NEONATAL ASCITES DUE TO LYSOSOMAL STORAGE DISEASE
NEONATAL ASCITES DUE TO LYSOSOMAL STORAGE DISEASE
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DOI：
10.1148/radiology.149.2.6414044
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发表时间：
1983-01-01
期刊：
影响因子：
19.7
通讯作者：
REILLY, BJ
中科院分区：
文献类型：
--
作者：
DANEMAN, A;STRINGER, D;REILLY, BJ
本文报告四例以腹水为主要临床表现的溶酶体贮积症（LSD）新生儿的临床和影像学特点。这些疾病包括婴儿戈谢病、GM I神经节苷脂沉积症、婴儿唾液酸沉积症和萨拉病。四名婴儿皆因腹水、肝脾肿大及肺发育不全而出现腹胀。在戈谢病的婴儿中，肋骨和长骨明显变薄。在所有患者中均观察到不同程度的骨小梁模式粗化和皮质变薄，以及缺乏建模。干骺端不规则见于唾液酸中毒和萨拉病患者。这些骨骼影像学检查结果可能提醒放射科医生注意这些患者腹水的原因，这是模糊的。在所有4例患者中，有一个兄弟姐妹由于相同的疾病而导致围产期死亡的病史;其中3个兄弟姐妹存在腹水。在这些兄弟姐妹的尸检中，诊断都被遗漏了，强调了缺乏对LSD作为新生儿腹水原因的认识。
The clinical and radiographic features of four newborns with lysosomal storage disease (LSD) in whom the dominant presenting clinical feature was ascites are presented. The diseases included infantile Gaucher disease, GM I gangliosidosis, infantile sialidosis, and Salla disease. Abdominal distention due to ascites and hepatosplenomegaly, and hypoplastic lungs were seen in all four infants. In the infant with Gaucher disease, the ribs and long bones were markedly thinned. Varying degrees of coarsening of the trabecular pattern of the bones and thinning of the cortex, and a lack of modeling were seen in all patients. Metaphyseal irregularity was noted in the patients with sialidosis and Salla disease. These skeletal radiographic findings may alert the radiologist to the cause for ascites in these patients, which is obscure. In all four patients, there was a history of perinatal death due to the same disease in a sibling; ascites was present in three of the siblings. The diagnosis was missed at autopsy in each of these siblings, underlining the lack of awareness of LSD as a cause for neonatal ascites.