Fatal Rapunzel Syndrome: Gastric and Intestinal Trichobezoars in a Child With Trichotillomania.

ABSTRACT: We report a rare case of a young child, younger than10 years, who died of complications related to trichophagia and multiple gastrointestinal trichobezoars. One year before death, the child's clinical history yielded a diagnosis of iron deficiency anemia, believed to be related to poor diet, and alopecia areata, the etiology of which was unknown. Two weeks before death, the child presented with complaints of intermittent "flu-like" symptoms and vomiting. The child reported abdominal pain, anorexia, and fatigue on the night before death. The next morning, the child ate breakfast and was subsequently discovered unresponsive.On external examination, there were areas of thinning head hair. Postmortem computed tomography, magnetic resonance imaging, and internal examination revealed 3 distinct trichobezoars, occupying the stomach, jejunum, and ileum. This was complicated by small bowel obstructions and perforations due to the trichobezoars. The cause of death was peritonitis secondary to small bowel perforations due to small bowel obstruction with multiple trichobezoars. This is the first case report to demonstrate the utility of postmortem computed tomography and magnetic resonance imaging in characterizing the nature and extent of trichobezoars in a fatal case of Rapunzel syndrome.

Dj1 deficiency protects against atherosclerosis with anti-inflammatory response in macrophages.

Inflammation is a key contributor to atherosclerosis with macrophages playing a pivotal role through the induction of oxidative stress and cytokine/chemokine secretion. DJ1, an anti-oxidant protein, has shown to paradoxically protect against chronic and acute inflammation. However, the role of DJ1 in atherosclerosis remains elusive. To assess the role of Dj1 in atherogenesis, we generated whole-body Dj1-deficient atherosclerosis-prone Apoe null mice (Dj1-/-Apoe-/-). After 21 weeks of atherogenic diet, Dj1-/- Apoe-/-mice were protected against atherosclerosis with significantly reduced plaque macrophage content. To assess whether haematopoietic or parenchymal Dj1 contributed to atheroprotection in Dj1-deficient mice, we performed bone-marrow (BM) transplantation and show that Dj1-deficient BM contributed to their attenuation in atherosclerosis. To assess cell-autonomous role of macrophage Dj1 in atheroprotection, BM-derived macrophages from Dj1-deficient mice and Dj1-silenced macrophages were assessed in response to oxidized low-density lipoprotein (oxLDL). In both cases, there was an enhanced anti-inflammatory response which may have contributed to atheroprotection in Dj1-deficient mice. There was also an increased trend of plasma DJ-1 levels from individuals with ischemic heart disease compared to those without. Our findings indicate an atheropromoting role of Dj1 and suggests that targeting Dj1 may provide a novel therapeutic avenue for atherosclerosis treatment or prevention.