Mucopolysaccharidosis VII (or Sly syndrome) is an autosomal recessive disorder characterised by a deficiency in the enzyme Beta-glucuronidase (GUSB). Partial degradation of glycosaminoglycans (GAGs); chondroitin sulfate (CS), dermatan sulfate (DS) and heparan sulfate (HS) results in the accumulation of these fragments in the lysosomes of many tissues, eventually leading to multisystem damage. In some cases, early diagnosis on clinical grounds alone can be difficult due to the extreme variability of the clinical presentation and disease progression. We present a case report of a 31-year-old male patient diagnosed with MPS VII at the age of 28, who multiple specialists saw without suspecting the diagnosis due to the unusual presentation. The patient presented with a history of developmental delay, scoliosis, kyphosis, corneal clouding, abnormal gait, short stature, hearing impairment, slightly coarse facial features and progressive deterioration of fine motor skills since childhood. The patient had inguinal hernia repair at around 12 months, bilateral hearing impairment with a left bone-anchored hearing aid, and spinal surgery. During spinal surveillance MPS VII was suspected by a spinal surgeon with interest in MPS, and the diagnosis confirmed with a deficiency in beta-glucuronidase in leucocytes and marginally elevated urinary GAGs. Next-generation sequencing identified two mutations in the GUSB gene (OMIM 611499), c.526C > T p.(Leu176Phe) and c.1820G > C p.(Gly607Ala). Although the patient exhibited features of the severe form of non-classical manifestations, his metabolic condition has remained reasonably stable, surviving into adulthood with only symptomatic treatment. We present the ever-expanding phenotypic spectrum of this ultra-rare disease.
We studied 70 consecutive patients with adolescent idiopathic scoliosis who underwent corrective surgery. They were divided into two groups. In the study group of 38 patients one or more modern blood-conservation measures was used peri-operatively. The 32 patients in the control group did not have these measures. Both groups were similar in regard to age, body-weight, the number of levels fused and the type of surgery. Only two patients in the study group were transfused with homologous blood and these transfusions were 'off-protocol'. Wastage of autologous pre-donated units was minimal (6 of 83 units). By contrast, all patients in the control group were transfused with homologous blood. In the study group there was a significant decrease (p = 0.005) in the estimated blood loss when all the blood-conservation methods were used. The use of blood-conservation measures, the lowering of the haemoglobin trigger for transfusion and the education of the entire team involved in the care of the patient can prevent the need for homologous blood transfusion in patients undergoing surgery for adolescent idiopathic scoliosis.
Blood Transfusion, Autologous , Scoliosis/surgery , Adolescent , Blood Loss, Surgical , Clinical Protocols , Female , Hemoglobins/analysis , Humans , Intraoperative Care/methods , Male , Patient Care Team , Retrospective Studies , Scoliosis/physiopathology
External fixation facilitates nursing care and early rehabilitation of head-injured children with femoral shaft fractures. We report an unusual complication of early fatigue failure of the external fixator pins without the patient ever bearing weight.
Bone Nails/adverse effects , Craniocerebral Trauma/diagnosis , External Fixators/adverse effects , Femoral Fractures/surgery , Fracture Fixation/instrumentation , Accidents, Traffic , Child , Craniocerebral Trauma/complications , Equipment Failure , Femoral Fractures/diagnostic imaging , Follow-Up Studies , Fracture Fixation/methods , Fracture Healing/physiology , Humans , Injury Severity Score , Male , Multiple Trauma/diagnosis , Radiography , Reoperation , Time Factors
We describe two patients who developed gluteal compartment syndrome after total knee arthroplasty (TKA) carried out under epidural analgesic infusion and light sedation. To our knowledge, this occurrence has not been described previously after TKA.
Analgesia, Epidural , Arthroplasty, Replacement, Knee , Buttocks/surgery , Compartment Syndromes/surgery , Postoperative Complications/surgery , Aged , Compartment Syndromes/diagnosis , Humans , Male , Middle Aged , Postoperative Complications/diagnosis , Reoperation , Risk Factors
The use of antibiotic-impregnated cement as a bone spacer in two-stage revision hip surgery has been well described. Two additional placements for spacers are described: within the trochanteric osteotomy and overlying the greater trochanter. These spacers have been found to dramatically facilitate exposure at the second-stage procedure and are now being incorporated into all two-stage revision hip arthroplasties at The General Infirmary at Leeds.
Anti-Bacterial Agents/administration & dosage , Arthroplasty, Replacement, Hip/methods , Bone Cements , Gentamicins/administration & dosage , Polymethyl Methacrylate , Humans
Knee arthroplasty periprosthetic supracondylar fracture of the femur is a well-recognized problem that is likely to be seen more frequently with the increasing number of knee arthroplasties being performed. Treatment of this fracture is difficult. A new method of internal fixation for supracondylar fractures around a stemmed femoral component using a custom-made extension to the femoral stem is described. This technique allowed early mobilization of the patient, with restoration of a good range of movement of the knee and fracture union within 1 year.
Femoral Fractures/etiology , Femoral Fractures/surgery , Knee Prosthesis/adverse effects , Aged , Arthritis, Rheumatoid/surgery , Female , Femur , Humans , Prostheses and Implants , Prosthesis Design
