Pekpak Şahinoğlu Esra, Oren Ayse Ceyda, Şahinoğlu Bahtiyar, Keskin Özlem, Damar Çağrı, Akbayram Sinan
Pediatric Hematology and Oncology, Liv Hospital, Gaziantep, Turkey.
Medical Genetics, Gaziantep City Hospital, Gaziantep, Turkey.
Eur J Pediatr. 2025 Jan 24;184(2):152. doi: 10.1007/s00431-025-05982-4.
Spondyloenchondrodysplasia (SPENCD) is a rare genetic disorder characterized with skeletal dysplasia, immune dysregulation, and neurological impairment. Patients diagnosed with SPENCD at a single pediatric hematology center were included in the study. The patients' clinical characteristics, symptoms at presentation, imaging and laboratory results, and genetic analysis results were collected retrospectively from their files. This study evaluated nine patients diagnosed with SPENCD, eight of whom had autoimmune manifestations at presentation. Common findings included autoimmune hemolytic anemia, hypothyroidism, and elevated transaminase levels. All patients exhibited short stature and skeletal abnormalities. Neurological symptoms were present in six patients, with intracranial calcifications detected in five. Recurrent bacterial and viral infections, including respiratory tract infections, were prevalent. The NM_001611.5 (ACP5): c.772_790del p.(Ser258TrpfsTer39) frameshift variant was identified in all patients. Two patients died during follow-up.
The study highlights the clinical characteristics and challenges associated with SPENCD. The findings underscore the need for comprehensive management strategies to address the multifaceted complications associated with SPENCD.
• Spondyloenchondrodysplasia (SPENCD) is classified as a type-1 interferonopathy resulting from homozygous mutations in the ACP5 gene, which leads to a deficiency in tartrate-resistant acid phosphatase. • The clinical features associated with this condition encompass skeletal dysplasia, spastic paraparesis, short stature, thrombocytopenia, hemolytic anemia, and systemic lupus erythematosus like autoimmune manifestations. Additionally, patients may experience intracranial calcifications and recurrent infections.
• SPENCD exhibits similarities with other type I interferonopathies, including increased levels of type I interferon and specific neurological symptoms; however, it also displays distinct characteristics such as intellectual disability and behaviors associated with autism spectrum disorder. • Despite the rare occurence of the condition and the small number of patients reported here the findings underscore the complexity of managing this condition, particularly in the context of consanguinity and the associated risks of severe complications and mortality.
脊椎骨骺发育不良（SPENCD）是一种罕见的遗传性疾病，其特征为骨骼发育异常、免疫调节紊乱和神经功能障碍。本研究纳入了在一家儿科血液学中心被诊断为SPENCD的患者。回顾性收集了患者的临床特征、就诊时的症状、影像学和实验室检查结果以及基因分析结果。本研究评估了9例被诊断为SPENCD的患者，其中8例在就诊时有自身免疫表现。常见表现包括自身免疫性溶血性贫血、甲状腺功能减退和转氨酶水平升高。所有患者均有身材矮小和骨骼异常。6例患者有神经症状，5例检测到颅内钙化。反复发生的细菌和病毒感染很常见，包括呼吸道感染。所有患者均检测到NM_001611.5（ACP5）：c.772_790del p.(Ser258TrpfsTer39) 移码变异。2例患者在随访期间死亡。
本研究突出了与SPENCD相关的临床特征和挑战。研究结果强调需要采取综合管理策略来应对与SPENCD相关的多方面并发症。
• 脊椎骨骺发育不良（SPENCD）被归类为一种1型干扰素病，由ACP5基因的纯合突变导致抗酒石酸酸性磷酸酶缺乏引起。• 与这种疾病相关的临床特征包括骨骼发育异常、痉挛性截瘫、身材矮小、血小板减少、溶血性贫血以及系统性红斑狼疮样自身免疫表现。此外，患者可能会出现颅内钙化和反复感染。
• SPENCD与其他1型干扰素病有相似之处，包括1型干扰素水平升高和特定的神经症状；然而，它也表现出独特的特征，如智力残疾和与自闭症谱系障碍相关的行为。• 尽管这种疾病罕见且本文报道的患者数量较少，但研究结果强调了管理这种疾病的复杂性，特别是在近亲结婚的情况下以及严重并发症和死亡的相关风险。
