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.
Multiple alternative sites for distal ventriculoperitoneal shunts have been described including pleural, atrial, ureteral, fallopian, and gallbladder placement. In medically complex patients the sites for cerebrospinal fluid (CSF) diversion can be exhausted. We present a case where open retroperitoneal inferior vena cava cannulation was used for successful atrial catheter placement in a 17-month-old female. The patient had a complex abdominal, pulmonary, and vascular history precluding placement of the distal catheter in other sites or atrial placement through more peripheral venous cannulation. The patient underwent uncomplicated open retroperitoneal exposure of her inferior vena cava (IVC) with cannulation and placement of atrial catheter under fluoroscopic guidance. At the follow-up one year after surgery, the patient did not require revision with appropriate placement of the distal atrial catheter.