Paediatric Amputee Case Study Natasha Hankin 12 th November 2010

Peter 14 years old Epidermal Naevus Syndrome and Polyostotic Fibrous Dysplasia affecting the right side of his body

Epidermal Naevus Syndrome Defined as a sporadic neurocutaneous linkage of congenital ectodermal defects in the skin, brain, eyes, and/or skeleton Can have associated skeletal disease focal bone defects that may manifest as fibrous dysplasia

Polyostotic Fibrous Dysplasia Affects bones and skin pigmentation Characterized by abnormal fibrous development of the bones → fractures, deformities and abnormal x-rays Abnormal skull bone growth → blindness or deafness and cosmetic abnormalities Birthmarks

History At birth he was noted to have ?? rash and referred to a Dermatologist – organised further testing Full diagnoses of Epidermal Naevus Syndrome was not made until 18 months with his first fracture of the humerus Affecting (R) side of the body

History cont. Coarctation of the aorta repaired at 4yrs Hypoplastic abdominal aorta, hypertension and suspected nephroblastomatosis “Lymphedema” presentation Multiple pathological fractures

Fractures 18 months: (R) humerus fracture – cystic lesions 4 years old: (R) Tibial fracture 5 ½ yrs old: (R) femur fracture

April 2009 Multiple failed Operations to correct pathological # of (R) tibia Chronic pain in (R) leg Leg length discrepancy of 11cm (right side shorter) Missing large amounts of school

Options: Continue in POP Ilizarov frame BKA Through knee amputation

Ilizarov frame: 21 st May 2009 Surgery for excision of fibrous segment proximal tibia, proximal tibia osteotomy, removal of tibia rod and application of Ilizarov Frame Femoral extension – bone quality

July 2009 Severe pain persisted in (R) tibia Requiring large quantities of pain killers Tibial # not showing signs healing Pins loosening Decision made for through knee amputation

9 th July 2009 (R) through knee amputation Revision of (R) femoral intramedullary fixation - removal of rod and insertion of nail

Post-op Problems Post –op pain (phantom and stump) Swelling & lymphedema – achieving a static size Delayed wound healing Naevus breakdown (R) arm pain – crutches use

Initial Physiotherapy Various methods of stump compression & trying to minimise naevus breakdown Standing balance on (L) / mobility Hip flexor stretch Hip extensor and core strengthening exs Mirror Therapy Massage/ desensitisation

Gait training Started 22 nd September 2009 (2 ½ months post-op) Standing balance/ weight transfer Gait training in // bars → 2 x Canadian crutches → 1 x crutch Continuing strengthening and stretching Aim: To mobilise unaided across all surfaces

Progress Peter has been able to return to school and be integrated into social activities Peter has greatly reduced pain He has started playing non-contact games/ sports

Delays… Still requires one crutch to mobilise Ongoing problems: a growth spurt, Lymphedema swelling, and falls ? Confidence issues because of consequences of a fall Mobility progression/ weight bearing limited by tolerance of prosthesis

Chronic Pain in children Multidisciplinary approach Social cost to children Friendships Peer victimisation Isolation School functioning

Currently Peter has followed his hobby of shooting and is training with the Paralympics shooting squad with an aim to represent Australia

References 1.Chalkiadis, G.A. (2001). Management of chronic pain in children. MJA. 175, Forgeron, P.A., King, S., Stinson, J.N., McGrath, P.J., Macdonald, A.J, & Chambers, C.T. (2010). Social functioning and peer relationships in children and adolescents with chronic pain: A systematic review. Pain Res Manage, 15(1),