Abstract
Background: Mucopolysaccharidosis (MPS) is a rare congenital lysosomal storage disorder with complex airways. High anterior larynx is assessed by thyromental distance (TMD) nasendoscopy. A simpler method to assess this hyoid bone is described. The distance between the central-hyoid and symphysis of the mandible (hyo-mental distance; HMD) and inclination of this line to the horizontal axis (hyo-mental angle; HMA) in neutrally positioned patients is investigated. Methods: HMA, HMD in MPS, and non-MPS were compared, and their correlation with height and weight were assessed. Results: 50 adult MPS patients (M = 32, F = 18, age range = 19–66 years; mean BMI = 26.8 kg/m2) of MPS I, II, III, IV, and VI were compared with 50 non-MPS (M = 25, F = 25; age range = 22–84 years; mean BMI = 26.5 kg/m2). Mean HMA in MPS was 25.72° (−10 to +50) versus 2.42° (−35 to +28) in non-MPS. Mean HMD was 46.5 (25.7–66) millimeters in MPS versus 41.8 (27–60.3) in non-MPS. HMA versus height and weight showed a moderate correlation (r = −0.4, p < 0.05) in MPS and no significant correlation (r < 0.4, p > 0.05) in non-MPS. HMD versus height and weight showed no correlation (r < 0.4, p > 0.05) in both groups. Conclusions: HMA seems more acute in MPS despite nearly the same HMD as non-MPS, signifying a high larynx, which may be missed by TMD.
Highlights
Mucopolysaccharidosis are a group of inherited congenital multisystem diseases due to a deficiency in enzymes required for the breakdown of complex mucopolysaccharides.Mucopolysaccharidoses (MPSs) are rare, inherited, lysosomal storage diseases with a combined incidence of 1 in 22,000 [1]
Retrospective analysis of case notes and radiological investigations was performed as part of routine care of 50 adult MPS patients and comparison with 50 healthy adults of similar age, gender, and body mass index (BMI)
Radiological cross-sectional images of 50 MPS and 50 non-MPS patients were included in the study
Summary
Mucopolysaccharidosis are a group of inherited congenital multisystem diseases due to a deficiency in enzymes required for the breakdown of complex mucopolysaccharides.Mucopolysaccharidoses (MPSs) are rare, inherited, lysosomal storage diseases with a combined incidence of 1 in 22,000 [1]. There are seven types of MPS depending on the type of enzyme deficiency (Table 1). The manifestations of this disease are multisystemic, resulting in shortened longevity [2]. With advances in treatment modalities, such as hematopoietic stem cell transplantation (HSCT) [3] and enzyme replacement therapy (ERT) [4], the longevity of these patients has increased posing newer problems. Most of these patients will need general anesthetic for surgery at some point in their lifetime due to multi-system involvement. The method commonly used to assess a high or anterior larynx are measurement of the thyromental distance
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