Tag: neurological symptoms

  • Galactocerebrosidase (GALC) Deficiency

    Galactocerebrosidase (GALC) Deficiency Definition and Description of Galactocerebrosidase (GALC) Deficiency Galactocerebrosidase (GALC) deficiency is a rare inherited metabolic disorder characterized by the deficiency of the galactocerebrosidase enzyme. This enzyme is essential for the breakdown of galactolipids, which are crucial components of myelin, the protective sheath that surrounds nerve fibers in the central nervous system. The…

  • Galactocerebroside Beta-Galactosidase Deficiency

    Galactocerebroside Beta-Galactosidase Deficiency Galactocerebroside Beta-Galactosidase Deficiency Definition and Description of Galactocerebroside Beta-Galactosidase Deficiency Galactocerebroside Beta-Galactosidase Deficiency, also known as Krabbe disease, is a rare genetic disorder that primarily affects the nervous system. This condition is characterized by the deficiency of the enzyme galactocerebrosidase (GALC), responsible for breaking down galactolipids in the myelin sheath. Without this…

  • Familial Alobar Holoprosencephaly

    Familial Alobar Holoprosencephaly Definition and Description of Familial Alobar Holoprosencephaly Familial Alobar Holoprosencephaly is a severe form of holoprosencephaly—a brain malformation that occurs when the forebrain does not properly separate into the two hemispheres. This condition is characterized by significant developmental issues which stem from improper formation of the brain and facial features. Individuals suffering…

  • Familial Chordoma

    Familial Chordoma Definition and Description of Familial Chordoma Familial Chordoma is a rare type of bone tumor that primarily develops along the spine and base of the skull. It arises from notochordal remnants, which are embryonic structures that eventually form the spinal column. Familial Chordoma is characterized by its hereditary nature, often occurring in families…

  • Empty Sella Syndrome

    Empty Sella Syndrome Definition and Description of Empty Sella Syndrome Empty Sella Syndrome (ESS) is a medical condition characterized by the presence of an empty sella turcica, a small cavity at the base of the skull that normally houses the pituitary gland. In this syndrome, the sella turcica appears to be filled with cerebrospinal fluid…

  • Dysmyelogenic Leukodystrophy

    Dysmyelogenic Leukodystrophy Definition and Description of Dysmyelogenic Leukodystrophy Dysmyelogenic Leukodystrophy is a rare neurodegenerative disorder characterized by abnormal development or maintenance of myelin, the protective sheath surrounding nerve fibers in the central nervous system. This dysfunction affects the brain’s ability to transmit signals efficiently, leading to a range of neurological impairments. The condition is typically…

  • Chiari-Budd Syndrome

    Chiari-Budd Syndrome Definition and Description of Chiari-Budd Syndrome Chiari-Budd Syndrome is a rare medical condition characterized by a combination of Chiari malformation, which involves abnormalities of the cerebellum, and Budd-Chiari syndrome, a blockage of the hepatic veins that leads to liver problems. This syndrome primarily affects the central nervous system and the liver, causing a…

  • Arteriovenous Malformation

    Arteriovenous Malformation Definition and Description of Arteriovenous Malformation Arteriovenous malformation (AVM) is a rare vascular condition characterized by an abnormal tangle of blood vessels connecting arteries and veins. In a healthy circulatory system, arteries transport oxygen-rich blood from the heart to various parts of the body, while veins return oxygen-poor blood to the heart. In…

  • Arachnitis

    Arachnitis Definition and Description of Arachnitis Arachnitis, a term derived from the Greek word ‘arachne’, which means spider, refers to inflammation of the arachnoid mater, one of the membranes surrounding the brain and spinal cord. This condition can lead to various neurological symptoms and is often associated with other medical conditions such as infections, autoimmune…

  • Arachnoidal Fibroblastoma

    Arachnoidal Fibroblastoma Definition and Description of Arachnoidal Fibroblastoma Arachnoidal fibroblastoma is a rare type of tumor that occurs in the arachnoid membrane, one of the three membranes that envelop the brain and spinal cord. This tumor is characterized by the proliferation of fibroblasts within the arachnoid layer, leading to the formation of a localized mass.…