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Título

Neuroacanthocytosis with Psychiatric onset: a case report

RESUMO

A 12 years old female, previously healthy, presented progressive neuropsychiatric symptoms, characterized by psychotic behavior. Antipsychotic medications were started and patient had complications of its uses, like malignant neuroleptic syndrome extrapyramidal syndrome. Evolved with choreoathetotic movements disorders and postural instability, being referred to the neurological department in a tertiary hospital.First neurological evaluation showed cognitve impairment, with jeopardize in comprehension, temporospatial disorientation, bizarre behavior (allotriophagy), aggressive posture, bradykinesia and rigidity. Tardive dyskinesia and Schizophrenia were the first hypothesis due to prolonged use of neuroleptic medications (10 years). No improvement of symptoms were observed, albeit optimized therapeutic drugs were prescribed. Further investigation was made, with brain MRI showing only hippocampal atrophy. Serum copper level and ceruloplasmin were normal. Peripheral blood analysis showed acanthocytes.
Discussion: Neuroacanthocytosis is a rare, late onset genetic disorder in which progressive neurological decline associates with acanthocytes (spiculated red blood cells) in the blood, being prevalent in less than one case per one million. The family history, in most cases, is positive, with the main cause being abetalipoproteinemia, an autosomal recessive disease. Common signs and symptoms besides chorea are stereotypic gestures, epileptic seizures, cognitive deficit, amyotrophy, absence of osteotendinous reflexes, high serum creatine kinase level, feeding dystonia, and self-mutilation by biting the lips and tongue. Neuroacanthocytosis was attributed to several mutations in the CHAC (chorea-acanthocytosis) gene, which was later renamed as VPS13A and mapped on chromosome 9q21.2.
Final comments: Studies and research on Neuroacanthocytosis are scarce and, when present, old. This condition is still poorly reported in the medical literature, and is therefore underdiagnosed. There is a need for further research on the subject in order to improve the diagnosis and treatment of these patients.

Palavras Chave

NEUROACANTHOCYTOSIS, PSYCHIATRIC SYMPTOMS, MOVEMENT DISORDER

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