Anesthetic Management of a 13-Year-Old Adolescent With Mucolipidosis Type II for Total Hip Arthroplasty

Abstract

Mucolipidosis II (ML II) or inclusion cell disease is a rare lysosomal storage disorder, inherited as an autosomal recessive trait. Deficiency of the lysosomal transport enzyme, N-acetylglucosamine-1-phosphotransferease, results in the intracellular accumulation of macromolecules (mucopolysaccharides and mucolipids) in the lysosome which leads to cellular dysfunction and a multi-system disorder. Manifestations are present at birth including muscle hypotonia, a weak cry, and failure to thrive. Additional physical signs include hip dislocation, inguinal hernia, hepatomegaly, limitation of joint movement, and cutaneous changes. Coarse facial features and skeletal abnormalities become more conspicuous with time. A rapidly progressive psychomotor deterioration, developmental delay and growth failure are often noted with a limited life span of 10 years. Due to the aforementioned physical abnormalities, surgical and anesthetic care may be required. We present a 13-year-old girl with ML II who required anesthetic care for a total hip arthroplasty due to chronic right hip dislocation. Previous reports of anesthetic care for these patients are reviewed, end-organ involvement is discussed, and options for anesthetic care are presented.




J Med Cases. 2017;8(7):203-206
doi: https://doi.org/10.14740/jmc2834w