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Título

SPASTIC PARAPLEGIA TYPE 52 WITH MUTATION IN THE AP4S1 GENE: A CASE REPORT

Apresentação do caso único

A 6-year-old male patient with a history of epileptic seizures in the presence of fever, delayed neurological development, and spastic tetraparesis. He had a previous history of adequate neurological development until 4 months of age, when his mother noticed a delay in his developmental milestones. At 6 months of age, he began having epileptic seizures in the presence of fever, characterized by unresponsiveness, vacant eyes, and hypotonia lasting an average of 10 minutes, and post-ictal drowsiness. Treatment with levetiracetam was started, currently with adequate seizure control. On neurological examination, he presents with microcephaly, axial hypotonia, spastic dysparesis, and dyskinetic movements of the upper limbs associated with gross and fine motor incoordination. Magnetic resonance imaging of the skull shows a significant reduction in the thickness of the isthmus and splenium of the corpus callosum. Electroencephalogram shows disorganization of basic activity, focal epileptiform paroxysms in the frontotemporal and posterior temporal regions, and generalized epileptiform paroxysms. Next-generation sequencing was performed and identified a pathogenic variant in the AP4S1 gene associated with hereditary spastic paraplegia and a pathogenic variant in the EIF2B5 gene associated with autosomal recessive leukoencephalopathy with evanescent white matter

Discussão

Spastic paraplegia type 52 (SPG52) is an autosomal recessive disease caused by mutations in the AP4S1 gene. It presents with a pyramidal pattern of progressive weakness associated with neurodevelopmental delay, cognitive impairment, and language delay. Spastic paraplegia in the pediatric population is rare but serious, and its incidence is increasing. Currently, all spastic paraplegias associated with the AP4S1 mutation present themselves in a complex manner and with a poor prognosis. Epileptic seizures are present in up to 50% of patients, begin before the age of 2 years, and generally occur in the presence of fever. Diagnostic confirmation is made with genetic study.

Comentários finais

There is no specific therapy, and treatment involves symptom control and multidisciplinary therapy. The report demonstrates the evolution of a patient with early diagnosis and good symptom control, even though there is no cure. Maintaining research efforts on this subject is important to expand therapies and improve the patient's prognosis

Referências

ABOU Jamra R, Philippe O, Raas-Rothschild A, et al. Adaptor protein complex deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am J Hum Genet 2011;88:788– 795
EBRAHIMI-FAKHARI, Darius et al. AP-4-associated hereditary spastic paraplegia. 2018.
FINK JK. Hereditary spastic paraplegia overview. GeneReviews®. Seattle: University of Washington; 2000

Palavras Chave

SPASTIC PARAPLEGIA; AP4S1 GENE; epilepsy