Sub-acute combined degeneration of the spinal cord as first presentation of coeliac disease in a Sudanese child.

Abstract

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.