title: Subcutaneous fat pads on body MRI--an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a).
abstract: Infants with phosphomannomutase 2 - congenital disorder of glycosylation (PMM2-CDG), formerly known as CDG1a, present with failure to thrive, visceral dysfunction, thromboembolic events and developmental delays noted before 6 months of age. Diagnosis is often delayed due to the considerable variability in phenotype. Characteristic, but not universal, features include inverted nipples and abnormal subcutaneous fat pads. Neuroimaging performed in the first 4 months of life may be normal, although cerebellar and brainstem atrophy is usual after 3 months of age. Cerebellar and brainstem atrophy have been noted as early as 11 days of life. We present an infant whose typical subcutaneous and retroperitoneal fat deposits were clinically occult, but identified on body MRI.
authors.affiliation: Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.
authors.forename: Almundher A
authors.initials: AA
authors.lastname: Al-Maawali
authors.forename: Elka
authors.initials: E
authors.lastname: Miller
authors.forename: Andreas
authors.initials: A
authors.lastname: Schulze
authors.forename: Grace
authors.initials: G
authors.lastname: Yoon
authors.forename: Susan I
authors.initials: SI
authors.lastname: Blaser
mesh_terms: D000273:Adipose Tissue / Q000473:pathology*; D018981:Congenital Disorders of Glycosylation / Q000473:pathology*; D042241:Early Diagnosis; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D017875:Phosphotransferases (Phosphomutases) / Q000172:deficiency*; D050151:Subcutaneous Fat / Q000473:pathology*
chemical_list: D017875:Phosphotransferases (Phosphomutases)
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