A case report of Joubert syndrome with renal involvement and seizures in a neonate.

ABSTRACT: Joubert Syndrome is a rare autosomal recessive genetic disorder characterized by a distinctive midbrain-hindbrain malformation that gives the appearance of "the molar tooth sign" on axial magnetic resonance imaging (MRI). Mutations in the implicated genes, affect proteins integral to cellular structures like the primary cilium, basal bodies and centromeres, categorizing Joubert syndrome as a ciliopathy. The most common clinical manifestations include moderate to severe hypotonia in early infancy with ataxia developing later in life, abnormal breathing patterns (tachypnea, apnea), atypical eye movements, development delay and intellectual disabilities. Differential diagnosis between different ciliopathies is challenging due to the overlapping clinical features. French neurologist Mar

SUBMITTER: Ahmetgjekaj I 

PROVIDER: S-EPMC7921194 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature