Delayed diagnosis of pediatric Langerhans' cell histiocytosis: Case reportand retrospective review of pediatric cases seen at Mayo Clinic

Langerhans' cell histiocytosis is a disease of the dendritic histiocytes wi th a wide variety of clinical manifestations. This report describes a boy w ith Langerhans' cell histiocytosis who presented with primarily neurologic and endocrinologic findings, without pain. The diagnosis of Langerhans' cel l histiocytosis was not made until 10 years after symptom onset. The pathol ogy database at Mayo Clinic was searched for cases of Langerhans' cell hist iocytosis between 1985 and 1999 under 19 years of age (65 children), and in formation regarding clinical presentation was abstracted. Database review f ound a range of 1 day to 156 weeks (mean 13.8 weeks) from symptom onset to diagnosis. No other patients with primarily neurologic symptoms were found. The diagnosis of Langerhans' cell histiocytosis was made significantly soo ner after onset if pain was present (chi-square = 19.1, P < .001, two-taile d, phi coefficient 0.54). Our findings indicate that neurologic manifestati ons of Langerhans' cell histiocytosis are rare, and the combination of diab etes insipidus, ataxia, skin rash, or osseous pain should alert the clinici an to the possibility of Langerhans' cell histiocytosis and avoid delayed d iagnosis.