title: Congenital disorders of glycosylation with neonatal presentation.
abstract: 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>T; p.D65Y and c.470T>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.
authors.affiliation: NICU, Júlio Dinis Maternity, Oporto Medical Center, Oporto, Portugal.
authors.forename: Catarina
authors.initials: C
authors.lastname: Resende
authors.forename: Carmen
authors.initials: C
authors.lastname: Carvalho
authors.forename: Artur
authors.initials: A
authors.lastname: Alegria
authors.forename: Dulce
authors.initials: D
authors.lastname: Oliveira
authors.forename: Dulce
authors.initials: D
authors.lastname: Quelhas
authors.forename: Anabela
authors.initials: A
authors.lastname: Bandeira
authors.forename: Elisa
authors.initials: E
authors.lastname: Proença
mesh_terms: D002312:Cardiomyopathy, Hypertrophic / Q000000981:diagnostic imaging* / Q000209:etiology; D002531:Cerebellum / Q000002:abnormalities*; D018981:Congenital Disorders of Glycosylation / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D002658:Developmental Disabilities / Q000175:diagnosis / Q000209:etiology; D004452:Echocardiography; D006801:Humans; D007231:Infant, Newborn; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D009154:Mutation; D009421:Nervous System Malformations / Q000175:diagnosis* / Q000209:etiology; D017875:Phosphotransferases (Phosphomutases) / Q000172:deficiency* / Q000235:genetics
chemical_list: D017875:Phosphotransferases (Phosphomutases); C519582:phosphomannomutase 2, human
references.citation: Ann Hum Genet. 2007 May;71(Pt 3):348-53
references.pmid: 17166182
references.citation: Biochim Biophys Acta. 2009 Sep;1792(9):827-34
references.pmid: 19272306
references.citation: J Biol Chem. 2011 Nov 11;286(45):39431-8
references.pmid: 21949237
references.citation: Eur J Pediatr. 2005 Apr;164(4):223-6
references.pmid: 15645285
references.citation: J Inherit Metab Dis. 1992;15(6):857-61
references.pmid: 1293380