Menkes disease (MD) usually presents in infancy with respiratory and neurological complications. Severe isolated vasculo-connective tissue involvement in infancy is rare, and hence the precise and timely diagnosis is difficult. We report a case of an 8-week-old male infant who succumbed to acute, severe exsanguination, and hemorrhagic shock secondary to a large retroperitoneal hematoma due to rupture of a right iliac artery aneurysm. Perimortem musculoskeletal findings raised suspicion of nonaccidental injury. However, postmortem review of facial traits raised the suspicion of MD. MD was subsequently confirmed on genetic testing. Child health clinicians must remain aware of MD as a rare cause of infant vasculopathy or atypical skeletal abnormalities.

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Background: Atypical Congenital Obstructive Urethral Lesions (ACOUL) are uncommon causes of urethral obstruction in children. They include Cobb's collar or Moorman's ring, Type III posterior urethral valve (PUV), congenital urethral narrowing and anterior urethral valves. This study is aimed to evaluate the knowledge and current practice amongst clinicians attending to ACOUL. An international online case based questionnaire was performed. Materials and methods: A survey was administered to members of international urological societies. It included 22 clinical questions on cases with ACOUL (14 questions suitable for statistical analysis) using cases of Type I PUV as controls. Two sets of paired questions evaluated change in opinion(s) after additional information was provided. Results: One hundred twenty-one participants responded with 71% reporting exposure of less than 5 cases per annum. In questions regarding diagnosis between 11.6% (14/121) and 21.5% (26/121) of participants identified the ACOUL as PUV. Among them, 66% of respondents agreed on ACOUL's causative role in urethral obstruction. Gini coefficient was consistently lower for ACOUL compared to PUV: diagnosis (mean 0.33 vs. 0.44) and prognosis (0.23 vs. 0.43). High intra-rater concordance (kappa 0.420.57) was observed for paired questions-a mean of 5.79% (7.44% and 4.13% for questions 10 and 12, 16 and 17, respectively) of participants changed their answers from an alternate diagnosis to the correct diagnosis of ACOUL after viewing endoscopic images. High variation in management of ACOUL was noted (Gini 0.51). Conclusions: This global snapshot survey identified substantial inconsistency among clinicians dealing with ACOUL. Although rarely encountered in clinical practice, better overall education of ACOUL is warranted.