Dados do Trabalho

Título

AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY (ARSACS): CASE REPORT

Apresentação dos casos

Female patient, eight years old, without complications at birth and daughter of non-consanguineous parents. He had spastic paraparesis with muscle weakness in his limbs, associated with significant motor incoordination, since he was five years old. On examination, he presented nystagmus, dysatry, ataxic-spastic gait, appendicular ataxia, bilateral Babinski sign, diffusely increased deep myotatic reflexes, except for the Achilles reflex, which was abolished. Magnetic resonance imaging of the brain observed atrophy of the superior cerebellar vermis, thinning of the posterior midbody of the corpus callosum, bilateral parietal atrophy on T1-weighted images, bilateral hypointense bands in the pons on T2/(FLAIR) sequences, bilateral hyperintensity of the lateral pons on coronal images on T2 sequences and a hyperintense border around both thalami on T2-weighted images. Fundoscopy showed thickening of the retinal layer of nerve fibers close to the optic disc and a panel for compatible hereditary neuropathies.
Note: the images reported will be present on the banner.

Discussão

Charlevoix-Saguenay autosomal recessive spastic ataxia is an early-onset neurodegenerative disease caused by mutations in the SACS gene. The typical presentation is characterized by cerebellar ataxia associated with spasticity, pyramidal syndrome, peripheral neuropathy, hypermyelination of retinal nerve fibers, among other neurological manifestations. The age of presentation is variable, more common in childhood, initially with gait disturbance, cerebellar ataxia, dysarthria and nystagmus. Spasticity is progressive and dominates the clinical picture. There are two main signs that help distinguish ARSACS from other recessive ataxias: hypermyelination of optic nerve fibers and increased reflexes in the intermediate stage of the disease. The diagnosis is essentially clinical associated with funduscopy, genetic testing, neuroimaging and nerve conduction tests. Magnetic resonance imaging shows bilateral hypointense bands in the paramedian pons and atrophy of the superior cerebellar vermis and cervical spinal cord. Electromyography reveals loss of sensory nerve conduction and reduced motor conduction velocity. The treatment of ataxia is not yet curative, but rather symptomatic and adapted to the needs of each patient.

Comentários finais

It is a little-known entity in our country. And it should be suspected in patients with early-onset spastic cerebellar ataxia and peripheral neuropathy with typical imaging findings.

Referências

Habibzadeh P, Tabatabaei Z, Inaloo S, Nashatizadeh MM, Synofzik M, Ostovan VR, Faghihi MA. Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. Front Genet. 2020 Dec 22;11:585136. doi: 10.3389/fgene.2020.585136. PMID: 33414805; PMCID: PMC7784631.
Mohan M, Qavi A, Kulshreshtha D, Maurya PK, Singh AK, Vijayverman V, Panda A, Sharma S. Early-Onset Spastic Ataxia Due to a Novel Mutation of the SACS Gene - A Case Report from North India with a Review of Indian Literature. Ann Indian Acad Neurol. 2023 Sep-Oct;26(5):836-838. doi: 10.4103/aian.aian_624_23. Epub 2023 Oct 26. PMID: 38022457; PMCID: PMC10666874.

Palavras Chave

ARSACS; Spastic ataxia; peripheral neuropathy