congenital leukocyte dysgranulosis syndrome
Introduction
Introduction to congenital leukocyte granule abnormal syndrome Congenital leukocyte granule abnormality syndrome, also known as Chee-East syndrome, was discovered by Chediak and Higashi in 1952 and 1954 respectively, hence the name Chediak-Higashi syndrome. There are currently about 200 cases. basic knowledge Sickness ratio: 0.0001% Susceptible people: offspring of close relatives Mode of infection: non-infectious Complications: lymphoma, malignant lymphoma
Cause
Causes of congenital leukocyte granule abnormality syndrome
(1) Causes of the disease
The disease is a congenital lysosomal abnormality and belongs to autosomal recessive inheritance.
(two) pathogenesis
The pathogenesis is not well understood. Recently, the gene of this syndrome has been identified and located in the chromosome 1q42-43 region. Patients with low neutrophil counts and dysfunction, chemical chemotaxis and intracellular bactericidal power are also low, resulting in repeated severe suppurative infections.
Prevention
Prevention of congenital leukocyte granule abnormality syndrome
Avoid the intensity of sun exposure, and expose the area to the sunscreen ointment. To prevent the occurrence of skin malignant tumors. Eye protection is more important, usually wear protective glasses.
Complication
Complications of congenital leukocyte granule syndrome Complications lymphoma malignant lymphoma
Liver, spleen, lymph node enlargement; may be associated with central and peripheral neuropathy and diffuse malignant lymphoma.
Symptom
Symptoms of congenital leukocyte granule syndrome Syndrome Common symptoms Dreaded freckles, tears, repeated infection, lymphadenopathy, iris, heterochromia, nystagmus, strabismus
Patients are more common in the offspring of close relatives. The main manifestations are pigment deficiency, reduction of pigmentation of the eye pigment layer and fundus, redness of the pupils of both eyes, transparent or pink iris, and loss of pigmentation of the choroid. Patients are afraid of light, easy to cry, often have nystagmus. Part of the skin, hair whitening, the whole body skin is pinkish white, pink, all the hair is white or light yellow filamentous, like pseudo-albino. Skin is sensitive to light, easy to sunburn and sun dermatitis, solar cheilitis, solar keratosis, skin horns and flocks of freckle-like pigmentation spots, sometimes malignant, basal cell carcinoma or squamous cell carcinoma . It is easy to recurrent serious respiratory and skin bacterial infections, such as Staphylococcus aureus, Streptococcus, pneumococcal infections; liver, spleen and lymph nodes; may be associated with central and peripheral neuropathy and diffuse malignant lymphoma. Patients often die before the age of 5 due to repeated infections and malignant tumors.
In all types of OCA and OA, characteristic changes in the formation and function of the eye and ocular nerves include: nystagmus, iris pigmentation with vitreous opacity, iris translucency, retinal melanin reduction with macular dysplasia, and visual acuity Reduced, mis-transmission of the optic nerve signal. Changes in the visual system of albinism include: reduction of iris pigmentation, reduction of retinal pigmentation, macular hypoplasia, miscarriage of optic nerve signals at the optic chiasm, nystagmus, and cross strabismus.
Most of the patients develop poorly, have small physique, poor mental development, weak fertility and short life span.
Examine
Examination of congenital leukocyte abnormality syndrome
The child has neutropenia and abnormal intracellular lysosomes. Leukocyte chemotaxis, phagocytosis and bactericidal function defects, advanced patients can be reduced by whole blood cells, leukocyte peroxidase staining positive. Large peroxidase-positive azuramide blue particles are easily detected in the cytoplasm of neutrophils, monocytes, and lymphocytes in children with diagnostic significance.
Histopathology: The number and morphology of epidermal melanocytes were normal, but silver staining lacked melanin. Under the electron microscope, only pigment cells were observed without mature pigment particles.
Diagnosis
Diagnosis and diagnosis of congenital leukocyte particle abnormal syndrome
diagnosis
Diagnosis is based on clinical manifestations.
Differential diagnosis
1. Vitiligo is an acquired skin leukoplakia that does not affect the eyes.
2. No pigmentation is often distributed along the nerve segment, unilateral, no genetic factors
3. Identification with other types of albinism, the latter without ocular pigmentation defects, only the skin becomes white.
