Document Type

Case Report


Joubert syndrome (JS) is rare autosomal recessive condition characterized by hypotonia, ataxia, psychomotor delay, and variable occurrence of oculomotor apraxia and neonatal breathing abnormalitie,intellectual disability, and specific mid-hindbrain malformation (“molar tooth sign”, MTS) We reportthe case of Joubert syndrome in a 32 years old female patient presenting with intellectual impairment, breathing abnormal breathing patterns like tachypnea followed by apnea ataxia, and seizures. She was diagnosed on the basis of Magnetic Resonance Imaging (MRI) and clinical features. JoubertSyndrome should be considered in all patients presenting with hypotonia, ataxia, nystagmus, breathing abnormalities and developmental delay. Its neuroimaging hallmarks include molar tooth sign and batwing shaped fourth ventricle.Joubert syndrome and related disorders (JSRD) refers to individuals who have JS with additional findings such as eye, renal and hepatic problems. As JS is associated with multiorgan involvement, these patients should enter a diagnostic protocol to assess systemic abnormalities. Extreme caution should be taken while administering drugs in these patients as they are prone to respiratory depression.Early diagnosis of Joubert syndrome and related disorders (JSRD) is important for rehabilitation programmes, prognostic outcome and genetic consultation. Close follow-up is also necessary to identify potential complications of the disease

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