About The Medical Condition Cholesterol Lipidosis, Neuronal
Find the definition of the medical term Cholesterol Lipidosis, Neuronal. Cholesterol Lipidosis, Neuronal defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Cholesterol Lipidosis, Neuronal
| Cholesterol Lipidosis, Neuronal Medical Condition |
|---|
What's The Definition Of The Medical Condition Cholesterol Lipidosis, Neuronal?
A group of diseases marked by autosomal recessive inheritance and accumulation of sphingomyelin in cells of the RETICULOENDOTHELIAL SYSTEM. They are divided into 5 subtypes: A-E. Type A (classic infantile form) is caused by a deficiency of SPHINGOMYELIN PHOSPHODIESTERASE and presents at age 6-12 months with progressive hepatosplenomegaly and neurologic deterioration. Type B (non-neuronopathic form) presents in childhood with hepatosplenomegaly and pulmonary infiltrates. Type C (chronic neuronopathic form) is caused by defective intracellular cholesterol transport and is divided into severe infantile, late infantile, juvenile, and neonatal hepatitis forms. Type D (Nova Scotian Variant) is phenotypically similar to type C. Type E is an adult non-neuronopathic form. (From Menkes, Textbook of Child Neurology, 5th ed, pp101-4)
|
More Medical Conditions
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
Medical Conditions Definitions Of The Day
- Woman Rights ‐ The rights of women to equal status pertaining to social, economic,…
- Neurotheceomas ‐ A benign myxoma of cutaneous nerve sheath origin. Theke is from…
- Atrial Natriuretic Factor Receptors ‐ Cell surface proteins that bind atrial natriuretic factor with…
- Estrone, (+-)-Isomer ‐ A metabolite of estradiol but possessing less biological activity.…
- Television ‐ The transmission and reproduction of transient images of fixed…
- Abnormalities, Musculoskeletal ‐ Congenital structural abnormalities and deformities of the musculoskeletal…
- Juvenile Periodontitis ‐ Localized periodontitis in teenagers and young adults. The onset…
- Mammoplasties ‐ Surgical reconstruction of the breast including both augmentation…
- Gamma-Tocopherol ‐ A natural tocopherol with less antioxidant activity than ALPHA-TOCOPHEROL.…
- PGE1 ‐ A potent vasodilator agent that increases peripheral blood flow.…