Unraveling Labrune Syndrome: A Case Report on the Neurological Phenotype in SNORD118-Negative Patients.

Autor:	Rohatgi SJ; Neurology, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Pune, IND., Nimal SR; Neurology, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Pune, IND., Nirhale SP; Neurology, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Pune, IND., Rao PM; Neurology, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Pune, IND., Naphade PU; Neurology, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Pune, IND.
Jazyk:	angličtina
Zdroj:	Cureus [Cureus] 2024 Jun 09; Vol. 16 (6), pp. e62029. Date of Electronic Publication: 2024 Jun 09 (Print Publication: 2024).
DOI:	10.7759/cureus.62029
Abstrakt:	Labrune syndrome is a rare neurogenetic disorder with varied presentations. Here, we report the case of a 53-year-old male who presented with seizures, gait imbalance, and upper limb tremors for two years. Imaging studies revealed extensive leukodystrophy, multiple cerebral calcifications, and cystic lesions characteristic of Labrune syndrome. However, whole exome sequencing did not detect the SNORD118 mutation, typically associated with Labrune syndrome. Although the SNORD118 mutation is commonly found in Labrune syndrome, a few cases of the syndrome without this mutation have also been reported. This suggests the possibility that other yet undiscovered mutations may cause the same phenotype. Competing Interests: Human subjects: All authors have confirmed that this study did not involve human participants or tissue. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work. (Copyright © 2024, Rohatgi et al.)
Databáze:	MEDLINE
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