{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T06:46:28Z","timestamp":1768373188986,"version":"3.49.0"},"reference-count":25,"publisher":"Georg Thieme Verlag KG","issue":"02","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Klin Padiatr"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Vitamin B12 begins to accumulate in infants within the first six months while\n                    mothers often remain asymptomatic and infantile vitamin B12 deficiency may not\n                    be noticed until the onset of neurological effects. In infants with Cbl\n                    deficiency, long-term exposure to elevated methylmalonic acid and homocysteine\n                    (MMA-HC) may have toxic effects on the central nervous system. The aim of this\n                    study was to evaluate cranial magnetic resonance (MRI) findings of 23 hypotonic\n                    infants that were followed up with a diagnosis of nutritional Cbl deficiency and\n                    combined MMA-HC. Of the 78 infants that presented with hypotonicity, 23\n                    (29.4%) infants were detected with vitamin B12 deficiency. Elevated\n                    MMA-HC levels were detected in all patients (100%). Cranial MRI showed\n                    cortical atrophy in 6 (26.0%)-large sylvian fissures in 7\n                    (30.4%)-ventricular dilatation in 5 (21.7%)-corpuscallosal\n                    thinning in 6 (26.0%)-delayed myelination in 3 (13%), and normal\n                    in 8 (34.7%) infants.Infants detected with corpus callosal thinning and\n                    cortical atrophy on MRI. Vitamin B12 deficiency is a treatable condition, it\n                    should be suspected in infants presenting with hypotonicity. Neuroradiological\n                    findings should be considered in the diagnosis of such patients.\n                    \u0130nfantile nutritional vitamin B12 deficiency, which can be a source of\n                    persistent neurological deficits during the long term, should be treated to\n                    allow the patient to allow healthy neuro-development for infants. Maternal and\n                    fetal vitamin B12 levels should be assessed during the third trimester of\n                    pregnancy to prevent long-term exposure to infantile vitamin B12 deficiency.<\/jats:p>","DOI":"10.1055\/a-1749-6008","type":"journal-article","created":{"date-parts":[[2022,2,25]],"date-time":"2022-02-25T01:37:05Z","timestamp":1645753025000},"page":"105-112","source":"Crossref","is-referenced-by-count":4,"title":["Cranial Magnetic Resonance Imaging Findings in Hypotonic Infants with\n                    Cobalamin Deficiency and Combined Methylmalonic Aciduria and\n                    Homocystinuria"],"prefix":"10.1055","volume":"234","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7633-0060","authenticated-orcid":false,"given":"Beril","family":"Dilber","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Karadeniz Technical University Faculty of\n                    Medicine, Trabzon, Turkey"},{"name":"Radiology, Karadeniz Technical University Faculty of Medicine, Trabzon,\n                    Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u0130lker","family":"Ey\u00fcbo\u011flu","sequence":"additional","affiliation":[{"name":"Radiology, Karadeniz Technical University Faculty of Medicine, Trabzon,\n                    Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2022,2,24]]},"reference":[{"key":"ref1","first-page":"465","article-title":"Congenitaldefect in intracellular cobalamin metabolism resulting in\n                    homocystinuria and methylmalonic aciduria","volume":"34","author":"E R Baumgartner","year":"1979","journal-title":"Helv Paediat Acta"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1055\/s-2001-12217","article-title":"Cobalamin (Cbl) C\/D deficiency: clinical, neurophysiological and\n                    neuroradiological findings in 14 cases","volume":"32","author":"R Biancheri","year":"2001","journal-title":"Neuropediatrics"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1097\/01.PCC.0000167565.30084.84","article-title":"Coma and respiratory failure in a child with severe vitamin B 12 deficiency","volume":"6","author":"D Codazzi","year":"2005","journal-title":"Pediatr Crit Care Med"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1007\/s12098-017-2598-4","article-title":"Association between Maternal and Infantile Markers of Cobalamin Status During\n                    the First Month Post-Delivery","volume":"85","author":"S \u00c7oban","year":"2018","journal-title":"Indian J Pediatr"},{"key":"ref5","first-page":"536","article-title":"MR and proton MR spectroscopy of the brain in hyperhomocysteinemia caused by\n                    methylentetrahydrofolate reductase deficiency","volume":"18","author":"V Engelbrecht","year":"1997","journal-title":"AJNR"},{"key":"ref6","first-page":"367","article-title":"The pathogenesis and hemodynamics of hydrocephalus","volume":"3","author":"D Greitz","year":"1997","journal-title":"Int J Neuroradiol"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1097\/00005792-199107000-00001","article-title":"Neurologic aspects of cobalamin deficieny","volume":"70","author":"E B Healton","year":"1995","journal-title":"Medicine (Baltimore)"},{"key":"ref8","first-page":"17","article-title":"Neurologic findings of nutritional vitamin B12 deficiency in children","volume":"52","author":"F Incecik","year":"2010","journal-title":"Turk J Pediatr"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1097\/01.mph.0000212958.89091.c0","article-title":"Nutritional megaloblastic anemia in young Turkish children is associated with\n                    vitamin B-12 deficiency and psychomotor retardation","volume":"28","author":"S Katar","year":"2006","journal-title":"J Pediatr Hematol Oncol"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1007\/s00394-006-0598-7","article-title":"High frequency of maternal vitamin B12 deficiency as an importantcause of\n                    infantile vitamin B12 deficiency in Sanliurfa province of Turkey","volume":"45","author":"A Koc","year":"2006","journal-title":"Eur J Nutr"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"417\u2013424","DOI":"10.1111\/j.1651-2227.1968.tb07314.x","article-title":"Methylmalonicacidemia \u2013 A disorder associated with acidosis\n                    hyperglycinemia and hyperlactatemia","volume":"57","author":"B Lindblad","year":"1968","journal-title":"Acta Paediatr. 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Children with Nutritional Vitamin B12\n                    Deficiency","volume":"26","author":"F Ekici","year":"2016","journal-title":"Clin Neuroradiol"}],"container-title":["Klinische P\u00e4diatrie"],"original-title":[],"language":"de","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-1749-6008.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,3,8]],"date-time":"2022-03-08T00:46:44Z","timestamp":1646700404000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-1749-6008"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2,24]]},"references-count":25,"journal-issue":{"issue":"02","published-online":{"date-parts":[[2022,3,7]]},"published-print":{"date-parts":[[2022,3]]}},"URL":"https:\/\/doi.org\/10.1055\/a-1749-6008","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0300-8630","1439-3824"],"issn-type":[{"value":"0300-8630","type":"print"},{"value":"1439-3824","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,2,24]]}}}