Infantile spinocerebellar ataxia type 7: Case report and a review of the literature

•Infantile SCA7 resembles disorders like the neuronal ceroid lipofuscinosis.•Massive CAG repeat expansions of infantile SCA7 are usually paternally transmitted.•Retinal degeneration may not be evident at presentation of infantile SCA7.•Infantile SCA7 pathology is widespread, including organs outside the CNS.•Proper techniques (TP-PCR) should be applied when large expanded CAGs are suspected.