CACH syndrome

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Synonyms: Childhood ataxia with diffuse central nervous system hypomyelination | Leukoencephalopathy with vanishing white matter | Myelinosis centralis diffusa

A new leukoencephalopathy the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically this disease is characterized by (1) an onset between 2 and 5 years of age with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation) (3) a recessive autosomal mode of inheritance (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes “foamy” aspect.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

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Advocacy Organizations

Aicardi-Goutieres Syndrome Advocacy Association

AGSAA is a global coalition of deeply dedicated parent advocates working alongside clinicians, researchers, and scientists. We are united in our desire to improve the lives of individuals and families living with Aicardi-Goutières Syndrome and those yet to be diagnosed. Everything we do reflects a sense of urgency to rescue patient potential and preserve quality of life through accelerating research and providing timely emotional and educational support alongside evolving clinical care recommendations to affected families.

VWM Families Foundation Inc.

Vanishing White Matter disease (VWM) is a very rare neurological condition that destroys myelin, the brain’s white matter. In doing so, it permanently affects transmission of brain signals to the rest of the body. VWM primarily affects children and is untreatable, incurable and terminal. In 2016, the VWM Families Foundation was formed to raise awareness of VWM, to raise money for research and to

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Clinical Trials

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