Chédiak-Higashi Syndrome

Maya Kawwa
22/11/2022
 Structure
What is Chédiak-Higashi Syndrome?

Epidemiology

Pathologensis

Clinical features

Diagnosis

Treatment

Case

Citations
 What is Chédiak-Higashi Syndrome?
Chediak-Higashi syndrome affects the immune system and other organs. This illness kills
immune system cells, weakening them against viruses and bacteria. Most people with Chediak-
Higashi syndrome get persistent infections in early childhood. Infections may be lethal.

Chediak-Higashi syndrome is characterized by oculocutaneous albinism, which causes affected

individuals to have pale skin, hair, and eyes. Oculocutaneous albinism produces impaired vision,
and light sensitivity (photophobia).

Most children with Chediak-Higashi syndrome move to the accelerated phase if untreated. This
extreme stage is likely to be viral. During the accelerated phase, white blood cells divide quickly
and invade several organs. Fever, unusual bleeding, overwhelming infections, and organ failure
occur during the accelerated phase.

Adults with the illness had fewer pigmentation alterations and significant infections. They are
more likely to suffer tremors, ataxia, peripheral neuropathy, and cognitive decline.

CHS is inherited as an autosomal recessive genetic disorder.

 Epidemiology
The precise prevalence is unknown. There
have been less than 500 instances
recorded globally. Because some cases
were reported more than once, and
minimally afflicted people go mostly
unnoticed or unreported, determining the
prevalence is challenging.

There is no preference for one race over

another same goes for gender. All age
groups are at risk. However, the condition
usually appears after delivery and before
the age of five.
 Pathologensis
Chediak-Higashi syndrome is a genetic characteristic that is inherited as an autosomal
recessive trait. The relevant gene, known as the LYST gene, has been localized to the
chromosomal region 1q42.1-q42.2.

The faulty gene disrupts the traffic patterns of proteins inside cells. Proteins that are supposed
to transfer from one section of the cell to another may be misdirected or fail to do so.

For example, a granule in which melanin is produced is disrupted, preventing the pigment
from being delivered to the proper skin cell.A deficiency in white blood cell transport also
makes the cell incapable of destroying infective organisms such as viruses or bacteria,
producing immunological issues.
 Clinical features
Blonde or light brown with a silvery hue. Reduced pigment in the eyes and skin may
make affected individuals photosensitive and cause fast, involuntary eye movements
(nystagmus). CHS affects the immunological and neurological systems more severely.

CHS causes abnormally big white blood cell granules that hinder white blood cell
infection fighting. Children often have bacterial, viral, and fungal skin and respiratory
illnesses. CHS causes decreased white blood cell counts. Platelet counts are normal,
however dysfunctional platelets cause easy bruising and persistent bleeding.

Classic and Mild forms exist. Mild cases may have lesser illnesses and symptoms.

85% of Classic-type children are at risk for the accelerated disease at any age.

Some people develop Parkinson's-like symptoms.

 Diagnosis
The discovery of 'giant granules' in microscopic examination of
white blood cells is commonly used to make the diagnosis of CHS
as well as pigment clumping in hair, visible under microscopy,

The following tests may also be performed:

1. A complete blood count, including a count of white blood cells

2. Platelet count in the blood and functionality

3. Smear and blood culture

4. CT or MRI of the brain

5. Electroencephalogram (EEG)

6. Electromyography (EMG)

7. Nerve conduction studies

 Treatment
There is currently no cure or medication that is
specifically designed to treat Chediak-Higashi
syndrome. In many individuals, bone marrow
transplants that were conducted at an earlier
stage of the illness seem to have been effective.

Infectious diseases may be treated using

antibiotics. When the illness has progressed to
an advanced stage, medical professionals often
prescribe chemotherapeutic treatments.
Transfusions of blood and platelets are
performed whenever they are deemed
necessary. In rare situations, abscesses may
only be drained successfully with surgical
intervention.
 Case
After a normal pregnancy and childbirth, patient was born to
consanguineous parents.She began suffering stomach distension,
fever, and lack of appetite at age 2 before seeking medical help.
Parents and siblings; 2 sisters and 4 brothers have neither fair
complexion nor blond hair.However one of her siblings had fair-skin,
silver-hair and had died from the same condition a 4 years prior . His
condition began at 3 months with repeated chest infections; he died
at 1.5 years. This patient had pale complexion and blond hair from
birth, unlike her parents and siblings, but like her brother. Bone
marrow and blood smears showed large granules in leukocyte
precursor cells. Under a microscope, hair exhibited pigment
clumping. She had no bleeding history, but photophobia, fast and
involuntary eye movements (nystagmus) , pale retina, and
papilledema all helped the doctors diagnose her with CHS.

She became Libya's first reported case.

How many people have been diagnosed with Chédiak-Higashi
Syndrome globally ?
 Citations
Patne, S. C. U., Kumar, S., Bagri, N. K., Kumar, A., & Shukla, J. (2013, June). Chédiak-Higashi Syndrome. Indian
journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood
Transfusion. Retrieved November 22, 2022, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3636352/

Chediak-Higashi syndrome. UpToDate. (n.d.). Retrieved November 22, 2022, from

https://www.uptodate.com/contents/chediak-higashi-syndrome

Henderson, A. M. R. by E. (2022, May 19). What is Chediak-Higashi Syndrome? News. Retrieved November 22,
2022, from https://www.news-medical.net/health/What-is-Chediak-Higashi-Syndrome.aspx

Fernandez, J. (2022, November 14). Chédiak-Higashi Syndrome - Immune Disorders. Merck Manuals Consumer
Version. Retrieved November 22, 2022, from
https://www.merckmanuals.com/home/immune-disorders/immunodeficiency-disorders/ch%C3%A9diak-higashi-
syndrome

Roman J Nowicki, M. D. (2020, December 11). Chediak-Higashi Syndrome Workup. Laboratory Studies, Imaging
Studies, Other Tests. Retrieved November 22, 2022, from https://emedicine.medscape.com/article/1114607-workup