Abstract
Chediak Higashi Syndrome (CHS) is a rare autosomal recessive disorder with fewer than 500 cases published worldwide over the last 20 years[1]. The important clinical clue for recognising this entity is, by the presence of partial oculo cutaneous albinism. This disease usually presents with recurrent infections and uncommonly also presents with dangerous life threatening condition as HLH (Hemophagocytic Lymphohistiocytosis). The clinical features of this syndrome include partial albinism, photosensitivity, severe recurrent bacterial infections, bleeding diathesis, and late onset neurological manifestations (central and peripheral neuropathy, sensory loss, muscle weakness, cerebellar ataxia, and cognitive impairment)[2,3]. Approximately 85% of cases develop a fatal accelerated phase (HLH) characterized by pancytopenia, hemophagocytosis, and marked infiltration of organs by lymphocytes leading to hepatosplenomegaly, lymphadenopathy and finally with multi-organ dysfunction (MODS)[6].
Owing to the rarity of the condition and the characteristic clinical and hematological findings, we report a case of Chediak– Higashi Syndrome (CHS) which presented with HLH.
Keywords: Chediak Higashi, partial albinism, HLH, MODS.
References
- Kaplan J, De Domenico I, Ward DM. Chediak–Higashi syndrome. Curr Opin Hematol 2008;15(1):22–9.
- 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;33:315–22.
- 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.
- 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.
- Dotta L, Parolini S, Prandini A, Tabellini A, Antolini M, Kurtzberg J, et al. Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism. Orphanet J Rare Dis 2013;8:168.
- Pujani M, Agarwal K, Bansal S, Ahmad I, Puri V, Verma D, et al. Chediak–Higashi syndrome: a report of two cases with unusual hyperpigmentation of the face. Turk Patoloji Derg 2011;27:246–8.
- 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: experience from a tertiary care center in south India. Indian J Pathol Microbiol 2011;54:547–51.
- 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 1996;59:625–32.
- 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;33:315–22.
- Olkkonen VM, Ikonen E. Genetic defects of intracellularmembrane transport. N Engl J Med 2000;343:1095–104.
- Henter JI, Horne A, Arico´ M, Egeler RM, Filipovich AH,Imashuku S, et al. HLH 2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer 2007;48:124–31.
- Filipovich AH. Hemophagocytic lymphohistiocytosis and related disorders. Curr Opin Allergy Clin Immunol 2006;6: 410–5.
Corresponding Author
Dr B. Maheswar Rao
Assistant Professor Pediatrics, MKCG MCH, Berhampur, Odisha
DOI: https://dx.doi.org/10.18535/jmscr/v8i6.92
