A Single Institutional Experience with Joubert Syndrome: The Past and Present

Joubert syndrome is an autosomal recessive disorder characterized by a variable combination of mental retardation, cerebellar ataxia, episodic hyperpnea, eye movement abnormalities, generalized hypotonia, and the molar-tooth sign visible on brain imaging. The number of reported cases has been escalating escalating all over the world since the description of the syndrome by the late French neurologist Marie Joubert in 1969, but the syndrome remains under-diagnosed; failure to recognize its core features and unfamiliarity with the brain imaging findings are the main culprits. In 2011, we reported on three Iraqi children who had been diagnosed with Joubert syndrome and it was the first-ever published case series from Iraq. Two of them were already misdiagnosed as ataxic cerebral palsy and hereditary spinocerebellar ataxia. The third child presented with delayed milestones. During the past 2 years, we have been regularly following-up those children on an outpatient basis, every 6 months. The first child’s epilepsy has been well-controlled and no breakthrough seizures have been reported while the second child’s diffuse icthyosis has been more or less the same; their moderate intellectual disability and cerebellar ataxia have been plateaued. The third child’s Leber’s congenital amaurosis and poor vision hasn’t progressed further and he is unable to sit or stand without major assistance; his age is 2 years and 7 months. None of the children has a family history of the same illness. No renal or hepatic involvements have been found during the past 2 years of follow-up.