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Título

Recessive Tay-Sachs Disease: A Clinical Case Study

RESUMO

CASE PRESENTATION Male patient, 3 years and 8 months old, born in Brazil, son of parents with no history of consanguinity, pregnancy discovered at 5 months, with prenatal care and delivery without complications. The patient has a family history of a first cousin with the disease. History of developmental regression from baseline to 2 years, with progression to global ataxia. Cranial magnetic resonance imaging showed signal alteration with atrophic effect affecting the white matter adjacent to the trigones and posterior horns of the lateral ventricles, hypersignal and volumetric reduction of the inner and posterior surface of the thalamus. Fundoscopy showed cherry red spots in the macular area bilaterally. Genetic panel showing homozygous pathogenic mutation of the HEXA gene and deficiency of oxidative phosphorylation by mutation in the PNPT1 gene compatible with the diagnosis of Tay-Sachs disease, with Sodium Valproate being prescribed for the onset of crises. At 2 years and 11 months, the patient had preserved transitive praxis, global ataxia, axis instability without preferential fall, broad-based gait and little movement of the upper limbs, exalted global osteotendinous reflexes with reduced axial tone, and preserved trophism. At 3 years and 5 months, he developed seizures that had not been contained with prescribed medication since the time of diagnosis. The electroencephalogram showed changes with generalized epileptiform activity and carbamazepine was prescribed, with a 90% regression in the number of seizures after two days of medication.
DISCUSSION Tay-Sachs disease is a rare genetic disease transmitted from parents to children. It is caused by the absence of an enzyme that helps break down fatty substances called gangliosides, which reach toxic levels in the brain and spinal cord and affect nerve cell function. Signs and symptoms of the disease usually begin at 3 to 6 months of age. Having a reduction in muscle development and atrophy, evolving, over time, to seizures, loss of vision and hearing, paralysis and other major problems. Tay-sachs disease results in mortality within a few years of life.
FINAL COMMENTS This case study reveals the importance of clinical and imaging follow-up of patients with diseases whose prognosis is reserved, as this, associated with adequate therapy, brings results that in the short term provide a better quality of life for the patient and family.

Palavras Chave

Tay Sachs Disease; Hexosaminidase A Deficiency; Amaurotic Familial Idiocy