Links to other pages within Patient UK which are related to this topic:
Experience | Support | Patient+ | Weblinks | News | Products | Other
Print options:   Other options:   Bookmark and Share

This is a PatientPlus article. PatientPlus articles are written for doctors and so the language can be technical. However, some people find that they add depth to the articles found in the other sections of this website which are written for non-medical people.

Chediak-Higashi Syndrome

Post your experience

Chediak-Higashi syndrome is inherited as an autosomal recessive disease.1 It was described over 50 years ago. Clinical reports have identified mutations throughout the CHS1/LYST lysosomal trafficking gene.2 The nature of the mutation can be a predictor of the severity of the disease.3 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.4 Family history of the disease is a risk factor but it is uncommon to find a positive history in patients with this condition.5

Presentation1,4
  • Impaired vision
  • Photophobia
  • Albinism of the OCA2 type, giving a lighter complexion than unaffected family members6
  • Silvery sheen to hair which may be fair in colour
  • Frequent infections (skin, mucous membranes, respiratory)
  • Epilepsy
  • Mental retardation
  • Enlarged liver and spleen
  • Jaundice
  • Ataxia causing incoordination and a typical ataxic gait
  • Tremor
  • Epilepsy
  • Peripheral neuropathy causing motor and sensory changes and weakness (if patient survives into adulthood)7
Differential diagnosis

Initially the condition may present as one of the varieties of albinism but the recurrent infections should make one suspect the diagnosis. The Hermansky-Pudlak syndrome and Griscelli's syndrome are similar but distinct conditions.8,9

Investigations1,4
  • Blood smear shows giant granules in the neutrophils that stain for peroxidases.
  • Bone marrow smears show giant inclusion bodies in leukocyte precursor cells.4
  • Giant granules are also found in cells from biopsy of skin, muscle and nervous system.
  • Platelet or leukocyte 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's syndrome.10
  • Fluorescence cytometric analysis of cellular granularity and surface molecules offer useful diagnostic information.4
  • EEG may be abnormal.
  • Brain MRI or CT scan may show small brain due to atrophy.
  • Oral radiographs may reveal extensive loss of alveolar bone, often resulting in tooth exfoliation.4.
  • 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.4
  • For a better understanding of the visual defects and the problems related to the OCA2, see the separate record on Albinism.
Management4

Drug

  • Allogenic bone marrow transplantation (BMT) from an HLA-matched sibling is the treatment of choice but does not prevent the neurological disorders.
  • If no related donor is available, an unrelated donor or a placental blood graft may be used.
  • Haemopoietic stem cell transplant proved an effective treatment in one study.11
  • Antiviral drugs like aciclovir, high-dose intravenous gamma globulin; and microtubulytic drugs, such as vincristine, vinblastine and colchicine, are effective in the management of the accelerated phase. Cyclophosphamide and prednisolone have been tried but without much benefit. High-dose methylprednisolone and splenectomy have produced temporary respite.1,12
  • Frequent infections are treated with antibiotics.

Non-drug

  • Abscesses are surgically drained when appropriate.1
  • BMT appears to have been successful in several patients.13
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.2,4

Prognosis

Without BMT, death before the age of 10 is common.4 The terminal phase of the illness is not treatable.2,4

Prevention

Genetic counselling is recommended for prospective parents with a family history of Chediak-Higashi syndrome.14 Examination of hair from fetal scalp biopsy specimens and of leukocytes from fetal blood samples can be used for prenatal diagnosis.4


Document references
  1. Sondheimer N; Chediak-Higashi syndrome; Medline Plus
  2. OMIM; Chediak-Higashi syndrome
  3. Kaplan J, De Domenico I, Ward DM; Chediak-Higashi syndrome. Curr Opin Hematol. 2008 Jan;15(1):22-9. [abstract]
  4. Nowicki R,Sczarmach S; Chediak-Higashi Syndrome; eMedicine, 2009.
  5. 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]
  6. OMIM; Oculocutaneous albinism Type II; OCA2 2007
  7. Misra VP, King RH, Harding AE, et al; Peripheral neuropathy in the Chediak-Higashi syndrome. Acta Neuropathol (Berl). 1991;81(3):354-8. [abstract]
  8. 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.
  9. Scheinfield N, Johnson A; Griscelli Syndrome, eMedicine, 2008.
  10. 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]
  11. Trottestam H, Beutel K, Meeths M, et al; Treatment of the X-linked lymphoproliferative, Griscelli and Chediak-Higashi syndromes by HLH directed therapy. Pediatr Blood Cancer. 2009 Feb;52(2):268-72. [abstract]
  12. 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]
  13. 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]
  14. 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 2009.
Document ID: 1933
Document Version: 21
Document Reference: bgp1358
Last Updated: 22 Sep 2009
Planned Review: 22 Sep 2011

The authors and editors of this article are employed to create accurate and up to date content reflecting reliable research evidence, guidance and best clinical practice. They are free from any commercial conflicts of interest. Find out more about updating.

Patient UK Hearing Impairment Survey

Patient UK are grateful to the 550 people who took part in this survey.
To see the results click here.
If you'd like to leave your feedback, please go to our interactive forum.

Links to other pages within Patient UK which are related to this topic:
Experience | Support | Patient+ | Weblinks | News | Products | Other
Print options:   Other options:   Bookmark and Share
Want to search some more? Use the Google Search box below to search our site.

