A Tunisian patient with CLCN2-related leukoencephalopathy

Dina Ben Mohamed; Zacharia Saied; Samia Ben Sassi; Mariem Ben Said; Fatma Nabli; Afef Achouri; Cyrine Jeridi; Saber Masmoudi; Rim Amouri

doi:10.1002/ccr3.6737

A Tunisian patient with CLCN2-related leukoencephalopathy

Clin Case Rep. 2022 Dec 26;10(12):e6737. doi: 10.1002/ccr3.6737. eCollection 2022 Dec.

Authors

Dina Ben Mohamed¹, Zacharia Saied¹, Samia Ben Sassi¹, Mariem Ben Said², Fatma Nabli¹, Afef Achouri¹, Cyrine Jeridi¹, Saber Masmoudi², Rim Amouri¹

Affiliations

¹ Molecular Neurobiology and Neuropathology Department National Institute Mongi Ben Hamida of Neurology La Rabta Tunisia.
² Laboratoire Procédés de Criblage Moléculaire et Cellulaire Centre de Biotechnologie de Sfax Sfax Tunisia.

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.

Keywords: CLCN2; CLCN2‐related leukoencephalopathy; MRI.

Publication types

Case Reports