Tay-Sachs disease without cherry-red spot: a case report

Case presentation: Boy, 4 years old. Born term, cesarean for oligohydramnios, without consanguinity. Mother with hypothyroidism, maternal uncle with autism, maternal cousin with epilepsy and paternal cousin with cerebral palsy. Adequate neuropsychomotor up to 2 years of age. At this age, started with ataxic gait, refractory epilepsy, spasticity, language loss and dysphagia. Multiple hospitalizations due to bronchoaspiration pneumonia. Gastrostomy and tracheostomy were performed at 4 years of age. He used levetiracetam, clobazam, valproic acid, nitrazepam and phenytoin at optimized doses, still with bad control of epilepsy. Followed up by palliative care. Cranial MRI showed hyperintensity on T2/FLAIR in the white matter (subinsular, periventricular, thalamus, internal capsule's posterior arm and dentate nucleus). Genetic exam with two heterozygous variants in HexA. Fundoscopic exam was normal. Death at 4 years and 11 months due to status epilepticus.

Discussion: Tay-Sachs disease is a lysosomal maintenance disorder with autosomal β deficiency in the HexA gene. It results in progressive accumulation of GM2 gangliosides in the lysosomes of nerve cells, causing neurodegeneration in childhood (infant form). In adolescents and young adults, it's rare (juvenile form). The patient had typical symptoms of the infant form. In a retrospective study, 90% of patients with GM2 gangliosidosis exhibited cherry-red spots. In another study, 88% of patients had this same change. In the case described, there aren’t typical retinal problems, which is uncommon. Treatment is based on epilepsy control, nutrition and rehabilitation, especially in the infant form, which has a life expectancy of ~5 years. The treatment in this case was focused on combined anticonvulsant therapy as well as nutritional support and palliative care therapy. The patient died at an age close to the average observed in the literature.

Final comments: Absence of ophthalmological alterations in a patient with neurodevelopmental regression doesn’t exclude Tay-Sachs disease, given that the cherry-red spot isn’t mandatory for this diagnosis.

 

Scroll to top

Die Autoren geben an, dass kein Interessenkonflikt besteht.

Publikationsverlauf

Artikel online veröffentlicht:
18. September 2023