Joubert syndrome surviving to adulthood associated with a progressive movement disorder

Abstract

A 48-year-old man presented with a progressive gait disorder. He had longstanding ataxia, oculomotor apraxia, motor delay, and cognitive impairment, diagnosed as cerebral palsy. Physical examination revealed ataxia, oculomotor apraxia, extrapyramidal signs, and a wide-based, shuffling gait. Magnetic resonance imaging showed vermian aplasia, consistent with Joubert syndrome. Positron emission tomography scan revealed normal fluorodopa uptake, but elevated raclopride binding, compatible with dopamine deficiency. This case demonstrates that a patient with Joubert syndrome may survive into adulthood and present as a chronic neurologic disorder with subacute extrapyramidal signs.

Adult Presentation of Joubert Syndrome Presenting With Dysphagia: A Case Report

“…JS is a rare inherited congenital cerebellar ataxia with an estimated prevalence of 0.5 in 100,000 in the overall population and 1.8 per 100,000 in children [ 1 ]. It was first described by Dr. Marie Joubert in 1968 in four siblings with agenesis of cerebellar vermis presenting as episodic hyperpnea, abnormal eye movements, ataxia, and intellectual disability [ 3 ].…”

“…Although some patients survive to adulthood with comorbidities including motor and intellectual disability, many others do not survive. In general, it presents in childhood with hypotonia, ataxia, tachypnea, and oculomotor apraxia [ 3 ]. However, it has a wide range of presentations depending on the subtype present in the patient [ 2 ].…”

Animals in the Brain

“…Joubert syndrome is a polysymptomatic neurogenetic condition generally manifesting in the neonatal period with hypotonia, respiratory difficulties, and oculomotor apraxia, and, later, ataxia, cognitive, and motor delay . The rare patients who survive into adulthood may develop a parkinsonian syndrome .…”

“…Joubert syndrome is a polysymptomatic neurogenetic condition generally manifesting in the neonatal period with hypotonia, respiratory difficulties, and oculomotor apraxia, and, later, ataxia, cognitive, and motor delay . The rare patients who survive into adulthood may develop a parkinsonian syndrome . Neuroimaging characteristically shows vermian aplasia with elongated superior cerebellar peduncles forming a “molar tooth sign” and the resulting enlarged fourth ventricle adopts a “bat wing” appearance (Fig.…”

A Case of Adulthood Joubert Syndrome

“…Several years later, midbrain-hindbrain malformation, the"molar tooth sign" (MTS), was detected first in JS and was considered as pathognomonic sign 2 .The term "Joubert Syndrome and Related Disorders" (JSRD) was then introduced to describe all conditions sharing the MTS 3 , and this neuro-radiological sign is now considered as the mandatory criterion to diagnose JSRD. Many patients die in infancy or childhood due to marked breathing problems, but some survive into adulthood with variable cognitive and motor impairments 4,5 . Here, we discuss an adult case which was diagnosed principally by magnetic resonance imaging (MRI) finding of the typical "molar tooth sign", and by manifestation of other related clinical symptoms, including mental retardation, dysphasia, nystagmus and longstanding ataxia.…”