[Neurofibromatosis and cystic fibrosis: a case report].

INTRODUCTION AND CLINICAL CASE: 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.

CONCLUSION

In this case there was a coincidence of two disorders of monogenic aetiology: neurofibromatosis and cystic fibrosis.