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NO PAIN NO GAIN: CONGENITAL
INSENSITIVITY TO PAIN AND ANHIDROSIS
Lynna Nguyen – Survey Center
What is CIPA? Congenital Autosomal recessive Autonomic sensory neuropathy Anhidrosis: Inability to sweat Mutation of Neurotrophic Tyrosine-Kinase
receptor (NTRK1 gene)
Patient Outlook 1 in 125 million Average lifespan: 25
years Self-mutilation is
common Teeth Lip Tongue Eyes Ears Nose Fingers
Dental deformity
Finger tip osteolysis
Case Study
Patient 1 Patient 2 12 year old boy Chronic
osteomyelitis Mentally retarded Self-mutilation of
fingertips Brain CT, lumbar
puncture, immune tests, viral markers
Normal
13 year old girl Deep sore in right
foot History of
osteomyelitis Mentally retarded Self-mutilation of
fingertips
Normal tests
Patient 3 Patient 4 8 year old girl Edema of right leg Mentally retarded EEG abnormal
Preexisting metabolic condiction
Immune test, viral markers, blood gas and uric acid levels normal
7 year old girl Osteomyelitis and
gangrene and both feet
Osteolytic lesions on mandibles
Intelligence test normal
Misdiagnosed with chronic granulomatous disease
Treatment? No standard
treatment Symptoms are
treatedAntibioticsRemoval of necrotic
tissueAmputation
Conclusions
Deep tissue and bone infections are most common
Curiosity or trauma from mental retardation inflicts greater harm
Tests are normalPhysician deduction and
awareness required for diagnosis
Hope for the Future Symptom prevention through education Awareness
Conservative treatment planAbility to diagnose
Pain management and therapy research opportunity
Questions?Thank You!