BACKGROUND FAMILY HISTORY A consanguineous Pakistani couple presented with a history of recurrent miscarriages and infant deaths (Figure 1). Their first pregnancy ended with intrauterine death at 27 weeks of gestation. The second pregnancy produced twins: twin I died at age 18 months and twin II was male and currently healthy with normal development. The third pregnancy produced a male who presented with status epilepticus and global developmental delay at age 2 years. He developed persistent breakthrough seizures despite being prescribed long-term anticonvulsants and died at age 34 months after developing multiorgan failure. The fourth pregnancy ended with miscarriage at 8 weeks of gestation. The fifth pregnancy produced a female who was clinically followed up from birth due to a family history of suspected neurodegenerative disease. This girl was found to have developmental delay at age 12 months and became epileptic. She was subsequently diagnosed with familial haemophagocytic lymphohistiocytosis (fHLH) following whole exome sequencing that detected a homozygous missense mutation in the PRF1 (perforin) gene. Post-mortem genetic sequencing subsequently identified the same mutation in the deceased elder brother from the third pregnancy.
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