Autosomal recessive transmission. Oligosaccharidosis caused by a deficiency in alpha-D-neuraminidase (or sialidase) leading to excessive tissue sialidoligosaccharides.

Types:

-        type I (chromosome 10): normal morphology; cherry red macular spot at ophthalmoscopy and myoclonus ("'cherry-red-spot, myoclonus' syndrome) beginning in the second decade; sometimes seizures

-        type II (or mucolipidosis type I, see tis term) (chromosome 6 p): congenital, infantile and juvenile forms. Clinical appearance similar to mucopolysaccharidoses with facial dysmorphism, obstructive apnea, hepatosplenomegaly, kyphoscoliosis, coronary and valvular problems.

Anesthetic implications:

If type II: difficult intubation.

References : 

• Tran QHD, Kaufman I, Schricker T. 
  Spinal anesthesia for a patient with type I sialidosis undergoing abdominal surgery. 
  Acta Anaesthesiol Scand 2001; 45: 919-21.
• Baines DB, Street N, Overton JH. 
  Anaesthetic implications of mucolipidosis. 
  Paediatr Anaesth 1993; 3: 303-6.

Updated: September 2018