Sialidosis type I (cherry red spot-myoclonus syndrome).
Sialidosis type 1 or the cherry red spot-myoclonus syndrome (CRSM) is an autosomal recessive disorder with the onset in adolescence of myoclonus and gradual visual failure. Here, a case of CRSM in a 12-year-old Bengali Muslim girl with the history of myoclonic jerks of limbs and the body since last 2 years and gradual impairment of vision since last one year is presented with a brief review of the literature.
Department of Paediattrics, IPGMER & SSKM Hospital, Kolkata.
Sutapa
S
Ganguly
Rajesh U
RU
Gabani
Sandeep
S
Chakraborty
S B
SB
Ganguly
D002648:Child; D003941:Diagnostic Techniques, Ophthalmological; D005260:Female; D006801:Humans; D009081:Mucolipidoses / Q000150:complications / Q000175:diagnosis*; D014786:Vision Disorders / Q000209:etiology