Study | Country | Presentation | WD diagnosis | Fulfilled HLH criteria | Treatment | Outcome |
---|---|---|---|---|---|---|
Al Essa et al. 1998 [11] | Saudi Arabia | 4 months with WD and sHLH | Low LAL activity | Fulfilled HLH-1994 criteria | Supportive Specific: NR | Died |
Perry et al. 2005 [12] | Canada | 2 siblings presented at 49 and 26 days with WD and sHLH | Low LAL activity on autopsy | Presumptive diagnosis | Chemotherapy HSCT | Died |
Rabah et al. 2014 [13] | Oman | 2 months with WD and sHLH | Low cholesteryl esterase, LIPA sequencing negative | Yes | Supportive HLH-2004 protocol | Died |
Turasino et al. 2014 [14] | Italy | 3 months with WD and sHLH | Low LAL activity | Yes | Supportive Specific: NR | Died |
Elsayed et al. 2015* [15] | Egypt | 2.5 months with WD and sHLH | Homozygous mutation G969A (W130X) | Yes | NR | NR |
Yavus et al. 2017 [16] | Turkey | 2 months with WD and sHLH | Low LAL enzyme, heterozygous variation at LIPA gene location c:260G > T (GGC > GTC), p.Gly87Val | Yes | Supportive Specific: NR | Died |
Tinsa et al. 2019 [17] | Tunis | 4 months sHLH and WD | Homozygous mutation c.153 C > A (p.Tyr51*) | Yes | Supportive | Died |
Our patient | Saudi Arabia | 4 months sHLH in WD | Low LAL activity, homozygous deletion c.(428 + 1_967-1)_(*1_?)del in the LIPA gene | Yes | Supportive HLH-2004 protocol | Died |