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Chediak-Higashi Syndrome

Chediak-Higashi syndrome is inherited as an autosomal recessive disease.1 The primary defect is caused by mutation of the lysosomal trafficking gene (LYST).2 There are a number of animal models including mouse, cat, cattle, mink and killer whale.2

Epidemiology

The condition is rare. The literature tends to be isolated case studies or just a few cases.3
Family history of the disease is a risk factor, but it is uncommon to find a positive history in patients with this condition.4

Presentation1,3
Differential Diagnosis

Initially the condition it may present as one of the varieties of albinism but the recurrent infections should make one suspect the diagnosis. The Hermansky-Pudlak syndrome is similar but distinct (albinism with life-long bleeding tendency).7

Investigations1,3
  • Blood smear shows giant granules in the neutrophils that stain for peroxidases.
  • Giant granules are also found in cells from biopsy of skin, muscle and nervous system.
  • Platelets or leukocytes levels are abnormally low.
  • Genetic testing may show mutations in the CHS1 gene.
  • Light or polarised light examination of hair shafts can help to diagnose Chediak-Higashi Syndrome but cannot differentiate it from the appearance seen in Griscelli-Prunieras syndrome (partial albinism with immunodeficiency).8
  • EEG may be abnormal.
  • Brain MRI or CT scan may show small brain due to atrophy.
  • EMG or nerve conduction velocity testing may show delayed nerve conduction.
  • A red light reflex is present in the eye (this is frequently seen in albinism).
  • There are abnormalities of immune function including reduced level of CD4 lymphocytes.
Associated Diseases
  • Infection is a constant problem.3
  • For a better understanding of the visual defects and the problems related to the OCA2 see the record on Albinism.
Management

Drug

  • There is no specific treatment for Chediak-Higashi syndrome.
  • Antiviral drugs like acyclovir have been tried during the terminal phase of the disease. Cyclophosphamide and prednisolone have been tried but without much benefit. High dose methyl prednisolone and splenectomy have produced temporary respite.1,9
  • Frequent infections are treated with antibiotics.

Non-Drug

  • Abscesses are surgically drained when appropriate.1
  • Bone marrow transplantation appears to have been successful in several patients.10
Complications

Frequent infections lead to hypersplenism which in turn causes thrombocytopenia and haemorrhage. About 85 to 90% of patients develop an unusual lymphoma. This is called the accelerated phase and is characterised by generalised lymphohistiocytic infiltrates, fever, jaundice, hepato-splenomegaly, lymphadenopathy, pancytopenia and bleeding.2,3

Prognosis

Death is common before 7 years old. The terminal phase of the illness is not treatable.2,3 Bone marrow transplantation is a possible cure.10

Prevention

Genetic counselling is recommended for prospective parents with a family history of Chediak-Higashi. Intrauterine prenatal diagnosis is possible, but not yet widely available for this disease.11


Document References
  1. Sondheimer N; Chediak-Higashi syndrome; Medline Plus
  2. OMIM; Chediak-Higashi syndrome
  3. Nowicki R,Sczarmach S; Chediak-Higashi Syndrome; eMedicine (2003)
  4. Tanaka T; Chediak-Higashi syndrome: abnormal lysosomal enzyme levels in granulocytes of patients and family members. Pediatr Res. 1980 Aug;14(8):901-4. [abstract]
  5. OMIM; Oculocutaneous albinism Type II; OCA2 2007
  6. Misra VP, King RH, Harding AE, et al; Peripheral neuropathy in the Chediak-Higashi syndrome. Acta Neuropathol (Berl). 1991;81(3):354-8. [abstract]
  7. Hermansky F, Pudlak P; Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies; Blood. 1959 Feb;14(2):162-9.
  8. Valente NY, Machado MC, Boggio P, et al; Polarized light microscopy of hair shafts aids in the differential diagnosis of Chediak-Higashi and Griscelli-Prunieras syndromes. Clinics. 2006 Aug;61(4):327-32. [abstract]
  9. Aslan Y, Erduran E, Gedik Y, et al; The role of high dose methylprednisolone and splenectomy in the accelerated phase of Chediak-Higashi syndrome. Acta Haematol. 1996;96(2):105-7. [abstract]
  10. Liang JS, Lu MY, Tsai MJ, et al; Bone marrow transplantation from an HLA-matched unrelated donor for treatment of Chediak-Higashi syndrome. J Formos Med Assoc. 2000 Jun;99(6):499-502. [abstract]
  11. Diukman R, Tanigawara S, Cowan MJ, et al; Prenatal diagnosis of Chediak-Higashi syndrome. Prenat Diagn. 1992 Nov;12(11):877-85. [abstract]
Acknowledgements EMIS is grateful to Dr Laurence Knott for writing this article. The final copy has passed scrutiny by the independent Mentor GP reviewing team. ©EMIS 2007.
DocID: 1933
Document Version: 20
DocRef: bgp1358
Last Updated: 17 Sep 2007
Review Date: 16 Sep 2009




















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