Manifestations of Klippel-Trenaunay Syndrome
February 16th 2010A 7-year-old girl presented with pain and discomfort in the left leg that was exacerbated by physical activity. She had been born with a port-wine stain on the left knee. As her mobility increased, she occasionally complained of discomfort in the left leg. Klippel-Trenaunay syndrome (KTS) was diagnosed at age 3 years after an evaluation for swelling, discoloration, and pain of the left leg. Magnetic resonance angiography and venography had revealed abnormally dilated, tortuous veins in the subcutaneous tissues from the distal thigh to the posterolateral calf with involvement of the proximal anterior tibial muscle. The parents had elected for conservative management with observation.
Type 1 Diabetes Mellitus in Children and Adolescents: Part 2, Management
February 12th 2010Although at present there is no cure for type 1 diabetes mellitus, good treatments are available that can enable affected children to lead healthy, active lives. Insulin regimens should be designed to optimize metabolic control while minimizing the risk of adverse events, such as hypoglycemic episodes, which can be more serious in children. Regimens of 3 in- jections per day work well for children who cannot receive an injection at lunchtime, while multiple daily injection (MDI) regimens provide more flexibility. Continuous subcutaneous insulin infusion (CSII) can provide better quality of life than MDI regimens, but CSII requires a high level of motivation and carries its own risks. In all children, insulin regimens must be adjusted to accommodate the physiological changes of growth and development. Long-term follow-up is important to monitor for complications of diabetes.
Can You Diagnose This Genetic/Developmental Disorder?
February 11th 2010A 6-year-old boy presents with tall stature (97th percentile for age), motor delays (walking at 16 months), speech delays (expressive vocabulary of 30 to 40 words with recent use of 2-word phrases), and behavioral differences (poor eye contact, lack of pointing, hyperactive behavior with hand-flapping).
Infant With Fat-Soluble Vitamin Deficiencies Caused by Cystic Fibrosis
February 9th 2010A 3-month-old African American boy was referred for evaluation of poor weight gain and vomiting. The infant had been evaluated by his primary care physician 15 times within the past 6 weeks; he had no change in symptoms despite various treatments.