RESUMEN
Introduction. Congenital insensitivity to pain and anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV is an extremely rare syndrome. Three clinical findings define the syndrome: insensitivity to pain, impossibility to sweat, and mental retardation. This pathology is caused by a genetic mutation in the NTRK1 gene, which encodes a tyrosine receptor (TrkA) for nerve growth factor (NGF). Methods. The consultation of a child female in our center with CIPA and a tibia fracture in pseudoarthrosis encouraged us to carefully review literature and examine the therapeutic possibilities. A thorough review of literature published in Pubmed was done about CIPA and other connected medical issues mentioned in the paper. Conclusions. The therapeutic approach of CIPA remains unclear. The preventive approach remains the only possible treatment of CIPA. We propose two new important concepts in the therapeutic approach for these patients: (1) early surgical treatment for long bone fractures to prevent pseudoarthrosis and to allow early weight bearing, decreasing the risk of further osteopenia, and (2) bisphosphonates to avoid the progression of osteopenia and to reduce the number of consecutive fractures.
RESUMEN
Patellar osteochondral fractures with no dislocation are uncommon and usually affect the centromedial facet of the patella. We present the case of a 10 year-old, overweight, female patient. She was seen in the emergency room after suffering an accidental fall, assessed as an osteochondral fracture-dislocation of the right patella with upper-outer displaced free fragments. By patient interview, she referred to no previous episodes of patellar dislocation. To complete the study, we performed an MRI which showed a medial facet patellar fracture, with two osteochondral fragments located in the sub-quadricipital recess, associated with other lesions suggesting patellar subluxation. We considered that the best treatment was surgery, so the following was performed: an open reduction and internal fixation with absorbable bars, lateral patellar release (Ficat technique), patellar coverage by medial portion of quadriceps (Insall technique) and internal moving of the lateral half of the patellar tendon (Goldwaith technique). The injury was checked one year later using arthroscopy. It confirmed a good reconstruction of the articular surface, and right patellar centering. At follow-up, during the physiotherapy period, the patient began to have repeated episodes of instability in the contralateral patella. The CT scan confirmed the patellar lateralisation (TAGT 17). Centering surgery was indicated due to the occurrence of multiple dislocation episodes. The patient currently carries out normal physical activity and she has a complete range of movement. Patellar osteochondral fracture is an injury frequently associated with patellar instability, which may onset in the first episode. The medial location of the lesions and the involvement of the system of medial knee stability is a fundamental finding. This fact reinforces the diagnosis of pre-fracture patellar dislocation. This is not a fracture-dislocation, but a dislocation-fracture. We may, therefore, treat the injury and its cause.