| Autor: |
Dina Ben Mohamed, Zacharia Saied, Samia Ben Sassi, Mariem Ben Said, Fatma Nabli, Afef Achouri, Cyrine Jeridi, Saber Masmoudi, Rim Amouri |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
|
| Zdroj: |
Clinical Case Reports, Vol 10, Iss 12, Pp n/a-n/a (2022) |
| Druh dokumentu: |
article |
| ISSN: |
2050-0904 |
| DOI: |
10.1002/ccr3.6737 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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