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Fig. 3 | Journal of Medical Case Reports

Fig. 3

From: Wolman disease presenting with hemophagocytic lymphohistiocytosis syndrome and a novel LIPA gene variant: a case report and review of the literature 

Fig. 3

Three-dimensional illustration of the original LIPA1 molecule with wild-type glycine residue (A) and a more detailed look inside the LIPA1 molecule with wild-type (B) and the mutated residue (C). Considering the similarities in presentations of WD and HLH, the patient’s life can be saved if special attention is paid to presenting features of a patient with suspected HLH, that is symptoms, findings on physical exams, laboratory values, and radiologic findings, and if the proper treatment is urgently initiated. Reporting the novel mutations of WD can help geneticists interpret the results of their patients’ genetic studies appropriately, leading to correct diagnosis and treatment

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Journal of Medical Case Reports

ISSN: 1752-1947