Leukoencephalopathy, Brain Calcifications, and Cysts

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OMIM 57 614561 MedGen 42 C3281200

SNOMED-CT via HPO 69 258211005 128613002 246545002 313307000 84757009 91175000 85102008 221360009 397790002 8011004 224958001 22325002 26079004 43378000 76349003 50582007 22811006 192781003 17944005 252157006 255314001 14648003 more UMLS 73 C3281200

OMIM : ⁵⁷ Leukoencephalopathy, brain calcifications, and cysts (LCC), also known as Labrune syndrome, is characterized by a constellation of features restricted to the central nervous system, including leukoencephalopathy, brain calcifications, and cysts, resulting in spasticity, dystonia, seizures, and cognitive decline (summary by Labrune et al., 1996). See also cerebroretinal microangiopathy with calcifications and cysts (CRMCC; 612199), an autosomal recessive disorder caused by mutation in the CTC1 gene (613129) that shows phenotypic similarities to Labrune syndrome. CRMCC includes the neurologic findings of intracranial calcifications, leukodystrophy, and brain cysts, but also includes retinal vascular abnormalities and other systemic manifestations, such as osteopenia with poor bone healing, a high risk of gastrointestinal bleeding, hair, skin, and nail changes, and anemia and thrombocytopenia. Although Coats plus syndrome and Labrune syndrome were initially thought to be manifestations of the same disorder, namely CRMCC, molecular evidence has excluded mutations in the CTC1 gene in patients with Labrune syndrome, suggesting that the 2 disorders are not allelic (Anderson et al., 2012; Polvi et al., 2012). (614561)

MalaCards based summary : Leukoencephalopathy, Brain Calcifications, and Cysts, also known as labrune syndrome, is related to lethal congenital contracture syndrome 1 and lethal congenital contracture syndrome, and has symptoms including ataxia, hemiplegia and muscle spasticity. An important gene associated with Leukoencephalopathy, Brain Calcifications, and Cysts is SNORD118 (Small Nucleolar RNA, C/D Box 118). Affiliated tissues include brain, skin and bone, and related phenotypes are seizures and ataxia

Clinical features from OMIM:

614561

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