Foladi Naqibullah, Aien Mohammad Tahir
Department of Radiology, French Medical Institute for Mothers and Children (FMIC), 3rd district, Kabul, Afghanistan.
Department of Radiology, Kabul University of Medical Sciences (KUMS), Kabul, Afghanistan.
Radiol Case Rep. 2021 Aug 1;16(10):2857-2861. doi: 10.1016/j.radcr.2021.06.084. eCollection 2021 Oct.
Wolman disease is a lethal rare autosomal recessive disorder defined by the deficiency of acid lipase enzyme. The disease is a lysosomal storage disease. Multiple organs such as adrenal glands, liver, spleen, bone marrow, small bowel loops, and abdominal lymph nodes are infiltrated by the deposition of lipids. Infants generally present with failure to thrive, abdominal distention, vomiting, steatorrhea, and hepatosplenomegaly. Authors' present a 1 month-old male infant with abdominal distention and failure to thrive who was referred for abdomen CT scan. The CT scan revealed stippled calcifications of both enlarged adrenal glands, without the distortion of the adreniform shape, fatty liver, splenomegaly and thickened small bowel loops; characteristic imaging findings of Wolman disease. CT scan is the imaging modality of choice for the recognition of the disease. There is no definite cure explained yet. Further studies are required to find the definite treatment of the disease.
沃尔曼病是一种致命的罕见常染色体隐性疾病，由酸性脂肪酶缺乏所定义。该疾病是一种溶酶体贮积病。脂质沉积会浸润多个器官，如肾上腺、肝脏、脾脏、骨髓、小肠袢和腹部淋巴结。婴儿通常表现为发育不良、腹胀、呕吐、脂肪泻和肝脾肿大。作者报告了一名1个月大的男性婴儿，因腹胀和发育不良前来就诊，转诊后进行腹部CT扫描。CT扫描显示双侧肾上腺肿大并呈斑点状钙化，肾上腺形态未变形，伴有脂肪肝、脾肿大和小肠袢增厚；这些是沃尔曼病的典型影像学表现。CT扫描是识别该疾病的首选影像学检查方法。目前尚无确切的治愈方法。需要进一步研究以找到该疾病的确切治疗方法。
