Early diagnostic clues of mucolipidosis type II: Significance of radiological findings

Abstract Mucolipidosis type‐II (ML‐II) is an ultra‐rare disorder caused by deficiency of N‐acetylglucosaminyl‐1‐phosphotransferase enzyme due to biallelic pathogenic variants in GNPTAB gene. There are a few known about the natural history of ML‐II. In this study, we presented the natural course of 24 patients diagnosed with ML‐II. Mean age at diagnosis was 9.3 ± 5.7 months. All patients had coarse face, developmental delay, and hypotonia. The mean survival time was 3.01 ± 1.4 years. The oldest patient was 6.5 years old. Twelve patients died due to lung infection and respiratory failure. We observed early and significant radiological findings of ML‐II were different from typical dysostosis multiplex such as femoral cloaking, rickets‐like changes, and talocalcaneal stippling. These are significant findings observed in the fetal or newborn period which is considered to be highly characteristic of ML‐II and disappears in the first year. Cloaking, rickets‐like changes, and stippling were not observed in patients older than three months of age and this suggests that these findings disappear within the first year. These radiological features can be used as important clues for diagnosis. We detected eight different pathogenic variants in GNPTAB gene, three of them were novel.