We report a 2 year-old boy with Menkes' kinky hair disease associated with a solitary huge bladder diverticulum. To our knowledge this is the first reported case treated successfully by surgical excision under general anesthesia, which has been previously considered hazardous due to the poor general condition of the patient.
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http://dx.doi.org/10.1111/j.1442-2042.1997.tb00199.x | DOI Listing |
BMJ Case Rep
October 2024
Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA
Neurol Sci
January 2025
Department of Neurology, West China Hospital, Sichuan University, Chengdu, China.
Background: Menkes Disease (MD) is a fatal X-linked recessive disorder caused by mutations in the ATP7A gene. Severe cases typically die before the age of three. Mild MD and occipital horn syndrome are variants of MD characterized by a less severe phenotype and longer survival.
View Article and Find Full Text PDFBMC Pediatr
June 2024
Department of Radiology, West China Second University Hospital of Sichuan University, Chengdu, 610041, Sichuan Province, People's Republic of China.
Arq Neuropsiquiatr
May 2024
Rady Children's Hospital, San Diego California, United States.
Sci Rep
January 2024
Division of Human Genetics, Center for Molecular Medicine, Jichi Medical University, Shimotsuke, Tochigi, Japan.
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