PMC9247158_01
Clinical manifestation of the patient with CED. (A, B) X-ray revealed thickening of skull and thickening of cortices in the diaphysis of both femur. (C) Bone scintigraphy revealed high uptake in skull and the diaphysis of upper and lower limbs. (D, E) X-ray revealed sparse bone trabeculae in thoracic and lumbar spine. (F) Sanger sequencing detected a mutation of c.652C>T (p. R218C) in the gene TGFB1 (NM_000660) in the patient, but neither in her parents nor her brother.
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Table 1 . The X-ray revealed ( Figure 1 ) thickening of the skull and thickening of cortices in the diaphysis but sparse bone trabeculae in the spine. Bone scintigraphy ( Figure 1C ) revealed high uptake of skull and diaphysis of long bones.
The timeline of treatment for the patient with CED. The patient was treated with prednisone, initiated at 30mg/day, decreased to 10 mg/day in 20 days, and then adjusted between 5 and 15 mg/day. Losartan 50 mg/day was given to the patient together with prednisone. Vitamin D2 of 200,000 IU intramuscular injection was given once, continued with calcium carbonate of 500 mg tid and vitamin D3 1200 IU qd. During the follow-up for 28 months, the BMD in L1-L4 in the patient significantly increased. Bone age increased from 11-12 years to 14-16 years, and Tanner stage of pubic hair and breast of the patient increased from stage 1 to 3 and from stage 1 to 4, which indicated that puberty was initiated and developed.
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Table 1  and  Figure 2 ). The dose of prednisone was then adjusted between 5 and 15 mg/day during the 28-months follow-up.