First described in the 1500 s,
scurvy is infrequently seen in industrialized countries today, although vulnerable patient groups remain. A 15-yr-old girl underwent
liver transplantation at age 26 months for a primary diagnosis of biliary hypoplasia, and subsequently developed late allograft failure and progressive
renal insufficiency culminating in listing for combined liver retransplantation and
kidney transplantation at age 13 yr. She required regular
hemodialysis treatment for 12 months prior to deceased donor organ availability, with a complicated
clinical course including recurrent septic episodes and severe
cachexia. Ten months after initiation of
hemodialysis, she presented with severe bone
pain,
purpura,
ecchymoses,
gingival hyperplasia, mucosal
bleeding, and subconjunctival
hemorrhages. Serial serum
ascorbic acid levels were found to be extremely low (<10 micromol/L) despite routine supplementation both in her
dialysate and via regular oral supplementation. Histopathology from skin biopsy revealed
purpura, hyper- and
parakeratosis, and follicular plugging. She had ECG and 2D echocardiogram disturbances, as well as
osteopenia and
sclerosis of the extremities on radiological evaluations.
Therapy with high-dose
ascorbic acid (1 g/day orally) led to complete resolution of skin lesions. This case highlights the importance of awareness and recognition of this historic diagnosis, and particularly in children with end-stage organ disease with severely compromised nutrition.