joubert syndrome (JS) is a rare genetic disorder of recessive neurodevelopmental disorder characterized by distinctive cerebellar vermis and mid-hindbrain hypoplasia/dysplasia called the “molar tooth sign” (MTS) (1). Patients present with symptoms characteristic of hypotonia in infancy and later develop ataxia, ocular motor apraxia, and may also present with developmental delays or intellectual retardation. Defined by the central nervous system features, JS also affects many other organs, such as the kidneys, liver, and bones. It is challenging to diagnose JS when patients present with atypical clinical features for other organ systems. In this paper, we report a case of a 10-year-old female with atypical presentation of JS (type 7), which was diagnosed by genome sequencing analysis. The patient was diagnosed with chronic kidney disease (CKD) and experienced complications, including renal anemia and renal osteoarthropathy. Magnetic resonance imaging (MRI) of her axial brain showed the MTS. This case emphasizes the importance of comprehensive evaluations of JS by clinical diagnosis, imaging, and genetic testing.