Rasool Ahsan, Power Claire Marie
Pediatric Neurodisability, Cork University Hospital Paediatrics Children's Services, Cork, Ireland
Cork University Hospital Paediatrics Children's Services, Cork, Cork, Ireland.
BMJ Case Rep. 2025 Feb 13;18(2):e262288. doi: 10.1136/bcr-2024-262288.
A toddler presented with a 6 week history of progressively worsening ataxia, weight loss and loose stool. There was no developmental regression, history of fever or foreign travel. Extensive investigation, including cerebrospinal fluid studies and neuroimaging, were inconclusive. In coeliac screen, the endomysial antibodies were positive with above tenfold elevation of IgA TTG from normal limit, making the diagnosis of coeliac disease (CD). The association of CD with neurological symptoms in our case led to the clinical impression of gluten ataxia. She was started on gluten free diet and had complete symptom resolution in over 4 weeks' time since the start of gluten-free diet. Although common in adults, it has not been reported in toddlers, expanding the differential diagnosis of ataxia.
一名幼儿出现进行性加重的共济失调、体重减轻和腹泻6周。无发育倒退、发热史或国外旅行史。包括脑脊液检查和神经影像学检查在内的广泛检查均无定论。在乳糜泻筛查中，肌内膜抗体呈阳性，IgA组织转谷氨酰胺酶较正常上限升高十倍以上，从而诊断为乳糜泻（CD）。我们病例中CD与神经症状的关联导致了麸质共济失调的临床印象。她开始接受无麸质饮食，并自开始无麸质饮食起4周多时间内症状完全缓解。虽然在成人中常见，但在幼儿中尚未见报道，这扩大了共济失调的鉴别诊断范围。
