{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:36:14Z","timestamp":1761708974792,"version":"3.44.0"},"reference-count":6,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2014,3,30]]},"abstract":"<jats:p>Congenital disorders of glycosylation (CDG) are a group of hereditary diseases characterised by deficiency of enzymes involved in proteins glycosylation. We describe the clinical case of a neonate with CDG type 1a, nowadays designated phosphomannomutase 2 (PMM2)-CDG. Physical examination showed an abnormal facies, axial hypotonia, abnormal fat distribution, inverted nipples, non-palpable testicles and arachnodactyly. Progressive multiple system organ involvement and worsening of hypertrophic cardiomyopathy occurred. Metabolic study revealed a CDG disturbance, which was confirmed by genetic study. The following mutations were identified: c.193G&gt;T; p.D65Y and c.470T&gt;C; p.F157S. Clinical deterioration was inevitable with multisystemic failure and death. CDG represents a challenge for physicians due to multiple organ involvement, and heterogeneous clinical manifestations. The neonatal form is usually associated with the worst prognosis.<\/jats:p>","DOI":"10.1136\/bcr-2013-010037","type":"journal-article","created":{"date-parts":[[2014,4,16]],"date-time":"2014-04-16T09:18:52Z","timestamp":1397639932000},"page":"bcr2013010037","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":12,"title":["Congenital disorders of glycosylation with neonatal presentation"],"prefix":"10.1136","volume":"2014","author":[{"given":"Catarina","family":"Resende","sequence":"first","affiliation":[{"name":"NICU, J\u00falio Dinis Maternity, Oporto Medical Center, Oporto, Portugal"}]},{"given":"Carmen","family":"Carvalho","sequence":"additional","affiliation":[{"name":"NICU, J\u00falio Dinis Maternity, Oporto Medical Center, Oporto, Portugal"}]},{"given":"Artur","family":"Alegria","sequence":"additional","affiliation":[{"name":"NICU, J\u00falio Dinis Maternity, Oporto Medical Center, Oporto, Portugal"}]},{"given":"Dulce","family":"Oliveira","sequence":"additional","affiliation":[{"name":"NICU, J\u00falio Dinis Maternity, Oporto Medical Center, Oporto, Portugal"}]},{"given":"Dulce","family":"Quelhas","sequence":"additional","affiliation":[{"name":"Genetic Center, Oporto, Portugal"}]},{"given":"Anabela","family":"Bandeira","sequence":"additional","affiliation":[{"name":"Pediatrics Department (Metabolic Diseases), Oporto Medical Center, Oporto, Portugal"}]},{"given":"Elisa","family":"Proen\u00e7a","sequence":"additional","affiliation":[{"name":"NICU, J\u00falio Dinis Maternity, Oporto Medical Center, Oporto, Portugal"}]}],"member":"239","published-online":{"date-parts":[[2014,4,16]]},"reference":[{"key":"2025082722373310000_2014.apr16_1.bcr2013010037.1","unstructured":"Sparks SE Krasnewich DM . PMM2-CDG (CDG-Ia) 2005 Aug 15 [Updated 2011 Apr 21]. In: Pagon RA Adam MP Bird TD ., eds. GeneReviews\u2122 [Internet]. Seattle, WA: University of Washington, Seattle; 1993\u20132013. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1110"},{"key":"2025082722373310000_2014.apr16_1.bcr2013010037.2","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1016\/j.bbadis.2009.01.003","article-title":"The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia)","volume":"1792","author":"Grunewald","year":"2009","journal-title":"Biochim Biophys Acta"},{"key":"2025082722373310000_2014.apr16_1.bcr2013010037.3","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-004-1611-x"},{"key":"2025082722373310000_2014.apr16_1.bcr2013010037.4","doi-asserted-by":"publisher","DOI":"10.1007\/BF01800221"},{"key":"2025082722373310000_2014.apr16_1.bcr2013010037.5","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.2006.00334.x"},{"key":"2025082722373310000_2014.apr16_1.bcr2013010037.6","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111.285502"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2013-010037","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T05:37:45Z","timestamp":1756359465000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2013-010037"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,4,16]]},"references-count":6,"alternative-id":["10.1136\/bcr-2013-010037"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2013-010037","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2014,4,16]]}}}