Clinical Characterization of Mucolipidoses II and III: A Multicenter Study

Abstract

Mucolipidoses (MLs) II and III are rare lysosomal diseases caused by deficiency of GlcNAc-1-phosphotransferase, and clinical manifestations are multisystemic. Clinical and demographic data from 1983 to 2013 were obtained retrospectively. Twenty-seven patients were included (ML II = 15, ML III α/beta = 9, ML III gamma = 3). The median age at diagnosis was 2.7 years. The predominant clinical presentations were skeletal symptoms. The ML II patients showed physical and cognitive impairment, while the ML III α/beta patients have more somatic abnormalities and usually were delayed in early development as compared with ML III gamma patients. This is the most comprehensive study exploring characteristics of Brazilian patients with MLs II and III.

Anaesthesia-Relevant Disease Manifestations and Perianaesthetic Complications in Patients with Mucolipidosis—A Retrospective Analysis of 44 Anaesthetic Cases in 12 Patients

“…However, not only patients with cervical spine pathologies need special attention, but also those with lower vertebral column abnormalities, which are also common in ML. The frequency of MLII children with thoracolumbar gibbus abnormality in this study (57%) roughly equals the percentage reported by Alegra et al (50%) [29]. The literature contains a number of reports on children with MPS with neurological sequels after anaesthesia [10], such as an MPS IH patient with a 76 • thoracic kyphosis and irreversible paraplegia after extremity surgery [30].…”

Hip Morphology in Mucolipidosis Type II

“…Frequently described hip pathologies in MLII patients are dysplasia and dislocation, however, the current literature lacks exact pathological differentiation and classification [6,[23][24][25][26]. Ocada et al documented congenital dislocation of hip joints in 10/14 Japanese MLII patients without mentioning, how dislocation was diagnosed or whether both sides were affected [25].…”

A decade of molecular diagnosis of mucolipidosis II and III in Brazil: A pooled analysis of 32 patients

“…Twenty-six patients included in this study have already been described in the literature [5,[14][15][16][17][18]. Four patients are described herein for the first time (P29 to 32).…”

“…Compared to MLII, the disease progression is slower and life expectancy is longer. ML III gamma (MIM #252605) is caused only by pathogenic variants in the GNPTG gene and presents as the milder disease, with joints and bone symptoms and average life expectancy [1,4,5].…”