TY - JOUR
T1 - A child with Chediak-Higashi syndrome-a case study
AU - Arulappan, Judie
AU - Thomas, Deepa Shaji
AU - Wali, Yaser Ahmed
AU - Jayapal, Sathish Kumar
AU - Venkatasalu, Munikumar Ramasamy
N1 - Publisher Copyright:
© 2018, Scientific Publishers of India. All rights reserved.
PY - 2018
Y1 - 2018
N2 - 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.
AB - 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.
KW - Chediak-Higashi syndrome
KW - Children
KW - Genetic disorder
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M3 - Article
AN - SCOPUS:85046790172
SN - 0971-9032
VL - 22
SP - 69
EP - 72
JO - Current Pediatric Research
JF - Current Pediatric Research
IS - 1
ER -