Chédiak -Higashi syndrome. Emmanuel U. Ukenenye 1325. content. Introduction Epidermiology Etiology Pathogenesis Clinical features Treatment. introduction.
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Chédiak-Higashi syndrome Emmanuel U. Ukenenye 1325
content • Introduction • Epidermiology • Etiology • Pathogenesis • Clinical features • Treatment
introduction • Chédiak-Higashi syndrome (CHS) is an uncommon childhood autosomal recessive disorder that affects multiple systems of the body characterized by abnormal intracellular protein transport • . CHS was described by Beguez Cesar in 1943, Steinbrinck in 1948, Cubanphysician MoisésChédiak in 1952, and Japanese pediatrician Otokata Higashi in 1954.
Epidermiology • United StatesChédiak-Higashi syndrome is rare.InternationalChédiak-Higashi syndrome is rare. • AgeSymptoms of Chédiak-Higashi syndrome usually appear soon after birth or in children younger than 5 years. • Race Chédiak-Higashi syndrome affects all races but may be underreported in persons of darker-skinned races
. Etiology • It is caused by mutationin CHS1orLYST gene and is localized to bands 1q42-43
Pathogenesis This mutation lead to a microtubular defect and intracellular trafficking in white blood cells. This leads to chINAB 1) Recurrent Infection: the idea here is due to impaired phagolysosomefussion. Infections most commonly involve the skin, the lungs, and the respiratory tract and are usually due to Staphylococcus aureus(most common), Streptococcus pyogenes, andPneumococcus species. Most patients also undergo an accelerated phase or accelerated reaction, which is a nonmalignant lymphohistiocyticlymphomalike infiltration of multiple organs that occurs in more than 80% of patients. This lymphomalike stage is precipitated by viruses, particularly by infection by the Epstein-Barr virus 2) Peripheral Neuropathy: here neurotransmitters and other substances are not being transmitted to the nerve terminal which may be at the peripheral body parts 3) Partial Albinism: due to poor distribution of melanin. Infants born with Chédiak-Higashi syndrome have nonpigmented skin (partial albinism), blonde hair, and blue eyes. 4)Bleeding: due to poor intracellular transport in platelet. Death often occurs in the first decade as a result of infection, bleeding, or development of the accelerated lymphomalike phase, but survival into the second and third decades has been reported.
Treatment • Bone marrow transplants appear to have been successful in several patients • Infections are treated with antibiotics and abscesses are surgically drained when appropriate
reference • www.thelancet.com/journals/lancet/article/PIIS0140.../abstrac • wikipedia.org/wiki/Chédiak–Higashi_syndrom