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| chediak_higashi_syndrome [2025/02/25 04:09] – created Scott Larson | chediak_higashi_syndrome [2025/06/04 18:33] (current) – Scott Larson | ||
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| ====== Chediak-Higashi syndrome ====== | ====== Chediak-Higashi syndrome ====== | ||
| + | ====Main Features==== | ||
| + | * Oculocutaneous albinism | ||
| + | * varying degrees of pigmentation | ||
| + | * **Congenital Immunodeficiency** | ||
| + | * Recurrent pyogenic infections of skin and respiratory tract | ||
| + | * Bleeding Diathesis | ||
| + | * mucosal bleeding | ||
| + | * increased bruising | ||
| + | * Progressive Neurodegeneration | ||
| + | ====Eye Findings==== | ||
| + | * Reduced Pigment in Iris and Retina | ||
| + | ====Other Findings==== | ||
| + | * Hemophagocytic lymphohistiocytosis (HLH) | ||
| + | * potentially fatal inflammatory disorder characterized by: | ||
| + | * Fever | ||
| + | * cytopenia | ||
| + | * hepatosplenomegaly | ||
| + | * lymphadenopathy | ||
| + | * Learning disability | ||
| + | * Sensory motor neuropathy in 2nd or 3rd decade | ||
| + | * Cerebellar ataxia | ||
| + | * Parkinsonism | ||
| + | * Cerebellar and cerebral atrophy | ||
| + | * Spastic paraplegia | ||
| + | ====Etiology==== | ||
| + | * Autosomal Recessive | ||
| + | * Biallelic mutations in LYST gene- 1q42.3 | ||
| + | * lysosomal trafficking function | ||
| + | ====Pathology==== | ||
| + | * Giant inclusions in the cytoplasm of leukocytes ⇒ pathognomonic | ||
| + | * reduced leukocyte function | ||
| + | * neutropenia possible | ||
| + | * decreased natural killer cells | ||
| + | * Platelet number usually normal but absent platelet dense granules | ||
| + | ====Treatment==== | ||
| + | * Steroids and chemotherapy | ||
| + | * Hematopoietic stem cell transplantation (HSCT) | ||
| + | ====Reference==== | ||
| + | - [[https:// | ||
| + | {{tag> | ||