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A Tunisian patient with CLCN2-related leukoencephalopathy.

ABSTRACT: CLCN2-related leukoencephalopathy (CC2L OMIM#: 615651) is a recently identified rare disorder. It is caused by autosomal recessive mutations in the CLCN2 gene and leads to the dysfunction of its encoded CLC-2 chloride channel protein with characteristic brain MRI features of leukoencephalopathy. We report the first Tunisian patient with clinical features of ClCN-2-related leukoencephalopathy. A 54-year-old female with a family history of leukemia, male infertility, motor disability, and headaches who initially presented with a tension-type headache and normal physical examination. At the follow-up, she developed mild gait ataxia and psycho-cognitive disturbances. A previously reported homozygous NM_004366.6(CLCN2):c.1709G > A (p.Trp570Ter) stop gained mutation was identified. This report expands the knowledge related to CC2L and highlights the clinical features in affected individuals of African descent.

SUBMITTER: Ben Mohamed D

PROVIDER: S-EPMC9792646 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature

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A Tunisian patient with CLCN2-related leukoencephalopathy.

Ben Mohamed Dina D Saied Zacharia Z Ben Sassi Samia S Ben Said Mariem M Nabli Fatma F Achouri Afef A Jeridi Cyrine C Masmoudi Saber S Amouri Rim R

Clinical case reports 20221226 12

CLCN2-related leukoencephalopathy (CC2L OMIM#: 615651) is a recently identified rare disorder. It is caused by autosomal recessive mutations in the CLCN2 gene and leads to the dysfunction of its encoded CLC-2 chloride channel protein with characteristic brain MRI features of leukoencephalopathy. We report the first Tunisian patient with clinical features of ClCN-2-related leukoencephalopathy. A 54-year-old female with a family history of leukemia, male infertility, motor disability, and h ...[more]

PMID: 36583195

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| S-EPMC9984871 | biostudies-literature

Case report: A frameshift mutation in CLCN2-related leukoencephalopathy and retinopathy.

Project description:Background: Leukoencephalopathy and visual impairment have been linked to loss-of-function mutations in the CLCN2 gene (MIM #600570). However, the ocular features caused by the CLCN2 mutations remain poorly understood and seldom reported. This study aims to present a novel mutation and characterize the ocular phenotype in a Chinese female diagnosed with CLCN2-related leukoencephalopathy (CC2L), also known as leukoencephalopathy with ataxia (LKPAT; MIM #615651). Case presentation: A 20-year-old Chinese female presented with bilateral blurred vision persisting for 2 years, which had worsened over the past 6 months. Ophthalmologic examination revealed bilateral post-capsular cataracts, macular retinal atrophy, and peripheral retinal pigmentation. Swept-source optical coherence tomography (SS-OCT) showed bilateral choroidal capillary atrophy, loss of the outer retinal layer, and a novel noteworthy sign of vacuole-like vitreoretinopathy. Cranial magnetic resonance imaging confirmed leukoencephalopathy. Genetic testing identified a novel homozygous pathogenic c.1382_1386del (p.P461Lfs*13) mutation in exon 13 of the CLCN2 gene. Conclusion: This case report expands the knowledge of CLCN2 mutations and their associated ocular manifestations in patients with CC2L. The identified ophthalmic features may serve as crucial indicators for early diagnosis in individuals with CC2L, especially in the absence of evident neurological symptoms.

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