Carnitine palmitoyl transferase type 2 defi ciency -case report and review of the literature

ABSTRACT -Carnitine palmitoyl transferase (CPT) defi ciency is a relatively rare disease of fatty acid oxidation inherited autosomal recessively. CPT2 defi ciency presents frequently in adults with rhabdomyolysis and myoglobinuria triggered most oft en by prolonged exercise. Carnitine is required for the transfer of longchain fatty acids from the cytoplasm to the mitochondrial matrix for their oxidation. Strenuous exercise is known to increase serum creatine kinase (CK) in nearly all healthy people and can be elevated oft en over ten times the upper limit of normal. Rhabdomyolysis can be of inherited etiology (disorders of glycogenolysis, fatty acid oxidation, mitochondrial respiratory chain pathways) or acquired (trauma, compartment syndrome, drugs, caff eine, toxins, infections, infl ammatory muscle diseases, and exertion). Here we present a female patient with CPT2 defi ciency diagnosed aft er recurrent rhabdomyolysis upon physical exertion and carbohydrate-restrictive diet. With the implementation of dietary measures and lifestyle changes that included more frequent but shorter interval exercise and avoidance of inappropriate physical exertion, the patient had a normal neurological status with only slightly elevated CK levels. Th is example illustrates the importance of careful monitoring of patients with increased levels of CK, even when there are no evident clinical, histopathologic or electromyoneurography (EMNG) indicators of myopathy

Influence of the acetabular cup position on hip load during arthroplasty in hip dysplasia

Placement of the acetabular cup during total hip arthroplasty is of great importance because usually every deviation from the ideal centre of rotation negatively influences endoprosthesis survival, polyethylene wear and hip load. Here we present hip load change in respect to various acetabular cup positions in female patients who underwent total hip replacement surgery due to hip dysplasia. The calculation suggests that, in the majority of cases, for every millimeter of lateral displacement of the acetabular cup (relative to the ideal centre of rotation) an increase of 0.7% in hip load should be expected and for every millimeter of proximal displacement an increase of 0.1% in hip load should be expected (or decreased if displacement is medial or distal). Also, for every millimeter of neck length increase, 1% decrease is expected and for every millimeter of lateral offset, 0.8% decrease is expected. Altogether, hip load decreases when the cup is placed more medially or distally and when the femoral neck is longer or lateral offset is used

Femoral Shortening During Hip Arthroplasty Through a Modified Lateral Approach

We describe a modification of the direct lateral approach to the hip that provides excellent femoral and acetabular exposure and an easy way to shorten the proximal femur and equalize leg length. The approach also is useful for lower extremity elongation while preserving muscle continuity and minimizing postoperative complications. The exact amount of shortening can be calculated and planned preoperatively and measured and corrected intraoperatively if necessary. It avoids the necessity for osteotomies of the trochanter and transverse cuts or detachment of abductor muscles