Background: Spondyloenchondrodysplasia (SPENCD) is a rare skeletal dysplasia characterized by metaphyseal enchondroma-like bone lesions and dysplasia of the vertebrae. SPENCD with immune dysregulation (SPENCDI) describes the syndrome of combined immunodeficiency, autoimmunity and spondyloenchondrodysplasia caused by the mutations in the ACP5 gene on chromosome 19. Patients with SPENCDI and neurological manifestations including spasticity, developmental delay and cerebral calcifications have been reported. We present here two siblings born to consanguineous parents with genetically proven SPENCDI.
Case presentations: 7 years 2 months old boy and his 9 yrs old sister were evaluated for short stature. On physical examination the brother had a round face, short neck, lumber lordosis and pes planus. Height was 100 cm (−4.43 SDS) with risomelia (arm span/height ratio: 0.97). He was diagnosed with autoimmune hemolytic anemia (AIHA) at the age of three months. He received glucocorticoid treatment for two months and required no further treatment thereafter. The sisters height was 113 cm (−3.29 SDS). She was diagnosed with AIHA at the age of 2.5 years and she was receiving methyl prednisolone ever since. Physical examination was normal except short stature and Cushingoid appearance of the face. Both patients were prepubertal. Both patients had AIHA, short stature, metaphyseal changes and platyspondyly compatible with SPENCD. The sisters AIHA was difficult to manage and required splenectomy. At the age of 8 years 4/12 the brother developed systemic lupus erythemasosus which was managed with steroids and immune suppressors. Both patients were of normal intellect and neither had intracranial calcification. Both patients and their parents had mutations in the ACP5 gene.
Conclusion: This rare skeletal dysplasia should be considered in patients with short stature and autoimmune disorders. SPENCDI should be included in the differential diagnosis of other skeletal dysplasias with immune involvement, such as Schimke type immuno-osseous dysplasia and cartilage hair hypoplasia.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology