"T1: hypointense"
"T2/FLAIR: hyperintense"
"DWI/ADC: true diffusion restriction (high diffusion signal and low ADC values) in some regions with abnormal T2/FLAIR signal, which may be more prominent in younger patients"
"T1 C+ (Gd): no contrast enhancement"
"CLCN2-related leukoencephalopathy, also known as leukoencephalopathy with ataxia, is a rare leukodystrophy characterised by mild and slowly progressive ataxia and distinct abnormalities on MRI brain."
"The incidence and prevalence of CLCN2-related leukoencephalopathy is not known, but it is widely thought to be very rare 1,2. Among affected patients, a family history of consanguinity may be present 1,2."
"CLCN2-related leukoencephalopathy is an autosomal recessive condition caused by a loss of function mutation to CLCN2 on chromosome 3q27 1. This gene encodes for the voltage-gated chloride channel CLC-2, which normally has an important role in ion and water homoeostasis 1-4."
"Loss of function mutation in CLCN2 results in dysfunction in CLC-2, which results in altered ion and water homoeostasis 1-4. This leads to myelin oedema and microvacuolisation, likely explaining the observed abnormalities on MRI brain 1-5. A variety of different mutations have been described as pathogenic, with nonsense and missense mutations being most implicated 1,2."
"Notably, there is poor genotype-phenotype correlation among patients with CLCN2-related leukoencephalopathy 2. For example, patients with the same genetic mutation can have vastly different clinical phenotypes, including different clinical features and ages of onset 2."
"No disease-modifying therapy is available, and thus management is essentially supportive in nature (e.g. antiseizure medications) 1,6. Overall, prognosis is good and there have been no deaths directly related to complications arising from CLCN2-related leukoencephalopathy 1."
"CLCN2-related leukoencephalopathy was first described in 2013 3."