Subcutaneous fat pads on body MRI - an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a)
Subcutaneous fat pads on body MRI - an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a)
复制标题
DOI：
10.1007/s00247-013-2782-2
复制
发表时间：
2014-02-01
影响因子：
2.3
通讯作者：
Blaser, Susan I.
中科院分区：
文献类型：
--
作者：
Al-Maawali, Almundher A.;Miller, Elka;Blaser, Susan I.
患有磷酸甘露糖变位酶2 -先天性糖基化障碍（PMM 2-CDG）（以前称为CDG 1a）的婴儿在6个月龄前出现发育不良、内脏功能障碍、血栓栓塞事件和发育迟缓。由于表型的显著变异性，诊断常常被延迟。特征性的，但不是普遍的，特征包括乳头内陷和异常的皮下脂肪垫。在出生后的前4个月进行的神经影像学检查可能是正常的，尽管小脑和脑干萎缩在3个月后是常见的。小脑和脑干萎缩早在出生后11天就已发现。我们提出一个婴儿，其典型的皮下和腹膜后脂肪沉积临床隐匿，但确定了身体磁共振成像。
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.