Síndrome de Joubert: presentación de cinco casos
Objective. To review clinical features, radiological findings and prognosis in Joubert syndrome. Material and methods. We report 5 children (3 male and 2 female) with the diagnosis of Joubert syndrome by clinical and radiological findings. They were diagnosed in the first year of life, in the Hospital Infantil La Paz (Madrid, Spain), from 1971 to 1996. Three patients have already been published, and here, we report two new cases. Results. Partial absence of the cerebellar vermis, hypotonia and developmental delay were seen in all patients. Other cardinal findings were episodic hyperpnoea (5/5) with periods of apnoea (2/5), abnormal eye movements (2/5) and strabismus (3/5), tongue protrusion (2/5), seizures (1/5), hemifacial spasms (1/5) and occipital meningocele (2/5). Clinical manifestations were first noticed soon after birth. Two patients died in the first 5 years of life, and the rest of the cases actually show severe mental retardation. Conclusions. Joubert syndrome is a rare and probably underdiagnosed syndrome with bad prognosis. This inherited condition is characterized by agenesis of the cerebellar vermis, mental retardation, hypotonia, episodic hyperpnoea and abnormal eye movements. Additional manifestations have been reported since the original cases were described
Resultados Todos los pacientes presentaban agenesia parcial del vermis cerebeloso, hipotonía y retraso psicomotor. Otros hallazgos fueron: hiperpnea episódica (5/5), con fases de apnea (2/5); movimientos oculares anormales (2/5) y estrabismo (3/5); movimientos de protrusión de la lengua (2/5); crisis convulsivas (1/5); espasmos hemifaciales (2/5) y meningocele occipital (2/5). Las alteraciones clínicas se observaron en el primer mes de vida en todos los casos. Dos pacientes fallecieron antes de los 5 años de vida y el resto muestran actualmente serio retraso psicomotor.
Conclusiones El síndrome de Joubert es una enfermedad poco frecuente, probablemente infradiagnosticada, y con mal pronóstico. Este cuadro de carácter hereditario se caracteriza por agenesia del vermis cerebeloso, retraso psicomotor, hipotonía, hiperpnea episódica y movimientos oculares anormales. Otras manifestaciones adicionales han sido referidas desde la descripción de los primeros casos
