Dados do Trabalho

Título

PROGRESSIVE CAVITATING LEUKOENCEPHALOPATHY ASSOCIATED WITH APOPT1 GENE MUTATION: A CASE REPORT

Apresentação do caso único

L.S.M, male, 11-year-old, had normal development until age 4 when he began experiencing subacute onset of weakness in the left lower limb, progressing to contralateral lower limb paresis and upper limb weakness, followed by truncal and head control loss over one month. Laboratory tests were conducted without relevant alterations, cerebrospinal fluid analysis showed elevated lactate, and cranial MRI revealed signal abnormalities in the white matter on T2-weighted images. Initial treatment included corticosteroid pulse therapy and physiotherapy, resulting in progressive symptom improvement, with residual gait difficulties. After 10 days, he experienced clinical worsening with dysphagia and sphincter control loss, improving with intensified rehabilitation, maintaining only appendicular ataxia. Genetic investigation via Exome sequencing in an outpatient setting identified heterozygous deletion of exons 4 to 5 in the APOPT1 gene, confirming the diagnosis of Progressive Cavitating Leukoencephalopathy (PCL). Following a period of clinical stability, he had two episodes of worsened gait in 2020, improving with rehabilitation. Currently stable, he exhibits appendicular ataxia but can ambulate unsupported. He receives L-Carnitine, Riboflavin, Coenzyme Q-10, and ongoing physiotherapy.

Discussão

Progressive Cavitating Leukoencephalopathy (PCL) is a childhood neurodegenerative syndrome characterized by irregular leukoencephalopathy with cavitations and white matter signal changes on MRI. Clinical course involves acute or subacute deficits typically occurring between 3 months and 5 years of age, with intermittent elevation of serum lactate and cerebrospinal fluid lactate during investigations. It presents in recurrent bouts of neurological deterioration with remissions and stable periods, allowing for potential recovery of some skills. Disease severity varies from mild to severe based on the affected gene, encompassing a wide range of clinical phenotypes. The pathogenesis is poorly understood; however, it is known to involve mitochondrial metabolism defects, particularly affecting Complex IV function mediated by APOPT1, contributing to observed alterations.

Comentários finais

This case demonstrates the importance of detailed history-taking, comprehensive laboratory and imaging evaluations for early diagnosis, as well as the relevance of genetic testing in elucidating complex clinical conditions and disease.

Referências

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Palavras Chave

LEUKOENCEPHALOPATHY; APOPT 1; COMPLEX IV