Tag: Developmental delay
Spielmeyer-Vogt Disease
Spielmeyer-Vogt Disease: Definition and Description of Spielmeyer-Vogt Disease: Spielmeyer-Vogt Disease, also known as neuronal ceroid lipofuscinosis type 1 (NCL1), is a rare inherited neurodegenerative disorder. It primarily affects children and is characterized by the progressive loss of vision, intellectual decline, and other neurological symptoms. The disease falls under the family of lysosomal storage diseases, where…
Galactocerebrosidase Deficiency
Galactocerebrosidase Deficiency Definition and Description of Galactocerebrosidase Deficiency Galactocerebrosidase Deficiency, also known as Krabbe disease, is a rare genetic disorder that affects the nervous system. It is caused by a deficiency of the enzyme galactocerebrosidase, which is vital for the breakdown of specific fats in the brain and other tissues. This deficiency leads to the…
Expanded Rubella Syndrome
Expanded Rubella Syndrome Definition and Description of Expanded Rubella Syndrome Expanded Rubella Syndrome (ERS) refers to a group of congenital defects caused by rubella infection during the first trimester of pregnancy. It is characterized by a set of symptoms affecting multiple organ systems, which can include cardiovascular issues, ophthalmologic abnormalities, and hearing impairments. Medically, ERS…