Chediak Higashi syndrome presenting in accelerated phase: a case report and literature review
DOI:
https://doi.org/10.18203/2349-3291.ijcp20172703Keywords:
Accelerated phase, Chediak Higashi syndrome, Hematology, TreatmentAbstract
Chediak Higashi syndrome (CHS) is a rare autosomal recessive lysosomal disorder characterized by frequent infections, oculocutaneous albinism, bleeding diathesis and progressive neurologic deterioration. In 85% of cases, CHS patients develop the accelerated phase characterized by pancytopenia, high fever, and lymphohistiocytic infiltration of liver, spleen, and lymph nodes. Treatment of accelerated-phase CHS is difficult and the prognosis is poor. Here, we report a case of CHS in a 1-year-old girl who presented in the accelerated phase of the disease. CHS diagnosis was made on the basis of clinical characteristics, hair analysis and identification of pathognomonic giant azurophilic granules in peripheral blood smear.
References
Kaplan J, De Domenico I, Ward DM. Chediak Higashi syndrome. Curr Opin Hematol. 2008;15(1):22-29.
De Azambuja AP, DoNascimento B, Comar SR, Loth G, Ribeiro LL, Bonfim C et al. Four cases of Chediak–Higashi syndrome. Rev Bras Hematol Hemoter. 2011;33:315-322.
Bhambhani V, Introne WJ, Lungu C, Cullinane A, Toro C. Chediak–Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism Mov Disord. 2013;28:127-9.
Bharti S, Bhatia P, Bansal D, Varma N. The accerated phase of Chediak-Higashi syndrome: the importance of hematological evaluation. Turk J Hematol. 2013;30(1):85.
Beguez-Cesar A. Neutropeneiacronicamfamilyignalisation of the leukocytes. Bol Soc Cubana Pediatr. 1943;15:900-922.
Chediak MM. New leukocyte anomaly of constitutional and familial character. Rev Hematol. 1952;7(3):362-7.
Higashi O. Congenital gigantism of peroxidase. Tohoku J Exp Med. 1954;59:315-322.
Nagai K, Ochi F, Terui K, Maeda M, Ohga S, Kanegane H et al. Clinical characteristics and outcomes of Chediak–Higashi syndrome: a nationwide survey of Japan. Pediatr Blood Cancer. 2013;60:1582-6.
Usha HN, Prabhu PD, Sridevi M, Baindur K, Balakrishnan CM. Chediak–Higashi syndrome. Indian Pediatr. 1994;34:1115-9.
Roy A, Kar R, Basu D, Srivani S, Badhe BA. Clinico-hematological profile of Chediak-Higashi syndrome: experience from a tertiary care center in south India. Indian J Pathol Microbiol. 2011;54(3):547.
Farhoudi A, Chavoshzadeh Z, Pourpak Z, Izadyar M, Gharagozlou M, Movahedi M, et al. Report of six cases of Chediak–Higashi syndrome with regard to clinical and laboratory findings. Iran J Allergy Asthma Immunol. 2003;2(4):189-92.
Roy A, Kar R, Basu D, Srivani S, Badhe BA.. Clinico-hematological profile of Chediak Higashi: experience from a tertiary care center in south India. Indian J Pathol Microbiol. 2011;54(3):547.
Dotta L, Parolini S, Prandini A, Tabellini G, Antolini M, Kingsmore SF, Badolato R. Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism. Orphanet J Rare Dis. 2013;8(1):168.
Barrat FJ, Auloge L, Pastural E, Lagelouse RD, Vilmer E, Cant AJ et al. Genetic and physical mapping of the Chediak–Higashi syndrome on chromosome 1q42–43. Am J Hum Genet. 5 1996;59(3):625.
Olkkonen VM, Ikonen E. Genetic defects of intracellular-membrane transport. N Engl J Med. 2000;343:1095-1104.
Azambuja AP, Nascimento BD, Comar SR, Loth G, Ribeiro LL, Bonfim C et al. Four cases of Chediak–Higashi syndrome. Rev Bras Hematol Hemoter. 33 2011;33:315-22.
Westbroek W, Adams D, Huizing M, Koshoffer A, Dorward H, Tinloy B et al. The severity of cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype. J Invest Dermatol. 2007;127(11):2674
