A child with no personal or family history of disease had the diagnosis of NF-1 established since she was 2 years old.
At the age of six she presented fever, choluria, acholuria, anorexia, and increased transaminase levels, reaching values of 1,000 U/l; she improved within a few days.
A similar episode occurred at 10 years of age.
At 12 years old, he was admitted to our Pediatric Gastroenterology Service for investigation of liver disease.
Physical examination revealed diffuse café-au-lait spots in the abdomen, back, armpits (about 7 lesions > 15 mm), and axillary epheloids.
There were papules suggestive of neurofibromas in the trunk, right retroauricular region and scalp, bilateral lumbosacra tumoral formations (left arm plexiform neurofibroma) and hemiparesis.
He did not have jaundice and liver and spleen were not palpable.
Clinical follow-up revealed fluctuation in serum transaminase levels, reaching 6 times the reference value, and a 1.5-fold increase in gamma-GT levels.
Laboratory data: normal INR and albumin, serology for viral hepatitis (-), SMA (-), ANA (-), AMA (-), anti-LKM1 (-), serum copper 8.5 mcg/urine
Kayser-Fleischer ring was absent.
Ultrasound and abdominal magnetic resonance cholangiography were normal.
Liver histology can be seen in figures 1 A-C.
After a positive urine test for D-penicillins (baseline urinary excretion = 229 mcg/24 hours, after stimulation = 1.07 mcg/24 hours), treatment with copper chelating agent was started, with notable improvement.
The patient is currently 20 years old, clinically well and has no symptoms.
He never manifested neurological symptoms, nor did he develop any neoplasia.
