A 12-year-old boy presented to the pediatrician with severe burning pain in his extremities. He had a known congenital disorder associated with progressive renal and cardiac involvement. Physical examination revealed numerous dark skin lesions over the lower trunk. Biopsy of the lesions demonstrated excessive ceramide deposition. Can you identify his congenital disorder?
Sources : Pediatric Neurology & Molecular Genetics and Metabolism ##Disclaimer## The content provided on Docplexus is intended for educational purposes only. While we strive to ensure its accuracy, we make no warranties, explicit or implied, about the suitability, reliability, or adequacy of the information, including data visualization elements and graphics. We do not endorse any medical treatment, product, ideas or service, including the content from our industry partners. We do not associate with the views of any…
