Al-Kateb Faten, Dyab Duaa, Almadani Basher, Al-Enezi Nora
Pediatrics, King Fahad Medical City, Riyadh, SAU.
Pediatrics, Alfaisal University College of Medicine, Riyadh, SAU.
Cureus. 2024 May 14;16(5):e60314. doi: 10.7759/cureus.60314. eCollection 2024 May.
Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is a rare autosomal recessive genetic disorder caused by a homozygous mutation of the ACP5 gene. Spondyloenchondrodysplasia is a type of immune-osseous dysplasia manifesting with skeletal dysplasia, immunologic dysfunction, and neurological manifestations. We report the case of a six-year-old boy with SPENCDI who presented with post-viral illness Coombs-positive hemolytic anemia, thrombocytopenia, and fever, based on which he was diagnosed with Evans syndrome. He was previously diagnosed with spastic diplegia, short stature, and celiac disease. The diagnosis was confirmed with genetic testing which displayed a homozygous frameshift mutation of the ACP5 gene c.549del p.(Gln184Serfs*28). This case report discusses the clinical presentation of SPENCDI and highlights the importance of considering this rare genetic disorder in patients presenting with short stature, immunologic dysregulation, and neurological involvement.
伴有免疫失调的脊椎骨骺发育不良（SPENCDI）是一种罕见的常染色体隐性遗传病，由ACP5基因的纯合突变引起。脊椎骨骺发育不良是一种免疫性骨发育不良，表现为骨骼发育异常、免疫功能障碍和神经学表现。我们报告了一例6岁患有SPENCDI的男孩，他在病毒感染后出现库姆斯试验阳性的溶血性贫血、血小板减少和发热，据此诊断为伊文斯综合征。他之前被诊断为痉挛性双侧瘫、身材矮小和乳糜泻。基因检测证实了诊断，检测显示ACP5基因c.549del p.(Gln184Serfs*28)存在纯合移码突变。本病例报告讨论了SPENCDI的临床表现，并强调了对于出现身材矮小、免疫失调和神经受累的患者考虑这种罕见遗传病的重要性。
