A child with Chediak-Higashi syndrome-a case study

Judie Arulappan*, Deepa Shaji Thomas, Yaser Ahmed Wali, Sathish Kumar Jayapal, Munikumar Ramasamy Venkatasalu

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)


Master “A”, 7 years old male child with a rare genetic disorder called Chediak-Higashi syndrome is presented here. The child was initially diagnosed to have Chediak-Higashi syndrome with Hemophagocytic lymphohistiocytosis(HLH). The child was on treatment since 2010. Recently in 2016, the child was admitted with febrile neutropenia, pseudomonas septicemia, pneumonia, marked edema and deep jaundice. He received treatment with Tazocin and was discharged in a good condition. After one week, the child was readmitted with hyperthermia, poor oral intake and respiratory distress. In the evening he was noticed to have encephalopathy with staring gaze and lapses of disorientation and frequent nystagmus. The child also developed septic shock and multi organ failure. The child progressed into severe hypotension with blood pressure 58/26 mm Hg, heart rate 40 beats/ minute and saturation 82% on 15 Liters’ of O2 via non-rebreathing mask, and developed asystole. Death was confirmed by fixed and dilated pupils, no pulse and no heart beats.

Original languageEnglish
Pages (from-to)69-72
Number of pages4
JournalCurrent Pediatric Research
Issue number1
Publication statusPublished - 2018


  • Chediak-Higashi syndrome
  • Children
  • Genetic disorder

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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