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. Copyright

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Keywords Abuse, Anhidrosis, Congenital insensitivity to pain with anhidrosis (CIPA), Hereditary sensory and autonomic neuropathy (HSAN), Neuroimaging, Pain insensitivity syndrome
Persistent URL dx.doi.org/10.1542/peds.2013-2015, hdl.handle.net/1765/70579
Journal Pediatrics (English Edition)
van den Bosch, G.E, Baartmans, M.G.A, Vos, P, Dokter, J, White, T.J.H, & Tibboel, D. (2014). Pain insensitivity syndrome misinterpreted as inflicted burns. Pediatrics (English Edition), 133(5). doi:10.1542/peds.2013-2015