Suliman Omer S M
Paediatric Department, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
Sudan J Paediatr. 2023;23(1):98-103. doi: 10.24911/SJP.106-1639730602.
The prevalence of coeliac disease (CD) is rapidly rising in both developed and underdeveloped countries. CD classically presents with gastrointestinal manifestations, but it is now increasingly considered as a multisystem disease mostly affecting the central nervous system. Recently, a non-biopsy approach for the diagnosis of CD has been recommended by the European Society for paediatric gastroentrology, hepatology and nutrition. Here, we are reporting a 12-year-old Sudanese boy who presented with chronic diarrhoea and weight loss and lower limbs weakness. His examinations showed emaciation, pallor and weakness of both lower limbs and mixed upper and lower motor neuron signs and peripheral neuropathy, suggestive of sub-acute combined degeneration of the spinal cord (SACDSC). His initial investigations showed microcytic hypochromic anaemia with hypokalaemia and hypocalcaemia and very high titer of the IgA class of tissue transglutaminase (28× upper limit normal ) with a positive anti-endomeseal IgA antibodies. He was diagnosed with acute coeliac crisis with SACDSC, most likely due to Vitamin B12 deficiency. Although his initial cobalamine level was normal, he later developed macrocytosis and his neurological signs improved rapidly with injectable B12. We reported a rare neurological presentation of CD and we highlighted the non-biopsy approach for the diagnosis of CD in children.
乳糜泻(CD)在发达国家和不发达国家的患病率都在迅速上升。CD 经典的表现为胃肠道症状,但现在越来越被认为是一种多系统疾病,主要影响中枢神经系统。最近,欧洲儿科胃肠病学、肝病学和营养学会推荐了一种非活检方法来诊断 CD。在此,我们报告一名 12 岁的苏丹男孩,他出现慢性腹泻、体重减轻和下肢无力。他的检查显示消瘦、面色苍白以及双下肢无力,伴有上下运动神经元混合体征和周围神经病变,提示脊髓亚急性联合变性(SACDSC)。他的初步检查显示小细胞低色素性贫血伴低钾血症和低钙血症,以及 IgA 类组织转谷氨酰胺酶滴度极高(是正常上限的 28 倍),抗内因子 IgA 抗体呈阳性。他被诊断为伴有 SACDSC 的急性乳糜泻危机,最可能是由于维生素 B12 缺乏。尽管他最初的钴胺素水平正常,但后来出现了大细胞性贫血,并且他的神经体征通过注射维生素 B12 迅速改善。我们报告了 CD 一种罕见的神经表现,并强调了儿童 CD 诊断的非活检方法。