A 14 Year Diagnostic Delay of Neurofibromatosis Type 1 in a Patient with Hypertension and Leukemia: A Case Report

Background: Neurofibromatosis Type 1 (NF1) is an autosomal dominant neurocutaneous disorder. Renal complications include renovascular hypertension. We report a case diagnosed in a nephrology setting after a 14 year delay.

Case presentation: A 27 year old woman with severe hypertension, acute myeloid leukemia (treated with bone marrow transplantation), and chronic graft versus host disease was admitted for acute pyelonephritis. Physical examination revealed multiple café au lait spots, axillary freckling, and cutaneous neurofibromas, leading to a clinical diagnosis of NF1 based on NIH criteria. Renal artery Doppler was normal. Renal function normalized after antibiotics and hydration.

Conclusion: This case highlights that NF1 can remain undiagnosed for years in patients with complex medical histories. A thorough physical examination by a nephrologist can identify NF1 and guide appropriate multidisciplinary surveillance.