Undiagnosed Metachromatic Leukodystrophy Presenting as Severe Gastrointestinal Bleeding and Cholestasis from Hemobilia.

Metachromatic leukodystrophy (MLD) is a neurodegenerative disorder caused by the accumulation of lipids called sulfatides throughout the nervous system. Sulfatides can also collect in other organs throughout the body including the gallbladder where they form polyps. Gallbladder polyps rarely have been found to bleed in patients with known MLD, presumably due to polyp shearing. Here we present a case of a child with autism presenting with severe gastrointestinal bleeding and direct hyperbilirubinemia, requiring significant resuscitation and biliary drain placement to tamponade ongoing bleeding. Subsequent neurologic and genetic investigation led to the diagnosis of MLD, with laparoscopic cholecystectomy revealing extensive, elongated gallbladder polyps. Clinicians who care for patients with MLD, including gastroenterologists who manage their progressive oropharyngeal dysphagia, should be aware of the risk for this life-threatening complication. Moreover, pediatric gastroenterologists and hepatologists should maintain a high index of suspicion for MLD in new patients presenting with developmental regression and gastrointestinal bleeding.

Cone-beam computed tomography guidance with navigational overlay for percutaneous lung nodule biopsy.

BACKGROUND: Cone-beam CT is increasingly used in pediatric interventional radiology procedures. However, the feasibility or safety of using this mode of imaging guidance for percutaneous lung nodule biopsy in children has not been assessed. OBJECTIVE: To retrospectively evaluate safety and diagnostic accuracy of percutaneous lung nodule biopsy in people treated at a pediatric hospital using cone-beam CT with navigational overlay. MATERIALS AND METHODS: Thirty-six consecutive patients from two large tertiary-care children's hospitals with lung nodules of 48 mm or smaller underwent percutaneous lung nodule biopsy using cone-beam CT with navigational overlay. We evaluated patient demographics, pre- and post-biopsy diagnoses, number of biopsy passes, complications, radiation exposure and technical success. RESULTS: Percutaneous lung nodule biopsy was performed for 37 nodules in 36 patients (23 males, 13 females, median age 15.5 years, range 8 months to 23 years). One patient underwent biopsy of two nodules at a single procedure. Median patient weight was 55 kg (range 8-97 kg). Pre-biopsy diagnoses included metastatic sarcoma or other solid tumor (n=11), leukemia/lymphoma (n=13), infection (n=10), chronic granulomatous disease (n=2) and post-transplant lymphoproliferative disorder (PTLD; n=1). Mean number of passes was 5 (range 2-15). Mean pre-procedure international normalized ratio (INR) was 1.1 and platelet count 193 × 109/L. Diagnostic specimens were obtained in 32 of 36 patients (89%). Thirteen complications were encountered in 12 patients (33% of cohort), including 9 pneumothoraces (4 requiring chest tubes); 1 hemothorax, which required a chest tube; and 3 self-limited pulmonary hemorrhages. Mean and median radiation doses were as follows: fluoroscopy time 3 min and 2.4 min, dose-area product (DAP) (recorded in 31 patients) 23,402 Gy·cm2 and 12,453 Gy·cm2, and air kerma 88 mGy and 58 mGy. CONCLUSION: Percutaneous lung nodule needle biopsy can be performed accurately using cone-beam CT with navigational overlay.

Thrombogenic superior vena cava syndrome from long-standing central venous access in a 5-year-old patient treated with balloon-expandable stents.

Thrombogenic superior vena cava syndrome is an uncommon, dangerous complication of long-standing central venous catheter use. The increased use of central venous catheters has resulted in more non-malignant cases of superior vena cava syndrome across all age groups. We present a 5-year-old male with superior vena cava syndrome associated with acute onset of severe upper extremity and facial swelling, dyspnea, and a right subclavian central venous catheter malfunction. The patient was ultimately treated with percutaneous stenting of the superior vena cava with balloon-expandable Palmaz stents following unsuccessful angioplasty, catheter-directed thrombolysis, and percutaneous thrombectomy. This case highlights a relatively uncommon complication in children from long-term central venous catheter access and describes an emerging, minimally-invasive therapeutic alternative that allows for preservation of age-appropriate superior vena cava luminal diameter as patients grow.