A Rare Neurologic Disease that Mimics Cranial Hydatid Cyst: Leukoencephalopathy, Cerebral Calcifications, and Cysts.
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DOI: 10.1097/scs.0000000000006407
Abstract: A 33-year-old male patient was admitted to the clinic with seizures and progressive neurologic symptoms. In the family history of the patient, a first degree relative had a history of hydatid cyst surgery. Cranial computed… read more here.
Keywords: neurologic disease; calcifications cysts; rare neurologic; cyst ... See more keywords
Systemic involvement in adult‐onset leukoencephalopathy with intracranial calcifications and cysts (Labrune syndrome) with a novel mutation of the SNORD118 gene
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DOI: 10.1111/ene.14313
Abstract: Although Labrune syndrome is a well‐known disorder characterized by a typical neuroradiological triad, namely leukoencephalopathy, intracranial calcifications and cysts, there are no reports of systemic involvement in this disorder. This paper attempts to describe a… read more here.
Keywords: novel mutation; systemic involvement; leukoencephalopathy intracranial; labrune syndrome ... See more keywords
Coats plus syndrome (cerebroretinal microangiopathy with calcifications and cysts‐1): A case report
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DOI: 10.1111/pde.14366
Abstract: We present a 6‐year‐old girl with skin hyperpigmentation, leukoplakia, and onychodystrophy, the classic mucocutaneous triad usually associated with dyskeratosis congenita. The patient also had premature graying of the hair, bone marrow failure, hepatitis, exudative retinopathy,… read more here.
Keywords: syndrome cerebroretinal; coats plus; plus syndrome; microangiopathy calcifications ... See more keywords
Cerebral Microangiopathy in Leukoencephalopathy With Cerebral Calcifications and Cysts: A Pathological Description
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DOI: 10.1177/0883073820958330
Abstract: Leukoencephalopathy with calcifications and cysts (LCC) is a neurological syndrome recently associated with pathogenic variants in SNORD118. We report autopsy neuropathological findings from an individual with genetically confirmed LCC. Histologic studies included staining of formalin-fixed… read more here.
Keywords: cerebral microangiopathy; cerebral calcifications; microangiopathy leukoencephalopathy; calcifications cysts ... See more keywords
Case Report: Clinical Features of Childhood Leukoencephalopathy With Cerebral Calcifications and Cysts Due to SNORD118 Variants
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DOI: 10.3389/fneur.2021.585606
Abstract: Background: Leukoencephalopathy with cerebral calcifications and cysts (LCC) is a rare autosomal recessive cerebral microangiopathy. Recently, biallelic variants in a non-protein-coding gene SNORD118 have been discovered to cause LCC. Case Presentation: We here report a… read more here.
Keywords: cerebral calcifications; case; calcifications cysts; leukoencephalopathy cerebral ... See more keywords
Leukoencephalopathy with Calcifications and Cysts—The First Polish Patient with Labrune Syndrome
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DOI: 10.3390/brainsci10110869
Abstract: Leukoencephalopathy with calcifications and cysts (LCC) is a triad of neuroradiological symptoms characteristic of Labrune syndrome, which was first described in 1996. For 20 years, the diagnosis was only based on clinical, neuroradiological and histopathological… read more here.
Keywords: first polish; leukoencephalopathy calcifications; cysts first; labrune syndrome ... See more keywords