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J Int Med Res ; 52(1): 3000605231223450, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38217425

RESUMEN

Tuberous sclerosis complex (TSC), first described in 1880, is a disorder that affects multiple systems. Its symptoms include seizures, intellectual disability, and angiofibromas. TSC is caused by mutations in the TSC1 and TSC2 genes and is inherited in an autosomal dominant manner. The present report describes the case of a patient with an unusual psychological presentation who was evaluated in a psychiatric hospital. A man with poorly managed epilepsy was brought to Botswana's only psychiatric hospital. After clinical assessment, a diagnosis of tuberous sclerosis complex was made, which was later confirmed through neuroimaging and genetic tests. Some of the patient's relatives also showed similar neuropsychiatric symptoms. Given that psychiatry may be the first medical contact for TSC patients, especially in low-resource settings, clinicians need to be knowledgeable of various neuropsychiatric conditions and be aware of the possibility of TSC in patients that present with neurocutaneous manifestations. A multidisciplinary team approach is vital for the investigation and management of such cases.


Asunto(s)
Epilepsia , Esclerosis Tuberosa , Masculino , Humanos , Esclerosis Tuberosa/complicaciones , Esclerosis Tuberosa/diagnóstico , Esclerosis Tuberosa/genética , Botswana , Hospitales Psiquiátricos , Convulsiones , Mutación
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