Report co-author Dr Helen Leonard, who heads the Australian Rett Syndrome Study at the Telethon Institute for Child Health Research, says the finding means that testing for the genetic disorder should be considered in some baby boys who develop progressive serious neurological problems.
"The common thinking in the past had been that Rett syndrome only affects girls, and that the genetic flaw would be so serious in boys that they would die before birth," Dr Leonard said.
"Worldwide there have only been 11 previously established cases in boys who have presented early in life with a severe clinical picture of progressive neurological decline and breathing abnormalities starting soon after birth. All but two had a family history of a girl in the family with Rett syndrome. This study has confirmed a further four cases with no family history."
The study, published in the international journal Neurology, was a collaborative effort between researchers from Australia and the United States.
"Genetic testing is used to diagnose Rett syndrome in girls who present with typical symptoms after the age of one year. Prenatal diagnosis is also available in subsequent pregnancies for mothers of girls with Rett syndrome but beyond these families, doctors generally wouldn't test for the problem -- especially in baby boys," Dr Leonard said.
"It is likely that some baby boys with early severe progressive encephalopathy could go undiagnosed and we encourage paediatricians to think about this as a possible cause of severe neurological abnormalities."