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Symptomatic patients with Gaucher disease (GD) (acid ␤-glucosidase [Gcase] deficiency) are treated with injectable human recombinant GCase. Treatment results in significant decreases in lipid storage in liver, spleen, and bone marrow, but the generalized osteopenia and focal bone lesions present in many adult patients are refractory to treatment. A double-blind, 2-arm, placebo-controlled trial of alendronate (40 mg/d) was performed in adults with GD who had been treated with enzyme for at least 24 months. Primary therapeutic endpoints were improvements in (1) bone mineral density (BMD) and content (BMC) at the lumbar spine, and (2) focal lesions in x-rays of long bones assessed by a blinded reviewer. There were 34 patients with GD type 1 (age range, 18-50 years) receiving enzyme therapy who were randomized for this study. After 18 months, ⌬BMD at the lumbar spine was 0.068 ؎ 0.21 and 0.015 ؎ 0.034 for alendronate and placebo groups, respectively (P ‫؍‬ .001). Long-bone x-rays showed no change in focal lesions or bone deformities in any subject in either arm. Alendronate is a useful adjunctive therapy in combination with enzyme replacement therapy (ERT) for the treatment of GD-related osteopenia in adults, but it cannot be expected to improve focal

This study was designed to test the hypothesis that non‐ambulatory patients with spastic quadriplegia will have reduced bone mass which worsens with increasing age. Forty‐eight patients (age 5 to 48 years, median age 15 years; 19 females and 29 males) were studied. Anticonvulsants were used in 29 patients (60.4%). Lumbar spine bone mineral density (LS‐BMD) was markedly reduced compared with age‐and sex‐matched control individuals with a z score of ‐2.37±0.21. Twenty‐eight (58%) had z scores of less than ‐2. A history of documented previous fracture was present in 19 patients (39%). Patients with a history of fracture had significantly lower (p=0.05) LS‐BMD z scores (‐2.81±0.29) compared with those without a history of fracture (‐2.11±0.26). Mean serum 25‐OH vitamin D was 29.6±1.9ng/mL (normal 9 to 37.6ng/mL) with three patients having serum 25‐OH vitamin D levels less than 15ng/mL. These findings indicate that BMD is markedly reduced in non‐ambulatory children and adults with neuromuscular disease. Reductions in bone mass put them at greater risk for non‐traumatic fractures.

Because of the dangers of inappropriate placement of an umbilical vein catheter (UVC), knowledge of the proper pathway and tip localization is important. The acceptable ductus venosus/hepatic vein/inferior vena cava confluence location is compared to inappropriate localizations below and above the diaphragm, with emphasis on confusion about the position when the UVC tip is in the umbilical vein itself, including the umbilical vein recess. Small amounts of gas can inadvertently accompany initial UVC placement and provide landmarks for position evaluation.