A combination of hearing impairment and recurrent infections due to XLA in a male patient should elicit sequencing of the TIMM8A gene. Neuroimaging is employed to verify the presence of cerebral atrophy. In cases of suspected CGS; testing for XLA is possible. Differential diagnosis This is long and includes * Arts syndrome * Autosomal recessive nonsyndromic sensorineural deafness type DFNB * Friedreich ataxia * MELAS syndrome * Mitochondrial DNA depletion syndrome (encephalomyopathic form with methylmalonic aciduria) * McLeod neuroacanthocytosis syndrome * Pendred syndrome * Usher syndrome type 1 and 2 * Wolfram syndrome * X-linked spinocerebellar ataxia type 3 and 4
Mohr–Tranebjærg syndrome
Melkersson–Rosenthal syndrome
Sensenbrenner syndrome
Dahlberg Borer Newcomer syndrome
Juberg-Hayward syndrome
Gougerot–Blum syndrome
Rosenthal–Kloepfer syndrome
König's syndrome