No abstract

Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare degenerative neurological disorder characterized by pontobulbar palsy and sensorineural deafness. Since its initial description in 1894, fewer than 100 cases have been reported, and published neuropathological analyses of these cases are extremely rare. Recently, individuals with BVVLS have been found to carry mutations in the C20orf54 gene, which encodes the human homolog for a rat riboflavin transporter. We present the case of a male who presented at the age of 5 years with sensorineural deafness, as well as those of 2 infant sisters who presented at 11 and 13 months of age with weakness and ataxia, respectively. All cases were genetically confirmed. We include the 1st immunohistochemical characterization of C20orf54 expression in BVVLS and controls. Results showed punctate axonal staining in the control cases that was dramatically reduced in the 3 BVVLS cases compared to the 5 controls. This decreased staining was seen even in the neocortex, which was unaffected in the BVVLS cases by routine histology. While the implications of these results are far from definitive, and although the evaluation of more cases is needed, immunohistochemistry for the C20orf54 protein may eventually be useful, in the right clinical scenario, as a screening test when selecting cases for sequencing of the C20orf54 gene to diagnose BVVLS at autopsy.

h Pythium insidiosum is an emerging human pathogen classified among brown algae and diatoms that can cause significant morbidity and mortality in otherwise healthy individuals. Here we describe a pediatric patient with pythiosis acquired in the southern United States, diagnosed by molecular screening and DNA sequencing of internal transcribed spacer region 1. CASE REPORTA n otherwise healthy 14-year-old girl living in urban north Texas presented to an urgent care facility with a 2-week history of a progressively enlarging, erythematous bump on the medial aspect of her left lower leg. She denied recent travel but was noted to have gone swimming in a swimming pool with signs of algal overgrowth. She was treated with incision and drainage and given a course of oral cephalexin. Although initially responding to antibiotics, over 2 weeks she again developed worsening local edema and erythema. The patient was switched to oral clindamycin but did not show improvement, prompting hospital admission about 3 weeks into her illness. She was administered intravenous clindamycin, and an ultrasound of the area revealed soft-tissue swelling with some patchy areas suggestive of fluid accumulation but without clear signs of an abscess. Incision and drainage was performed, and a drain was placed. Wound cultures were sent and returned positive for Staphylococcus intermedius and Pseudomonas aeruginosa. Based on the culture sensitivities of those organisms, antibiotic therapy was tailored to cefepime, tobramycin, and clindamycin. The patient showed clinical improvement and was discharged on oral ciprofloxacin 1 week after admission.After approximately 5 days, erythema and edema around the wound had visibly increased and the patient was readmitted approximately 1 month after onset of her initial symptoms. She was administered intravenous meropenem and amikacin and incision and drainage was repeated, revealing an abscess measuring 10 cm by 15 cm. A drain was again placed, and wound cultures were sent for growth of bacteria, fungi, and acid-fast bacilli. Histologic sections from debridement material demonstrated an acute and chronic inflammatory infiltrate, interrupted by eosinophilic pools comprised of poorly formed granulomas with central necrosis admixed with neutrophils, eosinophils, and mineralized debris (Fig. 1A). Rare hyphal elements on Gomori methenamine silver stain were identified (Fig. 1B and C). Consequently, amikacin was discontinued, and the patient was started on liposomal amphotericin B (250 mg intravenously [i.v.]