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Título

ENTPD1-RELATED NEURODEVELOPMENTAL DISORDER – CASE REPORT

Apresentação do caso único

A boy white was admitted at 2 years and 5 months with a global neuropsychomotor developmental disorder. This disorder was characterized by mixed tetraparesis, with greater impairment of the right hemibody, ataxia, hypotonia, and muscle hypotrophy, without signs of pyramidal release or orthopedic deformities. He was anarthric, had evident cognitive delay, mild oropharyngeal dysphagia, and sialorrhea. There were no reports of gestational or perinatal distress; Apgar scores of 7 and 9, and hospital discharge after three days of phototherapy for neonatal jaundice. With a history of parental consanguinity, he achieved head control at 3 months, sat unsupported at 7 months, and walked with a walker at 15 months. He showed left-hand dominance with dystonic movements of the right hand. A brain MRI (Sep/2023) revealed slight diffuse cerebellar atrophy, T2 hyperintensity in the posterior arm of the internal capsules bilaterally, inferior left perisylvian polymicrogyria, and mild cerebral volume reduction. In the last two years, his lower limb strength worsened, necessitating a wheelchair. He is enrolled in APAE education, followed by an occupational therapist and psychologist, and participates in swimming twice a week. Various exams were normal, with no history of epileptic seizures. He underwent ophthalmologic surgery for bilateral cataracts in Dec/23. Whole-exome sequencing confirmed a neurogenetic disorder related to the ENTPD1 gene, classified as spastic paraplegia type 64, autosomal recessive, OMIM#615683. The family was informed about the 25% recurrence risk and the possibility of preimplantation diagnosis. Currently, there is no curative treatment. The family signed the informed consent form.

Discussão

The case of a boy diagnosed with spastic paraplegia type 64 (related to the ENTPD1 gene, OMIM#615683), exemplifies the complexity of neuropsychomotor developmental disorders. The disorder involves mixed tetraparesis, ataxia and hypotonia. MRI revealed cerebellar atrophy and changes in the internal capsule.

Comentários finais

Parental consanguinity increases the risk of rare genetic diseases. The ENTPD1 mutation causes neurological disorders due to ATP accumulation. Spastic paraplegia type 64 is rare, with progressive weakness and spasticity of the lower limbs. Genetic counseling is essential. Currently, there is no cure; interventions focus on rehabilitation and quality of life. This case highlights the need for genetic evaluation and therapeutic interventions.

Referências

1. Balasubramanian, R., Kannan, M. A., Kumar, V. A., & Shukla, A. (2017). Clinical spectrum of paraparesis spastic type 64 and its association with ENTPD1 gene. Journal of Neurogenetics, 31(4), 235-240.

2. Breslow, D. K., Collins, S. R., Bodenmiller, B., Aebersold, R., & Weissman, J. S. (2018). The impact of ATP dysregulation on neurodegenerative diseases. Nature Reviews Neuroscience, 19(3), 137-148.

3. Houlden, H., et al. "Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia." Annals of Neurology, 2022. Link

4. ClinVar - NCBI. "VCV000802624.2 - ENTPD1 Gene Variant." National Center for Biotechnology Information, 2019. Link

5. OMIM Entry #615683 - "Paraparesia Espástica Tipo 64 (SPG64)." Online Mendelian Inheritance in Man, Johns Hopkins University. Link

Palavras Chave

Neurodevelopmental disorder; Spastic Paraparesis; Consanguinity