GeneReviews(®)

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GeneReviews(®)

Book. 1993

Authors: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K

Abstract
CLINICAL CHARACTERISTICS: CLCN2-related leukoencephalopathy (CC2L) is characterized by nonspecific neurologic findings, mild visual impairment from chorioretinopathy or optic atrophy, male infertility, and characteristic findings on brain MRI. Neurologic findings include mild ataxia (action tremor and gait instability following initially normal motor development; occasionally mild spasticity), learning disabilities in some (ranging from mild to severe cognitive impairment), and headaches in some (usually intermittent, severe, and diffuse). Affected individuals remain ambulatory and do not require support for walking, and none has become blind. To date CC2L has been reported or identified in 16 individuals from 15 families. It is not yet known if the findings occurring in single individuals (i.e., vertigo, tinnitus, and progressive hearing loss; psychiatric symptoms; and paroxysmal kinesigenic dyskinesia) are part of the phenotypic spectrum or unrelated findings.
DIAGNOSIS/TESTING: The diagnosis of CC2L is established in a proband by identification of biallelic pathogenic variants in CLCN2 on molecular genetic testing.
MANAGEMENT: Treatment of manifestations: Supportive care including physical therapy and rehabilitation to improve motor function, special education as needed, treatment of headache, guidance for visual impairment. Surveillance: Annual: neurologic examination, ophthalmologic examination, and audiologic assessment Evaluation of relatives at risk: Presymptomatic diagnosis and treatment is warranted in older and younger sibs of a proband to identify those who would benefit from early diagnosis and routine surveillance for motor, cognitive, vision, and hearing impairment.
GENETIC COUNSELING: CC2L is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk family members and prenatal testing for pregnancies at increased risk are possible when the CLCN2 pathogenic variants in the family are known.

PMID: 26539602

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