title: Pain insensitivity syndrome misinterpreted as inflicted burns.
abstract: We present a case study of a 10-year-old child with severe burns that were misinterpreted as inflicted burns. Because of multiple injuries since early life, the family was under suspicion of child abuse and therefore under supervision of the Child Care Board for 2 years before the boy was burned. Because the boy incurred the burns without feeling pain, we conducted a thorough medical examination and laboratory testing, evaluated detection and pain thresholds, and used MRI to study brain morphology and brain activation patterns during pain between this patient and 3 healthy age- and gender-matched controls. We found elevated detection and pain thresholds and lower brain activation during pain in the patient compared with the healthy controls and reference values. The patient received the diagnosis of hereditary sensory and autonomic neuropathy type IV on the basis of clinical findings and the laboratory testing, complemented with the altered pain and detection thresholds and MRI findings. Hereditary sensory and autonomic neuropathy IV is a very rare congenital pain insensitivity syndrome characterized by the absence of pain and temperature sensation combined with oral mutilation due to unawareness, fractures, and anhidrosis caused by abnormalities in the peripheral nerves. Health care workers should be aware of the potential presence of this disease to prevent false accusations of child abuse.
authors.affiliation: Intensive Care and Departments of Pediatric Surgery, g.vandenbosch@erasmusmc.nl.
authors.forename: Gerbrich E
authors.initials: GE
authors.lastname: van den Bosch
authors.affiliation: Department of Pediatrics and.
authors.forename: Martin G A
authors.initials: MG
authors.lastname: Baartmans
authors.affiliation: Department of Pediatrics, Medical Center Haaglanden, Den Haag, Netherlands.
authors.forename: Paul
authors.initials: P
authors.lastname: Vos
authors.affiliation: Burn Center, Maasstad Hospital, Rotterdam, Netherlands; and.
authors.forename: Jan
authors.initials: J
authors.lastname: Dokter
authors.affiliation: Child and Adolescent Psychiatry/Psychology, and Radiology, Erasmus MC-Sophia Children's Hospital, Rotterdam, Netherlands;
authors.forename: Tonya
authors.initials: T
authors.lastname: White
authors.affiliation: Intensive Care and Departments of Pediatric Surgery.
authors.forename: Dick
authors.initials: D
authors.lastname: Tibboel
mesh_terms: D001921:Brain / Q000503:physiopathology; D002056:Burns / Q000175:diagnosis* / Q000503:physiopathology; D002648:Child; D002649:Child Abuse / Q000175:diagnosis; D003937:Diagnosis, Differential; D004402:Dysautonomia, Familial / Q000175:diagnosis* / Q000503:physiopathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D000699:Pain Insensitivity, Congenital / Q000175:diagnosis* / Q000503:physiopathology; D017288:Pain Threshold / Q000502:physiology; D014947:Wounds and Injuries / Q000175:diagnosis / Q000503:physiopathology
keywords: abuse; anhidrosis; congenital insensitivity to pain with anhidrosis (CIPA); hereditary sensory and autonomic neuropathy (HSAN); neuroimaging; pain insensitivity syndrome