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Background <p>Lysosomal acid lipase (LAL) deficiency is hyperinflammatory disease caused by the deficiency of the enzyme which hydrolyzes cholesterol esters and triglycerides; thus, there is pathologic accumulation of cholesterol in various tissues. Wolman disease (WD) and cholesteryl ester storage disease (CESD) are two phenotypes of the same disorder with low or absent LAL activity. CESD has lower mortality and presents by hyperlipidemia, atherosclerosis, and hepatic fibrosis, while WD classic presentations include hepatosplenomegaly, malabsorption, failure to thrive, and organ-specific symptoms such as hepatic damage or adrenal calcification.</p> Case presentation <p>Herein, we describe a 3-month-old female patient with an unusual presentation of Wolman disease in the form of secondary hemophagocytic lymphohistiocytosis (HLH). The patient presented with severe diarrhea, dehydration, metabolic acidosis, and sepsis. Laboratory workup revealed anemia and thrombocytopenia. Bone marrow aspirate showed hypocellular marrow with few macrophage cells showing phagocytosis. The patient had elevated levels of ferritin, triglycerides, fibrinogen, and soluble CD25, and thus, the diagnosis of HLH was suspected. Next-generation sequencing was performed, and it revealed one homozygous previously reported pathogenic variant in <i>LIPA</i> gene: c.398del; p. (Ser133Ter); thus, the diagnosis of Wolman disease was confirmed.</p> Conclusions <p>Wolman disease should be suspected in infants with HLH criteria, as the early diagnosis will improve outcomes in these patients especially if enzyme replacement therapy is available.</p>

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An Egyptian child with Wolman disease presenting with hemophagocytic lymphohistiocytosis

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2024年12月31日

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  • Rabab El Hawary,
  • Safa Meshaal,
  • Alia S. Eldash,
  • Sohilla Lotfy,
  • Dalia Abd Elaziz,
  • Radwa Alkady,
  • Rania Darwish,
  • Aya Erfan,
  • Mai Saad,
  • Engy Chohayeb,
  • Nermeen Galal,
  • Aisha M. Elmarsafy

摘要

Background

Lysosomal acid lipase (LAL) deficiency is hyperinflammatory disease caused by the deficiency of the enzyme which hydrolyzes cholesterol esters and triglycerides; thus, there is pathologic accumulation of cholesterol in various tissues. Wolman disease (WD) and cholesteryl ester storage disease (CESD) are two phenotypes of the same disorder with low or absent LAL activity. CESD has lower mortality and presents by hyperlipidemia, atherosclerosis, and hepatic fibrosis, while WD classic presentations include hepatosplenomegaly, malabsorption, failure to thrive, and organ-specific symptoms such as hepatic damage or adrenal calcification.

Case presentation

Herein, we describe a 3-month-old female patient with an unusual presentation of Wolman disease in the form of secondary hemophagocytic lymphohistiocytosis (HLH). The patient presented with severe diarrhea, dehydration, metabolic acidosis, and sepsis. Laboratory workup revealed anemia and thrombocytopenia. Bone marrow aspirate showed hypocellular marrow with few macrophage cells showing phagocytosis. The patient had elevated levels of ferritin, triglycerides, fibrinogen, and soluble CD25, and thus, the diagnosis of HLH was suspected. Next-generation sequencing was performed, and it revealed one homozygous previously reported pathogenic variant in LIPA gene: c.398del; p. (Ser133Ter); thus, the diagnosis of Wolman disease was confirmed.

Conclusions

Wolman disease should be suspected in infants with HLH criteria, as the early diagnosis will improve outcomes in these patients especially if enzyme replacement therapy is available.