Hereditary multiple exostoses with spine involvement in a 4-year-old boy.

Hereditary multiple exostosis (HME) is an autosomal dominant disorder characterized by multiple osteochondromas. We describe a case of acute cervical spinal cord compression arising from an exostosis at the lamina of C7 and T1 in a 4-year-old Mexican-American boy with HME. His affected sibling also displayed spinal cord compression because of a bony exostosis. Acute cervical spinal cord compression resulting from osteochondroma is a serious complication of HME. (c) 2010 Wiley-Liss, Inc.

Intramedullary abscess of the spinal cord in children: a case report and review of the literature.

A case report of an intramedullary spinal cord abscess in a 13-month-old boy and a review of relevant existing pediatric literature is presented. Thirty-eight cases of pediatric intramedullary spinal cord abscess are analyzed for presenting signs and symptoms, microbiology of isolated organisms, surgical intervention, antibiotic administration and outcome. The most significant variable on outcome is timely surgical intervention, followed by appropriate antibiotic administration.

Prospective evaluation of a clinical practice guideline for diagnosis of appendicitis in children.

OBJECTIVES: The objective was to assess the performance of a clinical practice guideline for evaluation of possible appendicitis in children. The guideline incorporated risk stratification, staged imaging, and early surgical involvement in high-risk cases. METHODS: The authors prospectively evaluated the clinical guideline in one pediatric emergency department (ED) in a general teaching hospital. Patients were risk-stratified based on history, physical examination findings, and laboratory results. Imaging was ordered selectively based on risk category, with ultrasound (US) as the initial imaging modality. Computed tomography (CT) was ordered if the US was negative or indeterminate. Surgery was consulted before imaging in high-risk patients. RESULTS: A total of 475 patients were enrolled. Of those, 193 (41%) had appendicitis. No low-risk patient had appendicitis. Medium-risk patients had a 19% rate of appendicitis, and 83% of high-risk patients had appendicitis. Factors associated with an increased likelihood of appendicitis included decreased bowel sounds; rebound tenderness; and presence of psoas, obturator, or Rovsing's signs. Of the 475 patients, 276 (58%) were managed without a CT scan. Seventy-one of the 193 (37%) patients with appendicitis went to the operating room without any imaging. The rate of missed appendicitis was 2%, and the rate of negative appendectomy was 1%. CONCLUSIONS: The clinical practice guideline performed well in a general teaching hospital. Rates of negative appendectomy and missed appendicitis were low and 58% of patients were managed without a CT scan.

A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years.

Recombinant human alpha-L-iduronidase (Aldurazyme, laronidase) was approved as an enzyme replacement therapy for patients with the lysosomal storage disorder, mucopolysaccharidosis I (MPS I). In order to assess the long-term safety and efficacy of laronidase therapy, 5 of 10 patients in the original laronidase Phase 1/2 clinical trial were re-evaluated after 6 years of treatment. Lysosomal storage was further improved at 6 years (urinary glycosaminoglycans (GAG) excretion decreased 76%; mean liver size at 1.84% of body weight). Shoulder maximum range of motion was maintained or further increased and reached a mean 33.2 (R) and 25.0 (L) degrees gained in flexion and 34.0 (R) and 27.3 (L) degrees gained in extension. Sleep apnea was decreased in four of five patients and the airway size index improved. Cardiac disease evaluations showed no progression to heart failure or cor pulmonale but pre-existing significant valve disease did progress in some patients. Substantial growth was observed for the pre-pubertal patients, with a gain of 33 cm (27%) in height and a gain of 31 kg in weight (105%). In general, the evaluated patients reported an improved ability to perform normal activities of daily living. Overall these data represent the first evidence that laronidase can stabilize or reverse many aspects of MPS I disease during long-term therapy and that early treatment prior to the development of substantial cardiac and skeletal disease may lead to better outcomes.