Tay-Sachs disease with atypical evolution: case report

Case presentation: Patient R.P.C., birth 06/10/2019, female, referred from pediatric clinic at two years old due to speech regression. In August 2021, she underwent routine funduscopy, due to prematurity, showing a red cherry spot. In her neuropsychomotor development, she presented cephalic support at three months of age, sat up at eight months, walked at 11 months, started two-syllables at nine months, but regressed, and currently only emits sounds. No story of seizures. On neurological examination, she walks without support. Motor coordination apparently preserved. Diagnostic screening tests performed: Fundoscopy (2021): Red cherry spot. Electroencephalogram (2022): Within normal limits. Investigation of Tay-sachs Disease performed on 01/13/2022, with Lysosomal gene sequencing analysis, identifying two pathogenic variants in HEXA, associated with the autosomal recessive gene of Tay-sachs disease, confirmed with Hexosaminidase A and B Dosage performed day 03/12/2022, with the following result: HEXOSAMINISADE A: 16.9 nmol/h/mL; HEXOSAMINIDASE A (Activity): 1.6%.

Discussion: Tay-Sachs disease is within the GM2 gangliosidosis group. The infantile type has progressive neurological deterioration until, at two years of age, patients develop descerebrate posture, dysphagia, non-responsive and vegetative state. An early and persistent manifestation is the 'startle reaction'. The most frequent pathology associated with the presence of cherry-red spot is Tay-sachs disease infantile type, found in all patients up to 6 months of age. In the juvenile type of the syndrome this manifestation is less frequent. Our patient best fits the infantile entity, due to the age of onset of symptoms, presence of cherry red spot in addition to 'startle reaction'. However, its clinical presentation is considered atypical since it does not present all the commemorative ones described in the literature for her age: 3 years of age maintains preserved gait and swallowing and has no convulsive episodes to date. There is no efficient treatment for Tay-Sachs disease, but anti-epileptics can be prescribed. A treatment aimed at inhibiting gangliosides synthesis (Miglustat) is currently being investigated for the slowly progressive forms.

Final comments: Tay-Sachs disease is a genetic autosomal recessive inheritance pattern with progressive neurology evolution. As described in this report, the disease has rapid and degenerative evolution, however, the diagnosis cannot be ruled out in patients with delayed progression.

No conflict of interest has been declared by the author(s).

Publication History

Article published online:
18 September 2023