Neurofibromatosis and cystic fibrosis: a case report
Rubio-González, T.; Alvarez-Valiente, H.
Revista de Neurologia 29(7): 604-606
1999
ISSN/ISBN: 0210-0010 PMID: 10599105 Document Number: 498610
We present the case of a patient attended in the Clinical Genetics Department of the Hospital Infantil Sur in Santiago de Cuba, who had 'café au lait' stains and persistent respiratory symptoms. 'Café au lait' stains were also found on the skin of the patient's mother, on clinical examination. No other members of the family were affected. Laboratory studies showed that both mother and son had positive sweat tests. PCR molecular study showed the patient to be homozygotic delta F508/delta F508 for the cystic fibrosis gene and both his parents to be delta F508 carriers. In this case there was a coincidence of two disorders of monogenic aetiology: neurofibromatosis and cystic fibrosis.