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.

I-Cell Disease (Mucolipidosis II): A Case Series from a Tertiary Paediatric Centre Reviewing the Airway and Respiratory Consequences of the Disease

“…The recommendation is to have a full multidisciplinary experienced team and to ensure that a difficult airway algorithm is followed. Importantly a recent review (Hakim et al 2017) has revealed that the status of a child's airway with I-cell disease deteriorates with age, so it is vital to be prepared to encounter difficulties even in the context of a patient that has previously had an uncomplicated anaesthetic. This has been demonstrated within our patient cohort with our patient number 5 undergoing two anaesthetic procedures: the first being uncomplicated at age 4 months and the second resulting in reintubation and the use of a GlideScope at aged 31 months.…”

Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene

“…Their combined frequency is about 1: 422,000 live births. Worldwide estimates showed that ML II occurs in about 1 in 100,000 to 400,000 individuals [7]. The estimated incidence of ML is 2.5 and 10 cases per 1,000,000 live births across the world [15,17].…”