Mnif K, Chabchoub A, Marrakchi Z, Ayachi R, Khrouf N
Service de néonatologie, centre de maternité et de néonatologie de la Rabta, Tunis, Tunisie.
Arch Pediatr. 1994 Jul;1(7):663-6.
Wolman disease is a severe disease associated with hepatosplenomegaly and adrenal calcifications; it is nearly always fatal in the first year of life.
A boy was born to consanguineous parents. His weight was 3,500 g, height 53 cm. Hepatomegaly was observed at the age of 26 days; he also had vomiting and watery stools with failure to thrive. Diagnosis of Wolman disease was suspected due to family history. Two sisters had died at the age of 3 months without precise diagnosis; both had abdominal distension, hepatosplenomegaly, anemia and inanition; CT scan showed calcifications of adrenal glands in one of them that had been attributed to adrenal hemorrhage. Investigations in our patient showed no adrenal calcification, hepatomegaly without splenomegaly, anemia (Hb: 8 g/100 ml). Liver biopsy showed enlarged and vacuolated parenchymal and Kupffer cells but the marrow did not contain foam cells. Acid lipase deficiency was demonstrated in cultured skin fibroblasts, permitting prenatal diagnosis in a further sib.
This case of Wolman disease was the first seen in Tunisia; it was inherited as an autosomal recessive disorder; this patient, as two of his sisters, died during the first 6 months of life.
沃尔曼病是一种与肝脾肿大和肾上腺钙化相关的严重疾病；几乎在生命的第一年就总是致命的。
一名男婴由近亲父母所生。他体重3500克，身高53厘米。出生26天时发现肝肿大；他还有呕吐和水样便，发育不良。由于家族病史，怀疑患有沃尔曼病。两个姐姐在3个月大时死亡，未得到确切诊断；两人均有腹胀、肝脾肿大、贫血和消瘦；CT扫描显示其中一人肾上腺钙化，当时归因于肾上腺出血。对我们这位患者的检查显示没有肾上腺钙化，肝肿大但无脾肿大，贫血（血红蛋白：8克/100毫升）。肝活检显示实质细胞和库普弗细胞肿大且有空泡，但骨髓中没有泡沫细胞。在培养的皮肤成纤维细胞中证实存在酸性脂肪酶缺乏，从而得以对另一个同胞进行产前诊断。
这例沃尔曼病是突尼斯首例；它作为常染色体隐性疾病遗传；该患者和他的两个姐姐一样，在出生后的头6个月内死亡。
