Leukoencephalopathy, Brain Calcifications, and Cysts (LCC)

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OMIM 56 614561 Orphanet 58 ORPHA542310 MedGen 41 C3281200

SNOMED-CT via HPO 68 128613002 14648003 17944005 192781003 221360009 22325002 224958001 22811006 246545002 252157006 255314001 258211005 26079004 313307000 397790002 43378000 50582007 76349003 8011004 84757009 85102008 91175000 more UMLS 71 C3281200

OMIM : ⁵⁶ 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 cerebroretinal microangiopathy with calcifications and cysts 1, and has symptoms including seizures, ataxia and tremor. An important gene associated with Leukoencephalopathy, Brain Calcifications, and Cysts is SNORD118 (Small Nucleolar RNA, C/D Box 118). Affiliated tissues include brain, bone and skin, and related phenotypes are global developmental delay and gait disturbance

Clinical features from OMIM:

614561

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