Related pages in Patient UK

Your Experience (^ top of page)

 Please add your experience about this condition / medicine
Support Group Albinism Fellowship

 Albinism
 Eye in Systemic Disease
 Immunodeficiency (Primary and Secondary)

 Albinism

Latest Health News

 View current health news

Medical equipment


Visit the Patient UK Medical Equipment shop

Books


Visit the Patient UK shop

Other - Useful resources (^ top of page)

Pictures, diagrams, photos, images, etc.
Evidence based medicine
Online textbooks and journals
UK Guidelines
Online Videos
Medline
Other good health sites

Want to search some more? Use the Google Search box below to search our site.

Advertisements











Disclaimer: Patient UK has no control over the content of any external links above. Inclusion does not imply endorsement by Patient UK.

Want to advertise on this site? Find out how >>

Clicking here will take you to the foot of this page where you'll find a list of Information Leaflets which are related to the topic you are currently viewing
Clicking here will take you to the foot of this page where you'll find a list of Support Groups which are related to the topic you are currently viewing
Clicking here will take you to the foot of this page where you'll find a list of Medicines & Drugs which are related to the topic you are currently viewing
Clicking here will take you to the foot of this page where you'll find a list of diagrams which are related to the topic you are currently viewing
Clicking here will take you to the foot of this page where you'll find a list of PatientPlus (detailed reference) articles which are related to the topic you are currently viewing
Clicking here will take you to the foot of this page where you'll find a list of UK Guidelines which are related to the topic you are currently viewing
Clicking here will take you to the foot of this page where you'll find a list of other selected websites which are related to the topic you are currently viewing
Clicking here will take you to the foot of this page where you'll find a list of Poems and Stories which are related to the topic you are currently viewing
Clicking here will take you to the foot of this page where you'll find a list of Operations and Procedures which are related to the topic you are currently viewing
Clicking here will take you to the foot of this page where you'll find a list of Online Videos which are related to the topic you are currently viewing
Clicking here will take you to the foot of this page where you'll find links through to our interactive forum.
Here you can follow a link to view existing patient experiences on this subject, or to add your own
Clicking here will take you to the foot of this page where you'll find links to news stories on this subject in our Online Newspaper
Clicking here will take you to the foot of this page where you'll find links to related products
Clicking here will take you to the foot of this page where you'll find links to other useful sources of information
Click here to open a printer-friendly version of this document, in a new window, together with the print dialogue box
Click here to open this document in PDF format
This will offer you the usual PDF options i.e. document navigation, search, zoom and formatted print
Note: this is the best way to print the document
Click here to listen to the MP3 audio recording of this document
Click here to download the audio recording of this document as a podcast, for listening to at your leisure
Click here to open our Dictionaries and Glossaries page
Click here to see related products in our Online Pharmacy
Note: this will open in a new window
Click here to add this page to a social bookmarking site of your choice
Click here if you want to find out more about social bookmarking. This link will take you to the Wikipedia explanation
Note: this will open in a new window
Clicking here will take you to the foot of this page where you'll find a list of Information Leaflets which are related to the topic you are currently viewing
Clicking here will take you to the foot of this page where you'll find a list of Support Groups which are related to the topic you are currently viewing
Clicking here will take you to the foot of this page where you'll find a list of Medicines & Drugs which are related to the topic you are currently viewing
Clicking here will take you to the foot of this page where you'll find a list of diagrams which are related to the topic you are currently viewing
Clicking here will take you to the foot of this page where you'll find a list of PatientPlus (detailed reference) articles which are related to the topic you are currently viewing
Clicking here will take you to the foot of this page where you'll find a list of UK Guidelines which are related to the topic you are currently viewing
Clicking here will take you to the foot of this page where you'll find a list of other selected websites which are related to the topic you are currently viewing
Clicking here will take you to the foot of this page where you'll find a list of Poems and Stories which are related to the topic you are currently viewing
Clicking here will take you to the foot of this page where you'll find a list of Operations and Procedures which are related to the topic you are currently viewing
Clicking here will take you to the foot of this page where you'll find a list of Online Videos which are related to the topic you are currently viewing
Clicking here will take you to the foot of this page where you'll find links through to our interactive forum.
Here you can follow a link to view existing patient experiences on this subject, or to add your own
Clicking here will take you to the foot of this page where you'll find links to news stories on this subject in our Online Newspaper
Clicking here will take you to the foot of this page where you'll find links to related products
Clicking here will take you to the foot of this page where you'll find links to other useful sources of information
Click here to open a printer-friendly version of this document, in a new window, together with the print dialogue box
Click here to open this document in PDF format
This will offer you the usual PDF options i.e. document navigation, search, zoom and formatted print
Note: this is the best way to print the document
Click here to listen to the MP3 audio recording of this document
Click here to download the audio recording of this document as a podcast, for listening to at your leisure
Click here to open our Dictionaries and Glossaries page
Click here to see related products in our Online Pharmacy
Note: this will open in a new window
Click here to add this page to a social bookmarking site of your choice
Click here if you want to find out more about social bookmarking. This link will take you to the Wikipedia explanation
Note: this will open in a new window
Click here to return to the home page
Click here to read our 'About Us' page
Go to the Emis Access website, where you can book an appointment with your GP, order a repeat prescription or view you medical record online.
Note: this will open in a new window
View and/or join in discussion about health, lifestyle and disease in our interactive forum.
Note: this will open in a new window
Visit our pharmacy product price comparison website
Go to our online newspaper for current medical news and commentary.
Note: this will open in a new window
Adverts on this site do not influence the medical content. Click to read more.
Adverts on this site do not influence the medical content. Click to read more.