{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T00:54:22Z","timestamp":1771548862493,"version":"3.50.1"},"reference-count":9,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,1,18]],"date-time":"2021-01-18T00:00:00Z","timestamp":1610928000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2021,1,18]],"date-time":"2021-01-18T00:00:00Z","timestamp":1610928000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Pediatr"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Imerslund-Gr\u00e4sbeck syndrome is a rare genetic disease characterised by vitamin B<jats:sub>12<\/jats:sub>deficiency and proteinuria.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case presentation<\/jats:title><jats:p>A 4-year old Sri Lankan boy presented with gradually worsening difficulty in walking for two weeks duration. He was previously diagnosed and managed as having non-transfusion-dependent \u03b1-thalassaemia based on the presence of hypochromic microcytic anaemia, haemoglobin H inclusion bodies in the blood film and compound heterozygous \u03b1-thalassaemia genotype with a gene deletion. However, his transfusion requirement increased over the past three months and he gradually lost his motor developmental milestones during two weeks before admission. The neurological examination revealed generalised hypotonia, exaggerated knee jerks and extensor plantar response. His complete blood count showed pancytopenia, and bone marrow biopsy revealed megaloblastic changes. Serum vitamin B<jats:sub>12<\/jats:sub>and red blood cell folate levels were low. MRI revealed sub-acute combined degeneration of the spinal cord with characteristic \u2018inverted V sign\u2019. Urine analysis showed non-nephrotic range proteinuria. The diagnosis of Imerslund-Gr\u00e4sbeck syndrome was made due to the presence of non-nutritional vitamin B<jats:sub>12<\/jats:sub>deficiency and asymptomatic proteinuria. He showed a rapid haematological and neurological improvement to intramuscular hydroxocobalamin.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This case report presents a rare occurrence of severe vitamin B<jats:sub>12<\/jats:sub>deficiency due to Imerslund-Gr\u00e4sbeck syndrome masked by co-existent \u03b1-thalassaemia, resulting in serious consequences. It highlights the need for a high index of suspicion in evaluating children with severe anaemia, especially in the presence of mixed pathologies.<\/jats:p><\/jats:sec>","DOI":"10.1186\/s12887-021-02499-1","type":"journal-article","created":{"date-parts":[[2021,1,18]],"date-time":"2021-01-18T05:02:42Z","timestamp":1610946162000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A child with Imerslund-Gr\u00e4sbeck syndrome concealed by co\u2010existing \u03b1-thalassaemia presenting with subacute combined degeneration of the spinal cord: a case report"],"prefix":"10.1186","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7705-0394","authenticated-orcid":false,"given":"Visvalingam","family":"Arunath","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8665-3576","authenticated-orcid":false,"given":"Thabitha Jebaseeli","family":"Hoole","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1438-1927","authenticated-orcid":false,"given":"Asanka","family":"Rathnasri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oshanie","family":"Muthukumarana","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ishara Minuri","family":"Kumarasiri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nishadi Dananjani","family":"Liyanage","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasintha","family":"Costa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0760-0418","authenticated-orcid":false,"given":"Sachith","family":"Mettananda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,1,18]]},"reference":[{"key":"2499_CR1","doi-asserted-by":"crossref","unstructured":"Gr\u00e4sbeck R. Imerslund-Gr\u00e4sbeck syndrome (selective vitamin B12 malabsorption with proteinuria). Orphanet journal of rare diseases. 2006 2006\/05\/19;1(1):17.","DOI":"10.1186\/1750-1172-1-17"},{"issue":"4","key":"2499_CR2","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1002\/humu.20014","volume":"23","author":"SM Tanner","year":"2004","unstructured":"Tanner SM, Li Z, Bisson R, et al. Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East. Hum Mutat. 2004;23(4):327\u201333.","journal-title":"Hum Mutat"},{"issue":"2","key":"2499_CR3","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1056\/NEJMcp1113996","volume":"368","author":"SP Stabler","year":"2013","unstructured":"Stabler SP. Vitamin B12 Deficiency. 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Reversible hyperpigmentation of skin and nails with white hair due to vitamin B12 deficiency. Archives of dermatology. 1986;122(8):896\u20139.","journal-title":"Archives of dermatology."},{"issue":"1","key":"2499_CR9","doi-asserted-by":"publisher","first-page":"101","DOI":"10.7241\/ourd.20131.23","volume":"4","author":"RY Bhat","year":"2013","unstructured":"Bhat RY, Varma CP. Reversible hypopigmentation of hair secondary to Vitamin B12 deficiency. 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A copy of the written consent is available for review by the Editor-in-Chief of this journal.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"41"}}