Summary: Tuberous sclerosis (TS) is a rare genetic disease of autosomal-dominant transmission. Mutations in either the tuberous sclerosis complex 1 (TSC1) or tuberous sclerosis complex 2 (TSC2) genes result in hamartomas affecting many organs, such as the brain, heart, kidneys, skin, lungs and liver. We report the observation of a 17-year-old girl with facial angiofibromas, hypo-pigmented skin lesions on the lower back and back of the right wrist and a history of seizures. The patient was admitted to the emergency department for treatment-resistant status epilepticus and was referred to our training for magnetic resonance imaging (MRI) of the brain. Brain MRI revealed subependymal nodules, cortical tubercles, and white matter abnormalities.
Joubert syndrome is a rare genetic disorder of autosomal recessive inheritance characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis resulting in respiratory disorders, nystagmus, hypotonia, ataxia and delayed motor development. Magnetic resonance imaging allows the diagnosis to be made by demonstrating the "molar tooth sign". We report the observation of an infant aged 1 year 4 months, from a 2nd degree consanguineous marriage, hospitalized for seizures. On examination, she presented with hypotonia. She had abnormal eye movements such as nystagmus. The cerebral magnetic resonance image revealed hypoplasia of the cerebellar vermis and enlargement of the superior cerebellar peduncles with a "molar tooth" aspect in favor of a Joubert syndrome. The evolution was marked by the installation of a delay in psychomotor development.
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