A child with Chediak-Higashi syndrome-a case study

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

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

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
Volume22
Issue number1
Publication statusPublished - Jan 1 2018

Fingerprint

Chediak-Higashi Syndrome
Pupil Disorders
Hemophagocytic Lymphohistiocytosis
Febrile Neutropenia
Inborn Genetic Diseases
Brain Diseases
Septic Shock
Masks
Pseudomonas
Jaundice
Heart Arrest
Hypotension
Pulse
Edema
Sepsis
Pneumonia
Fever
Heart Rate
Blood Pressure

Keywords

  • Chediak-Higashi syndrome
  • Children
  • Genetic disorder

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Arulappan, J., Thomas, D. S., Wali, Y. A., Jayapal, S. K., & Venkatasalu, M. R. (2018). A child with Chediak-Higashi syndrome-a case study. Current Pediatric Research, 22(1), 69-72.

A child with Chediak-Higashi syndrome-a case study. / Arulappan, Judie; Thomas, Deepa Shaji; Wali, Yaser Ahmed; Jayapal, Sathish Kumar; Venkatasalu, Munikumar Ramasamy.

In: Current Pediatric Research, Vol. 22, No. 1, 01.01.2018, p. 69-72.

Research output: Contribution to journalArticle

Arulappan, J, Thomas, DS, Wali, YA, Jayapal, SK & Venkatasalu, MR 2018, 'A child with Chediak-Higashi syndrome-a case study', Current Pediatric Research, vol. 22, no. 1, pp. 69-72.
Arulappan J, Thomas DS, Wali YA, Jayapal SK, Venkatasalu MR. A child with Chediak-Higashi syndrome-a case study. Current Pediatric Research. 2018 Jan 1;22(1):69-72.
Arulappan, Judie ; Thomas, Deepa Shaji ; Wali, Yaser Ahmed ; Jayapal, Sathish Kumar ; Venkatasalu, Munikumar Ramasamy. / A child with Chediak-Higashi syndrome-a case study. In: Current Pediatric Research. 2018 ; Vol. 22, No. 1. pp. 69-72.
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