Open in app
×

Complete your profile & earn rewards

Tay-Sachs disease

img-1
Total Views:
238
img-1
Total Likes:
24
img-1
Published By:
Dr Sumer Sethi
img-1
Published On:
12-02-2024

CASE DETAILS:

A male aged 1 year and 7 months, presented to hospital by his mother by seizures, cough, and fever for about one week. He had gone to the hospital twice before due to otitis and pneumonia. His mother related 4 relatives who died before the completion of  two years of life. His parents were healthy and first cousins. He was born at a gestational age of 36 weeks. When the baby was one month old, it was observed that the baby had little power for holding its head or moving its limbs. Since then,  the weakness has become progressively evident. The mother noticed that the baby did not see as other children of the same age. In the hospital initial exam the child had fever, rhonchi on chest auscultation and marasmus-like secondary proteinenergy malnutrition. The neurological examination revealed psychomotor retardation, horizontal and bilateral nistagmus, muscle weakness, generalized hyperreflexia, clumsiness, and presence of Babinski and Moro signal. The ophthalmoscopic examination was very difficult due to the nystagmus, and showed chalk-white macular areas with a “cherry red spot” in the center of both eyes. Assaying for the activity of β hexosaminidase A in the serum revealed a deficiency of this enzyme.

DIAGNOSIS:

Tay-Sachs disease is attributable to the accumulation of GM2 trihexosylceramide secondary to defects of β hexosaminidase A enzyme, caused by mutation in the alpha subunit of the hexominidase A gene on chromosome 15q. GM2 trihexosylceramide accumulates predominantly in retinal ganglion cells whereby retina becomes turbid with milky-white coloration.

MANAGEMENT:

Conservative: Supportive treatment

In patients with TSD because there is no disease-modifying therapy