ESPE Abstracts

Objective: To recognize Schimke immune-osseous dysplasia from a case of spinal epiphyseal dysplasia.

Method: Summarize the characteristics of one case of Schimke immune-ossesous dysplasia, and increase awareness of this disease.

Result: The patient, male, with non-consanguineous parents, was born on May 8, 2012. He was hospitalized in our hospital in January 2020 due to his short stature for more than 7 years. At the age of 4, the number of cafe-au-lait spots in the body gradually increased and the patient was hospitalized in the local hospital. The gene testing result of the patient showed that Smarcal1 had compound heterozygous mutations: (1) exon 12, c.1930c > t, P. (arg644trp), (from father) was a suspected heterozygous mutation; (2) exon 8, c.1444delc, P. (leu482fs), (from mother) was a heterozygous mutation. Past history: He was born prematurely at 33 gestational weeks with a birth weight of 1.3KG (< P3) and a body length of 39cm (< P3). Physical examination: body length 95.1cm (＜ 3SD), weight 19kg (＜ 3SD), BMI 21kg/m² (+ 2.2SD), head circumference 49cm, upper part length of the body 48CM, finger distance 100.5cm. The nose bridge collapses. The neck is short. Disproportionate short stature with the short spine. Hyperpig-mented macules predominantly on the trunk. The abdomen is slightly swollen with the abdominal circumference 61cm. Lab examination: Lymphocyte count decreased and CD4-positive cells decreased.24-hour urine protein content was 2.29g.CHOL 6.98 mmol/l，Alb29.4g/l.Thyroid function was normal.MRI + MRA of the brain were normal. Karyotype was 46, XY.The bone age is 6 years old (G & P method). Metacarpal bone is generally shorter. The anterior and lateral films of the spine show that the upper front edges of the vertebral body are stunted, and the upper and lower edges are swollen.The epiphysis of both femoral diaphysis was irregular, the acetabulum fossa of pelvis became shallow, sclerotic and dysplastic.

Conclusion: Our child is a mild SIOD. He has been followed up ever since birth, and he has no kidney involvement and recurrent infections except for his uneven shortness. In the most recent examination (7 years and 8 months), a large amount of proteinuria was found, but albumin still had 29.4g/l. In addition to spinal metaphyseal dysplasia, hip dysplasia is associated with dislocation which is a little bit different from the cases that had reported.