Variants of LYST and Novel STK4 Gene Mutation in a Child With Accelerated Chediak Higashi Syndrome
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Chediak-Higashi syndrome (CHS) is a rare haematological and immunodeficiency disorder that occurs in childhood leading to recurrent infections, bleeding tendencies and progressive neurological dysfunction. Partial oculocutaneous albinism occurs in almost all cases. The exact prevalence is unknown, and the disease is caused by over 70 identified mutations in the lysosomal trafficking regulator gene. The presence of a bright polychromatic appearance from hair shaft and abnormally large intracytoplasmic granules, especially within neutrophils and platelets in the bone marrow is highly suggestive. Treatment is largely supportive, and the only curative treatment is through an allogeneic hematopoietic stem cell transplant. Without transplant, most patients will enter an accelerated phase of hemophagocytic lymphohistiocytosis (HLH) which carries a high mortality rate. We present a young male with CHS who we had followed through and eventually developed a fulminant accelerated phase. We believe this is only the second reported case of CHS in Malaysia.
Abstract
Chediak-Higashi syndrome (CHS) is a rare haematological and immunodeficiency disorder that occurs in childhood leading to recurrent infections, bleeding tendencies and progressive neurological dysfunction. Partial oculocutaneous albinism occurs in almost all cases. The exact prevalence is unknown, and the disease is caused by over 70 identified mutations in the lysosomal trafficking regulator gene. The presence of a bright polychromatic appearance from hair shaft and abnormally large intracytoplasmic granules, especially within neutrophils and platelets in the bone marrow is highly suggestive. Treatment is largely supportive, and the only curative treatment is through an allogeneic hematopoietic stem cell transplant. Without transplant, most patients will enter an accelerated phase of hemophagocytic lymphohistiocytosis (HLH) which carries a high mortality rate. We present a young male with CHS who we had followed through and eventually developed a fulminant accelerated phase. We believe this is only the second reported case of CHS in Malaysia.
참고문헌 (18)
- Arulappan J, "A child with Chediak-Higashi syndrome-a case study", Curr Pediatr Res, 22, pp.69~72 (2018)
- Jayaranee S, "Chediak-Higashi syndrome : a case report", Malays J Pathol, 26, pp.53~57 (2004)
- Sharma P, "Chediak-Higashi syndrome : a review of the past, present, and future", Drug Discov Today Dis Models, 31, pp.31~36 (2020)
- Siddiqui E, "Chediak-Higashi syndrome", Pak J Med Sci, 24, pp.328~330 (2008)
- Helmi MM, "Chédiak-Higashi syndrome with novel gene mutation", BMJ Case Rep, 2017, pp.bcr2016216628~ (2017)
- Patne SC, "Chédiak-higashi syndrome : a case report", Indian J Hematol Blood Transfus, 29, pp.80~83 (2013)
- Valente NY, "Polarized light microscopy of hair shafts aids in the differential diagnosis of Chédiak-Higashi and Griscelli-Prunieras syndromes", Clinics(Sao Paulo), 61, pp.327~332 (2006)
- Morimoto M, "Spectrum of LYST mutations in Chediak-Higashi syndrome : a report of novel variants and a comprehensive review of the literature", J Med Genet, 61, pp.212~223 (2024)
- Abdollahpour H, "The phenotype of human STK4 deficiency", Blood, 119, pp.3450~3457 (2012)
- Nehme NT, "MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival", Blood, 119, pp.3458~3468 (2012)
- Upton J, "Immunodeficiencies with hypergammaglobulinemia : a review", LymphoSign Journal, 2, pp.150113084544003~ (2014)
- Boxer LA, "Correction of leukocyte function in Chediak-Higashi syndrome by ascorbate", N Engl J Med, 295, pp.1041~1045 (1976)
- Lozano ML, "Towards the targeted management of Chediak-Higashi syndrome", Orphanet J Rare Dis, 9, pp.132~ (2014)
- Aslan Y, "The role of high dose methylprednisolone and splenectomy in the accelerated phase of Chédiak-Higashi syndrome", Acta Haematol, 96, pp.105~107 (1996)
- Sparber-Sauer M, "Patients with early relapse of primary hemophagocytic syndromes or with persistent CNS involvement may benefit from immediate hematopoietic stem cell transplantation", Bone Marrow Transplant, 44, pp.333~338 (2009)
- Tardieu M, "Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for Chediak-Higashi syndrome", Blood, 106, pp.40~42 (2005)
- Eapen M, "Hematopoietic cell transplantation for Chediak-Higashi syndrome", Bone Marrow Transplant, 39, pp.411~415 (2007)
- Sung JH, "Neuropathological changes in Chédiak-Higashi disease", J Neuropathol Exp Neurol, 28, pp.86~118 (1969)