Very rare. Autosomal recessive transmission. Thesehildren have a clinical appearance is similar to that of mucopolysaccharidoss but  do not excrete mucopolysaccharides in the urine. 

There are 4 types:

-         type I: sialidosis type II;

-         type II or I cell disease [MIM 252 500]: mutations of the GNPTAB gene resulting in a deficiency of the subunits α and β in the N-acetylglucosamine-1-phosphotransferase of Golgi apparatus; hypotonia, coarse features  as early as 6-8 months of age, macroglossia, gingival hyperplasia, signs of rickets at RX; after 2 years, symptoms similar to those of the Hurler disease but the evolution is more rapid (death before the age of 10 years) with hepatomegaly, aortic insufficiency; instability of the atlas-axis joint

-         type III or pseudo-Hurler polydystrophy  [MIM 252 600252 605]: mutations  of the GNPTAB gene resulting in a deficiency of the subunits α and β in N-acetylglucosamine-1-phosphotransferase, or of the GNTPG gene resulting in a deficiency of the subunit γ in N-acetylglucosamine-1-phosphotransferase; phenotype similar to type II but less severe evolution; skeletal abnormalities predominate (type IV); short stature in adulthood (height between 100 and 150 cm); corneal opacities, sometimes aortic insufficiency;

-         type IV [MIM 252 650]: mutations of the MCOLN1 gene on 19p13.3-p13.2: incidence of 1/40.0000 in people of Ashkenazi descent, otherwise extremely rare; corneal opacities, retinopathy and mental deficiency; short stature and microcephaly but no facial dysmorphism nor skeletal abnormalities

Anesthetic implications: 

difficult airway management; difficult intubation in type II where the use of a laryngeal mask is not always easy.

References : 

-         Baines DB, Street N, Overton JH. 
Anaesthetic implications of mucolipidosis. 
Paediatr Anaesth 1993; 3: 303-6.

-         Mahfouz AKM, George G, Al-Bahlani SS, Al Nabhani MZ. 
Difficult intubation management in a child with I-cell disease. 
Saudi J Anesth 2010; 4: 105-7.

-        Mallen J, Highstein M, Smith L, Cheng J. 
Airway management considerations in children with I-cell disease.  
Int J Pediatr Otorhinolaryngol 2015; 79: 760-2. 

-        Dohrmann T, Muschol NM, Sehner S, Punke MA, Haas SA et al.
Airway management and perioperative adverse events in children with mucopolysaccharidoses and mucolipidoses : a retrospective cohort study.
Pediatr Anesth 2020 ; 30 : 181-90

Updated: February 2020