Liver transplantation for Gaucher disease presenting as neonatal cholestasis: Case report and literature review.

BACKGROUND: We present a rare case of neonatal cholestasis in a female infant with Gaucher Disease (GD), who received liver transplantation. We review the relevant literature on similar disease presentations. METHODS: A chart review of the index case was performed. PubMed and Medline databases were searched to identify other cases. RESULTS: A 4-day-old female was referred with conjugated hyperbilirubinemia. Physical examination revealed icterus with hepatosplenomegaly and normal neurologic examination. The diagnosis of GD was confirmed through liver biopsy, low glucocerebrosidase enzyme activity, and two pathogenic mutations in GBA gene. Despite early initiation of ERT, the patient had worsening of her liver failure and underwent a left lateral segment liver transplant from a living donor at 7 months of age. She experienced improvement of her liver enzymes and coagulation, but passed away at 8 months due to the late onset of neurologic involvement. Nine other cases of GD presenting with neonatal cholestasis have been reported. Forty-four percent (4/9) of cases received ERT and none were considered for transplant. Overall, the literature suggests a poor prognosis with death reported in 77% (7/9) cases. CONCLUSIONS: Neonatal presentation of GD represents a poor prognosis despite early initiation of treatment. Diagnosis remains a challenge as the presentation is rare and multiple tests such as BM biopsy, liver biopsy with both light and electron microscopy, enzymology, and genetic testing may need to be completed to reach a diagnosis. Neurological sequelae may manifest later making the decision to proceed with liver transplantation a difficult one.

Fad over fatality? The hazards of amber teething necklaces.

OBJECTIVE: Despite a growing number of injuries, no studies exist to date that quantitatively assess the strangulation risk of amber teething necklaces. The objectives of this study are to determine (a) if these necklaces release with the force required according to the American Society for Testing and Materials (ASTM) Standard Specification for Consumer Product Safety for Mechanical Requirements of Children's Jewelry, and (b) if they release with the mean force required to occlude a young child's airway, as determined in a study designed to inform manufacturing of products to reduce risk of accidental strangulation. METHODS: Fifteen amber teething necklaces were purchased from retailers in Atlantic Canada. Necklaces were tested using the Breakaway Tension Test method reported in ASTM guidelines. Necklaces were tested with a 15 pound weight (industry standard) and with a 1.6 pound weight (mean force required to occlude a child's airway). It was recorded whether the necklace released or remained intact at the end of each trial. RESULTS: Seven of fifteen necklaces did not open with 15 lbs of force. Eight of 10 necklaces tested did not open with 1.6 lbs of force. CONCLUSION: Almost 50% of our sample failed to open with 15 pounds of force, which is the force used in the ASTM standard for children's jewelry. Eighty per cent of our sample failed to open with 1.6 pounds of force, which was the mean force to occlude a young child's airway in a published study. These necklaces pose a strangulation risk to young children if they were to become caught.