Joubert Syndrome with Renal and Cerebral Manifestations: A Case Series of Three Siblings

Abstract

Joubert syndrome is a rare genetic disorder. Marie Joubert made the first official diagnosis of the syndrome in 1969. It is characterised by aberrant neurodevelopment and a complex midbrain-hindbrain malformation which can be seen on the Magnetic Resonance Imaging (MRI) as molar tooth sign. The present case series reports three siblings from a consanguineous marriage. The first child had delayed developmental milestones, ataxia, mental retardation and presented with advanced renal failure and succumbed to uremic complications. The second and third siblings also had similar clinical findings and the diagnosis of Joubert syndrome was confirmed by the presence of molar tooth sign on MRI. The presence of renal failure in them was detected earlier than the first sibling with favourable outcome in both. The characteristic symptoms of Joubert syndrome include developmental delay, intellectual disability, ocular abnormalities, and lack of control over voluntary movements. Each sibling of an affected individual has a 25% chance of developing the disease, a 50% chance of being an asymptomatic carrier, and a 25% chance of being not affected and not being a carrier. Renal involvement occurs in approximately one third of patients. In the present case series, all the siblings were affected by the syndrome and developed renal failure which is extremely rare. Failure to evaluate the renal function in these patients can result in delayed presentation with adverse outcome as seen in the first sibling. The case series highlights the importance of considering this disorder in the differential diagnosis of chronic kidney disease, especially in cases with a family history and other suggestive symptoms and the need for early recognition and management of the disorder, as early intervention and supportive care can improve the patient’s quality of life and prognosis.