Wolman disease in patients with familial hemophagocytic lymphohistiocytosis (FHL) negative mutations

Lysosomal acid lipase deficiency in pediatric patients: a scoping review

“…At the end of the selection process, only 108 articles were retained. 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 59 , 60 , 61 , 62 , 63 , 64 , 65 , 66 , 67 , 68 , 69 , 70 , 71 , 72 , 73 , 74 , 75 , 76 , 77 , 78 , 79 , 80 , 81 , 82 , 83 , …”

Diagnosis, treatment, and follow-up of a case of Wolman disease with hemophagocytic lymphohistiocytosis

“…Our case shows that WD, along with other treatable metabolic diseases, should be considered in the diagnostic workup of splenomegaly diagnosed at birth for an early diagnosis and treatment. HLH features could have been misleading in suspecting WD, that was not immediately considered due to the extreme rarity of the disease association (15 WD cases with HLH have been reported at today) ( Table 2 ), the relatively slight elevation of total cholesterol levels, the negative bone marrow aspirate, and the lack of visualization of the adrenal calcification at the abdominal US [3] , [4] , [5] , [6] , [7] , [8] , [9] , [10] , [11] . Most probably due to the diagnostic delay, our patient developed severe HLH features.…”

“…The majority of symptoms of WD are rather unspecific, whereas, besides hepatosplenomegaly, the hallmarks of the disease are: 1) triangular symmetrically enlarged and calcific adrenal glands; 2) high total serum concentrations of cholesterol, LDL, triglycerides, and low serum concentration of HDL; 3) lymphocytosis in peripheral smear and vacuolated macrophages in bone marrow [1] ; 4) elevated serum levels of the oxysterols cholestan-3β,5α,6β-triol (C-triol) and 7-ketocholesterol (7-KC) [2] . Hemophagocytic lymphohistiocytosis (HLH) associated with WD has so far been reported in 15 cases [3] , [4] , [5] , [6] , [7] , [8] , [9] , [10] , [11] .…”

Wolman’s disease presenting with secondary hemophagocytic lymphohistiocytosis: a case report from Saudi Arabia and literature review

“…Similar to other cases that reported WD and sHLH, the infant showed refractory response to multiple therapies. Including our patient, 11 cases of WD associated with sHLH were reported (Table 2) [11][12][13][14][15][16][17]. WD is likely to be underestimated since it is fatal before the likely reorganization of sHLH.…”