ABSTRACT
Objective To observe the clinical characteristics of 2 patients with mucolipidosis type Ⅲ. Methods Two sibling patients (a sister and a brother) with mucolipidosis type Ⅲ symptoms and other family members were the research objects, and the changes of their features of hand bone imaging, blood indexes [blood glucose, cholesterol, triacylglycerol (TG), total protein (TP), albumin (Alb)] and body composition were analyzed. Results Except the 2 patients, the bone morphology, blood indexes and body compositions in other 7 family members were under normal conditions. The phalanx intervals of both hands in 2 patients with mucolipidosis type Ⅲwere widened significantly, among them the thumb manifestation was more obvious; the distal segments of phalanxes in both hands became pointed and curved presenting a "claw-like hand" deformity; the metacarpal and distal carpal metaphysis were obviously enlarged, and scaphoid, lunate, trianglar, orbicular, and trapezium and trapezoid bones were loosely arranged at the wrist; the distal ends of ulna and radius were markedly enlarged. Compared to healthy people, the triglyceride levels of serum in the 2 patients were obviously reduced (the percentage of reduction: 57.14% and 41.07% respectively); body mass indexes (BMI), total fat and visceral fat were significantly lowered (BMI reduction percentage:26.81% and 14.55%, total fat reduction percentage: 38.12% and 44.95%, visceral fat reduction percentage: 62.25% and 67.74%, respectively) in the two patients. Conclusion The purpose of studying the biochemistry indexes, imaging characteristics and body compositions is to more deeply understand the clinical symptoms and signs of the 2 sibling patients with mucolipidosis type Ⅲ in a family to provide a theoretical reference.