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Papers of the Week

2022 Dec

Clin Case Rep



A Tunisian patient with CLCN2-related leukoencephalopathy.


Ben Mohamed D, Saied Z, Ben Sassi S, Ben Said M, Nabli F, Achouri A, Jeridi C, Masmoudi S, Amouri R
Clin Case Rep. 2022 Dec; 10(12):e6737.
PMID: 36583195.


CLCN2-related leukoencephalopathy (CC2L OMIM#: 615651) is a recently identified rare disorder. It is caused by autosomal recessive mutations in the 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.