TY - JOUR
T1 - Subcutaneous fat pads on body MRI - An early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a)
AU - Al-Maawali, Almundher A.
AU - Miller, Elka
AU - Schulze, Andreas
AU - Yoon, Grace
AU - Blaser, Susan I.
PY - 2014/2
Y1 - 2014/2
N2 - 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.
AB - 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.
KW - CDG1a
KW - Congenital disorder of glycosylation (PMM2-CDG)
KW - Congenital disorders of glycosylation
KW - Infant
KW - Jaeken syndrome
KW - Subcutaneous fat deposits
KW - phosphomannomutase 2
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U2 - 10.1007/s00247-013-2782-2
DO - 10.1007/s00247-013-2782-2
M3 - Article
C2 - 24037084
AN - SCOPUS:84894066260
SN - 0301-0449
VL - 44
SP - 222
EP - 225
JO - Pediatric Radiology
JF - Pediatric Radiology
IS - 2
ER -