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Family history revealed a sister who died at the age of 3\u2009months with a similar clinical syndrome and with pancytopenia. She was started on empirical intramuscular (IM) cobalamin supplements (injections of hydroxocobalamin 1\u2009mg\/day for 1\u2009week and then 1\u2009mg twice a week) and several transfusions of washed and concentrated red blood cells. With these treatments a clear improvement in symptoms was observed, with the disappearance of vomiting, diarrhea and normalization of the full blood count. At 8\u2009years of age injections were stopped for about two and a half months causing the appearance of pancytopenia. IM hydroxocobalamin was then restarted sine die. The definitive diagnosis could only be established at 29\u2009years of age when a genetic evaluation revealed the homozygous c.1115_1116delCA mutation of TCN2 gene (p.Q373GfsX38).\n                    <\/jats:p>\n                    <jats:p>Currently she is healthy and she is taking 1\u2009mg of IM hydroxocobalamin once a week.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Our case report highlights that early detection of TC deficiency and early initiation of aggressive IM treatment is likely associated with disease control and an overall favorable outcome.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13052-021-01007-6","type":"journal-article","created":{"date-parts":[[2021,3,8]],"date-time":"2021-03-08T08:04:21Z","timestamp":1615190661000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Long-term outcome of a patient with Transcobalamin deficiency caused by the homozygous c.1115_1116delCA mutation in TCN2 gene: a case report"],"prefix":"10.1186","volume":"47","author":[{"given":"Francesco","family":"Martino","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandra","family":"Magenta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Letizia","family":"Troccoli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eliana","family":"Martino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Concetta","family":"Torromeo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carolina","family":"Putotto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Barill\u00e0","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,3,8]]},"reference":[{"issue":"6","key":"1007_CR1","doi-asserted-by":"publisher","first-page":"345","DOI":"10.1038\/nrgastro.2012.76","volume":"9","author":"MJ Nielsen","year":"2012","unstructured":"Nielsen MJ, Rasmussen MR, Andersen CBF, Nex\u00f8 E, Moestrup SK. 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