The purpose of this study is to report a unique overgrowth syndrome and discuss the insights into the complex orthopaedic management. Written consent to report this case was granted. The patient's condition, wrongly diagnosed as Proteus syndrome, is characterised by a genetic mutation in PIK3CA, a critical regulator of cell growth. This lead to unregulated cellular division of fibroblasts isolated to the lower limbs. The legs weighed 117 kg, with a circumference of >110 cm. In addition to lower limb overgrowth, numerous musculoskeletal and organ pathologies have been encountered since birth requiring treatment from a wide variety of healthcare specialists and basic scientists. At 32 years, the patient developed septicaemia secondary to an infected foot ulcer. Amputation had been discussed in the elective setting, however the presence of sepsis expedited surgery. The above knee amputation took 9 hours and four assistants including a plastic surgeon. A difficult dissection revealed a deep subcutaneous fatty layer that integrated with deep muscle, massive hypertrophy of cutaneous nerves and the sciatic nerve and ossification within the distal quarter of the quadriceps muscles requiring osteotomy. The lower limb osteology was grossly aberrant. The size of the amputated limb did not permit use of a tourniquet and cell salvage reintroduced 10.5 litres of blood with a further 6 units of red cells intra-operatively. The leg stump successfully took to a split-skin graft. A unique phenomenon was witnessed post-operatively whereby the stump continued to grow due to upregulation of fibroblasts secondary to trauma. Targeted genetic therapies have been successfully developed to suppress this stump growth. This unique and unclassified overgrowth syndrome was caused by a mutation in the PIK3CA gene. Orthopaedic management of the oversized limb was complex requiring multiple surgeons and prolonged general anesthetic. A multi-disciplinary approach to this condition is required for optimizing outcomes in these patients.
To assess outcomes following a radical approach to cases of compartment syndrome in which a significant degree of muscle necrosis is found, 4 paediatric and adolescent patients with a delayed diagnosis of compartment syndrome in which muscle necrosis in single or multiple compartments were treated by radical debridement of necrotic tissue and reconstruction of the anterior compartment through transfer of peroneus brevis to extensor digitorum and hallucis longus tendons. Where suitable, a free vascularised and innervated gracilis muscle transfer to the tibialis anterior tendon stump was carried out with anastomosis of the nerve to gracilis to the deep peroneal nerve. Free gracilis muscle transfer was functional in one of the two patients whilst peroneus brevis transfer to extensor digitorum and hallucis tendons was functional in all three patients. In one patient, radical debridement resulted in loss of the entire anterior compartment requiring permanent ankle foot orthosis. All others had recovery of protective foot sensation and at minimum follow-up of 12 months were walking unaided. Infection was not seen in any patient. Prompt fasciotomy, debridement and reconstruction for late diagnosis of compartment syndrome proved limb-saving in our patients.
A second stage reconstruction was performed after 4–6 weeks, using a free vascularised fibular graft, fixed using internal and/or external fixation.
Patients gained an average of 46° forearm rotation (range 0–105°) with wrist or elbow motion significantly improved in 3 patients. At last review, all patients had a pain-free stable forearm with unhindered hand functions of grasp, hook and pinch. SF-36 assessment showed varied results, although mean values for the physical components of the survey were lower than general population values, while mental/emotional scores were as good.
