Oct 2026· Neurological Sciences· Vol 47· 0 citations· 17 references
Medicine
TL;DR
A 34-year-old man with genetically confirmed CTX who presented with progressive gait instability, dysarthria, dysphagia, and cognitive impairment is reported, highlighting the importance of recognizing multisystem manifestations of CTX for early diagnosis and timely CDCA therapy.
Background Labrune syndrome, also termed leukoencephalopathy with calcifications and cysts (LCC), is a rare autosomal recessive cerebral microangiopathy associated with pathogenic variants of the SNORD118 gene. Long-term clinical follow-up of childhood-onset LCC progressing into adulthood is limited in the literature....
Di Tian, Bin Chen, Wei Li et al.· Frontiers in Neuroscience· 0 citations
It is suggested that calcium-phosphate metabolism and parathyroid hormone levels should be assessed in adults presenting with symmetrical intracranial calcifications, seizures, or cognitive impairment, and genetic testing may further support early diagnosis and help reduce misdiagnosis.
Dai-Ping Hua, Shang Xiang, Xian-Feng Yu et al.· Frontiers in Endocrinology· 0 citations
This case represents an unusual presentation of pseudohypoparathyroidism in childhood, in which long-standing focal epilepsy and extensive intracranial calcifications constituted the predominant manifestations, in the absence of the classic phenotypic features of Albright hereditary osteodystrophy.
M. D. de Araújo, Raissa Josefa Pereira de Moura, M. D. de Araújo et al.· ANPAbstract_CBN26· 0 citations
Ataxia-telangiectasia (A-T) is a rare autosomal recessive multisystem disorder caused by biallelic pathogenic variants in the *ATM* gene. It is characterized by progressive cerebellar ataxia, oculomotor abnormalities, immunodeficiency, telangiectasia, increased susceptibility to malignancy, and progressive neurological...
Mohammad Mohi Uddin, Leenah Mohiuddin, Rida Rizwan et al.· Adolescência e Saúde· 0 citations
Three patients with ATP1A3 variants who presented with initial acute encephalopathy, an unusual presentation, are described to draw clinicians' attention to this lesser-known clinical presentation.
C. Glasson, M. Gibaud, Marie Alesandrini et al.· Archives de pédiatrie· 0 citations
Alexander disease (AxD) is a rare autosomal dominant leukodystrophy due to pathogenic variants in glial fibrillary acidic protein (GFAP). Adult-onset AxD type II presents with heterogeneous neurologic and neuropsychiatric symptoms. We report a unique case diagnosed in the postpartum period that mimicked posterior rever...
Nil Saez-Calveras, Kristen Warncke, Jessica Schnorr et al.· The Neurohospitalist· 0 citations
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