PMC6356095_01
Pictures showing the patient's upper limbs (A) and lower limbs (B) at 6 yr of age.
Note the very limited amount of subcutaneous adipose tissue at the extremities and
pseudohypertrophy of the appendicular muscles.
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He had abdominal distension, pseudohypertrophy of the appendicular muscle, and a systemic decrease in subcutaneous adipose tissue (Fig. 1).
Axial T1-weighted magnetic resonance images taken at the umbilical level (A), hip
joint level (B), and thigh level (C). Fat typically appears at a high intensity in
images; however, the incidence of high intensity areas was reduced, particularly in
the subcutaneous area, suggesting that the amount of systemic subcutaneous adipose
tissue was markedly decreased.
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Magnetic resonance images revealed a significant decrease in his amounts of subcutaneous and intra-abdominal adipose tissue (Fig. 2).
The clinical course of this case. TG, triglycerides; HOMA-IR, homeostasis model
assessment-insulin resistance; BW, body weight. The gray bold line indicates the
normal body weight increase in Japanese boys.
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At 6 yr of age, we began a treatment with metreleptin at 0.02 mg/kg/day (Fig. 3). HOMA-IR value at fasting significantly increased to 1357 mg/dL and 6.32, respectively (Table 1C). He attempted additional diet therapy with strict nutritional support from family members, and his serum triglyceride level, HOMA-IR value, and SD score of body weight finally decreased to the same level as those before starting the metreleptin treatment (Fig. 3).