Lynna Nguyen CIPA presentation

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!