Leukoencephalopathy with bilateral anterior temporal lobe cysts
A rare nonprogressive neurological disorder marked by intellectual deficit spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024
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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.
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
OUR MISSION is to provide support to the leukodystrophy community and enable platforms to accelerate improving patient quality of life and finding cures.
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Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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