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1.
Radiol Case Rep ; 19(9): 3637-3642, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38983288

RESUMO

Tuberous sclerosis complex is a multisystem genetic disease with autosomal dominant inheritance, characterized by the development of benign tumors known as hamartomas that affect multiple organs. It is a condition with a wide phenotypic spectrum, and its clinical presentation varies over time within the same individual. Hence, the importance of early screening and rigorous monitoring of evolving clinical manifestations. Diagnosis can occur at any age. These tumors are generally benign, but their size and location can have a significant impact on the prognosis and, in some cases, even on life expectancy. Cardiac, neurological, and cutaneous manifestations are most common in childhood. The onset of early and severe epilepsy within the first year of life is associated with neurodevelopmental disorders that impact the quality of life for affected individuals and their families. We present a case of a 22-year-old female patient experiencing inaugural epileptic seizures in adulthood, with magnetic resonance imaging revealing subependymal hamartomas, cortical tubers and radial migration bands accompanied by polycystic kidney disease; the diagnosis of tuberous sclerosis complex was established based on the association of these lesions, which constitute major and minor criteria.

2.
Radiol Case Rep ; 18(11): 3861-3864, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37670925

RESUMO

Schizencephaly, a rare congenital cerebral deformity that affects the cerebral mantle and is caused by both hereditary and acquired factors, is defined by a cleft that spans the entire cerebral hemisphere from the lateral ventricle to the cerebral cortex. Adult symptoms have only been described in a few cases in the literature. Hemiparesis, developmental delays, or seizures are manifestations of the clinical presentation, which is dependent on the size and location of the lesion. Neuroimaging investigations, particularly MRI, enable the diagnosis and rule out other causes. Usually discovered at birth, this entity begins to show up in the first several years. To prevent receiving the wrong treatment, the ailment must be correctly diagnosed. We report the observation of a 43-year-old patient with partial epileptic seizures but with an asymptomatic childhood, in relation to unilateral closed cleft schizencephaly associated with gray matter heterotopia. In this case, we highlight the importance of neuroimaging, in particular MRI on the diagnosis of this entity and to identify the associated anomalies.

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