Objective To summarize the clinical features and genetic characteristics of mucolipidosis(ML)Ⅱ α/β by reporting a case of neonatal ML Ⅱ α/β and literature review.Methods The clinical data of a newborn with ML Ⅱ α/β admitted to the Department of Neonatology,Suzhou Hospital Affiliated to Nanjing Medical University were retrospectively analyzed.CNKI,Wanfang database,VIP Chinese Journal,the Chinese Medical Journal Full Text database,PubMed,Embase databases were searched using key words'(neonate OR newborn)AND(mucolipidosis)'both in English and Chinese,limiting papers published until December 2023.The clinical features and genetic characteristics of the reported neonates with ML Ⅱα/β were analyzed and summarized.Results A full-term small-for-gestational-age infant was admitted to our hospital due to shortness of breath after birth.Physical examination after birth revealed loose,dry,rough skin,hypertrophic gingiva,falling tongue,upturned nostril,and depressed chest.Laboratory tests found higher parathyroid hormone.The chest and abdominal X-ray and CT scan of the vertebral body showed multiple osteogenesis imperfecta.Cranial MRI showed bilateral ventricular fullness.Genetic testing revealed two compound heterozygous variations in the GNPTAB gene,c.88_89del(p.Thr30Hisfs*24)and c.1090C＞T(p.Arg364*).A total of 44 literatures involving 48 patients(including this case,10 Chinese patients and 38 foreign patients)with neonatal ML Ⅱα/β were retrieved,39 cases(81.3％)of ML Ⅱα/β had multiple skeletal deformities,32 cases(66.7％)of MLⅡα/β had craniofacial deformities on the first day of life,15 cases(31.3％)were complicated with cardiac malformations.Gene variations were recorded in 22 patients,including 13 homozygous variations and 9 compound heterozygous variations.The c.1090C＞T(p.R364X)variant was most common in Chinese patients,while c.3503_3504delTC variant was more common in European and American patients.Conclusions Neonates with special facial features and multiple skeletal malformations after birth should be suspected of ML.ML Ⅱα/β is caused by mutations in the GNPTAB gene and most patients with ML Ⅱα/β have homozygous or compound heterozygous mutations.
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