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 252 600, 252 605]: 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
difficult airway management; difficult intubation in type II where the use of a laryngeal mask is not always easy.
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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