儿童脊髓亚急性联合变性伴自身免疫性疾病1例

Subacute combined degeneration of spinal cord with autoimmune disease in children:a case report

脊髓亚急性联合变性(SCD)的临床表现复杂多样。由于部分SCD患者由自身免疫性疾病引起,误诊漏诊率较高。回顾性分析1例13岁女性患者,具有严重贫血(维生素B12缺乏引起)、单侧多关节肿痛、双下肢瘫痪、多腺体受累及多种自身抗体阳性,家系全外显子测序未见致病性变异,诊断为SCD伴自身免疫性疾病(自身免疫性多腺体综合征及未分化型结缔组织疾病),经过免疫治疗(皮质激素冲击、免疫球蛋白等)、补充维生素B12及甲状腺片、输血及康复治疗后,病情逐渐缓解。SCD伴自身免疫性疾病在儿童少见,且临床表现差异较大,早识别、早治疗可改善预后。

The clinical manifestations of subacute combined degeneration of spinal cord(SCD)in children are complex and vary greatly.Due to the fact that some patients with SCD may be complicated with autoimmune diseases,the high early misdiagnosis and missed diagnosis rates are observed.One case of 13-year old female with severe anemia,multiple joint swelling and pain in left limbs and paralysis of bilateral lower limbs with the extremely low level of serum vitamin B12 and poly-glandular involvement as well as a variety of positive auto-antibodies(anti-intrinsic factor antibody,anti-parietal cell antibody,thyroid peroxidase antibody,thyroid globulin antibody and perinuclear anti-neutrophil cytoplasmic antibody)was retrospectively analyzed.The patient was diagnosed as SCD with autoimmune disease(undifferentiated connective tissue disease and autoimmune polyglandular syndrome).The patient′s condition gradually alleviated after high-dose intravenous methylprednisolone,immunoglobulin,naproxen(then changed to hydroxychloroquine 1 month later),vitamin B12 and levothyroxine sodium tablets supplementation,blood transfusion and rehabilitation.SCD with autoimmune diseases is rare in children,and the clinical manifestations vary greatly.Early recognition and early treatment can improve the prognosis of SCD.The clinical data of this child were retrospectively analyzed,so as to improve the understanding of the disease by clinicians.