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Fakultas Kedokteran / Departemen Ilmu Bedah Ortopedi & Traumatologi
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Tahun : 2011
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Posting : 25-02-2012
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UPDATE THERAPY FOR PSEUDOARTHROSIS TIBIA IN NEUROFIBROMATOSIS TYPE I
Author : Dr. Ferdiansyah, dr., Sp.OT.
Year : 2011
Pseudoarthrosis of the tibia, associated with Neurofibromatosis type I (NF1) in 50% cases. In Danis study, incidence of pseudoarhtrosis is estimated about 1/190.000 live births (Andersen 1978).
We reported 3 years old girl with bowing of her left leg. This patient also showed more than 6 café au lait spots with diameter > 0.5 cm. Plain x-ray showed anterolateral bowing of her left leg with pseudoarthrosis of the tibia.
We performed pseudoarthrosis excision with reconstruction using bone allograft seeded with bone marrow mesenchymal stem cells. Two months post surgery, showed promising result with sign of clinical and radiological union.
Congenital bowing and thinning of the long bones appears in children with Neurofibromatosis type 1(NF1) either with or without pseudoarthrosis. In NF1, pseudoarthrosis represents a congenital defect in long bone formation. By far the most common site is the tibia. It is estimated that congenital pseudarthrosis of the tibia (CPT) turns out to be associated with NF1 in about a half of cases. The overall incidence of the pseudarthrosis has been estimated in a Danish study from the 1970’s to be about 1/190 000 live births (Andersen 1978), and its frequencies in NF1 from 1% to 4% between populations.
Resection of pseudoarthrosis, followed by reconstruction using bone allograft seeded with stem cells, acts as bone conduction. The stem cells seeding into the allograft aimed to aid the integration process into recipient’s bone.
We reported a 3 years old girl with chief complain bowing of her left lower leg. Then at 1.5 years old, she fell down while she was walking, after which the parents noticed deformity and leg length discrepancy became more apparent. No hump found on her back, as well as weakness or other neurological deficit. Physical examination showed café au lait spots more than six @ diameter > 0.5 cm. There were multiple freckles in groin area. Radiological examination showed bowing antero lateral of left lower leg, thinning of its bone cortex, with pseudoarthrosis of distal tibia.
We diagnosed this patient as neurofibromatosis type I with pseudoarthrosis left tibia.
Preliminary surgery was bone marrow aspiration from tibia tuberosity. The bone marrow aspirates then cultured into stem cells in laboratory. Pseudoarthrosis excision followed by reconstruction using bone allograft seeded with bone marrow mesenchymal stem cells was done in July 27th 2011. Two months after surgery, clinical examination showed surgical wound has heal completely, bowing anterolateral of distal left lower leg, leg length discrepancy 2 cm. Radiological examination showed callus (+).
Osteointegration is hard to achieve in using bone allograft alone. Choice of vascularized fibular graft to fill bone defect after pseudoarthrosis excision, meet the obstacle in pediatric patient below 5 years old. Bone allograft seeded with bone marrow mesenchymal stem cells provided bone conduction as well as bone induction, proven by radiological healing in the case report above. Bone marrow mesenchymal stem cells offer potential strategy to aid osteointegration between bone allograft and recipient’s bone.
Keyword : pseudoarthrosis, Neurofibromatosis type I, bone marrow mesenchymal stem cells,
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