Hypomelanosis of Ito is an uncommon neuroectodermal disease associated with a wide range of cytogenetic abnormalities. Ring chromosome 20 is a rare chromosomal disorder characterized by severe, refractory epilepsy, cognitive delay, and unspecific dysmorphic traits. An association between the hypomelanosis of Ito and ring chromosome 20 syndrome was never reported peviously. We describe a young girl who has ring chromosome 20 and who also has clinical symptoms of hypomelanosis of Ito. After her diagnosis of epilepsy, she was submitted to neurologic and genetic testing, a skin biopsy, and repeated neuropsychologic examinations. Karyotyping revealed a 46 XX, r(20) with mosaicism in 34% of peripheral blood lymphocytes and 8% of skin fibroblasts. A severe, progressive cognitive deterioration was evident. The epilepsy was refractory to antiepileptic drugs, in apparent contrast with the evidence that both telomeric regions were preserved. The percentage of mosaicism seems unrelated to the severity of the clinical phenotype.
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