A Case Report Of Mucolipidosis ? ?/? And Literature Review

Objective: To improve the clinical understanding of mucolipidosis ? ?/? by reporting a case of mucolipidosis ? ?/? and literature review.Methods: Collect one case of mucolipidosis ? ?/?,analyze the clinincal manifestations and test results,and review the relevant literature.Results: A thirteen-year-old boy was hospitalized for limitation of multiple joints movement and growth backwardness for more than eight years.Delivery history and past history were normal.There was no similar family history.Physical examination: height: 139.5cm(<3rd,-2.57SDS).He responded appropriately and had coarse face.His throax deformed with sternal protrusion.He has regular heart rhythm and there was no heart murmur.Abdomen was soft.Liver and spleen were impalpable.He has claw hands with stiffness of multiple joints.The major accessory examination: Liver and kidney functions?electrolytes?myocardial enzyme and erythrocyte sedimentation rate were normal.Human leukocyte antigen(HLA-B27): negative;Anti-cyclic citrullinated peptide antibodies<0.5U/mL;Rheumatism Set: anti-nuclear antibody: 1:100,the rest were negative;Typical imaging features: Sternum: clavicle is short and thick,and ribbon ribs are atypical.Bilateral orthotopic radiographs of the hip joint: acetabular cup appears slightly shallow with dysplasia of ilium.Lateral radiographs of the whole spine: the physiological curvature of cervical spine becomes straight with beak malformation of vertebral anterior edge.X-ray of left wrist joint: the terminal phalanx becomes sharp with delay of ossification center and dysplasia of ulnar and radial bone epiphyses.Thoracolubar MRI: abnormal thoracolumbar vertebral body morphology,narrow intervertebral spaces and lip-shaped anterior protrusion in the front of lumbar vertebra;changes above were mostly manifestations of mucopolysaccharide diseases;intervertebral disc lesion of L1/L2 with disc herniation,complicated by schmorl snode,and disc herniation of L5/S1.Urinary methyl aniline blue test(qualitative): negeative;Imethyl methylene blue test(quantitative): 4.15mg/mmol.?-mannosidase: 469.71nmol/h.ml.Full exon detection: Two heterozygous mutations of GNPTAB gene were found in this sample,and they are c.3428 dupA and c.2715 + 1G ? A.This gene was a compound heterozygous mutation and these variants was pathogenic.No special treatment was given.Conclusion: Mucolipidosis ? ?/? is an autosomal recessive genetic disease caused by GNPTAB gene mutations.The clinical manifestations of mucolipidosis ? ?/? are complex and diverse.The main clinical manifestations are coarse face,stiffness of multi-joints,short stature,and normal to mildly impaired cognitive development etc.Typical clinical manifestations?laboratory enzymology?special imaging features and genetic testing can confirm the diagnosis of mucolipidosis ? ?/?.There is no effective treatment for mucolipidosis ? ?/? at present.Suggest a gravida to prenatal diagnosis if one of her family members has mucolipidosis ? ?/? or suspected of mucolipidosis ? ?/?.It can reduce mucolipidosis ? ?/? in children with birth rates.