Concluded Case

Congenital analgesia / Congenital insensitivity to pain

IS PAIN GOOD OR BAD ?? AN INTERESTING CASE A 3 year old patient reported with the chief complaint of fallen tooth while playing. Patient's parents gave history that patient does not feel pain as well as hot or cold temperatures and and no reaction to the blunt or sharp injuries SINCE BIRTH. Therefore, several self-mutilated injuries over legs, hand, lip, tongue, head were present. Patient's parents gave a history OF their consanguineous MARRIAGE. Etiology? Diagnosis? Tt? Prognosis?

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Congenital insensitivity to pain Syn: Congenital analgesia / Hereditary Sensory Autonomic Neuropathy It is a rarest condition, present since birth, that inhibits the ability to perceive physical pain in any part of their body. Over time, this lack of pain awareness can lead to an accumulation of injuries and health issues that may affect life expectancy. ETIOLOGY: 1) Autosomal Recessive caused by mutation SCN9A gene but Type 2 is Autosomal Dominant due to mutation in HSN2 2) Pt. doesn't feel pain due to increased production of endorphins in the brain and 3) His both myelinated and unmylinated fibres get damage. Apart from several injuries in whole body Children with this condition often sustain oral cavity damage both in and around the oral cavity (such as having bitten off the tip of their tongue) or fractures to bones. Tt: Multidisciplinary 1) iv antibiotics to reduce infections, 2) head and foot guards to reduce injury 3) oral guards 4) Naloxone- 0.25 micrograms/kg/hr ( block opioid receptors) Early Diagnosis and regular follow-up is required.. Life expectancy :7-9 years
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Congenital insensitivity to pain Syn: Congenital analgesia / Hereditary Sensory Autonomic Neuropathy It is a rarest condition, present since birth, that inhibits the ability to perceive physical pain in any part of their body. Over time, this lack of pain awareness can lead to an accumulation of injuries and health issues that may affect life expectancy. ETIOLOGY: 1) Autosomal Recessive caused by mutation SCN9A gene but Type 2 is Autosomal Dominant due to mutation in HSN2 2) Pt. doesn't feel pain due to increased production of endorphins in the brain and 3) His both myelinated and unmylinated fibres get damage. Apart from several injuries in whole body Children with this condition often sustain oral cavity damage both in and around the oral cavity (such as having bitten off the tip of their tongue) or fractures to bones. Tt: Multidisciplinary 1) iv antibiotics to reduce infections, 2) head and foot guards to reduce injury 3) oral guards 4) Naloxone- 0.25 micrograms/kg/hr ( block opioid receptors) Early Diagnosis and regular follow-up is required.. Life expectancy :7-9 years
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Interesting case Dr Haritma Nigam . Thank you for sharing. D/D-congenital insensitivity to pain (CIP) such cases are often referred to dental clinics for emergency management of acute oral trauma resulting from their neurological condition. Etiology- Hereditary Sensory and Autonomic Neuropathy (HSAN) type III. Management -soft occlusal guards to prevent dental self-mutilating injuries,education regarding foot care, changing posture to relieve continuous pressure on bones and joints can prevent the need of multiple surgeries for injuries . Medical treatment such as using amphetamines or dextroamphetamine for behavioral control of hyperactivity perhaps can further contribute to protect these children from physical injuries. A multidisciplinary team approach comprising the neurologist, psychologist, paediatrician and dentist shall collectively provide the holistic care approach.
@Kausar Yadwad well explained doc..
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Goodevening Dr. @Haritma Nigam ma'am, I agree with @Dr. Saloni Arora intellect in dx and Rx.I would like to add an interesting etiology- for congenital insensitivity- Mutation of SCN9A GENE responsible for this. SCN9A GENE instructs making of alpha subunits of Na channels called NaV1.7 As we know Na channels transport +ve Na ions into nerve cells resp. For generating and transmitting el.signals(sensory) mainly nociception and smell sensation. Due to mutation of SCN9A GENE, non-functional alpha subunits of Na produced, that can't be incorporated into Na channel, thereby resulting in impairment of transmission of nociception and olfaction. Ref.- U.S National library. Any correction will be most welcome.
very aptly narrated @Dr. Ashish Tiwari
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Seems to be a case of Congenital Insensitivity to pain or Congenital analgesia, D/D could be Autism. It occurs due to increased production of endorphins in the brain.  In this case, naloxone may be a treatment of choice. Patients with such mutations are congenitally insensitive to pain and lack other neuropathies.
I am proud of you...
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Gud1
Thank you doctor
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Yeah this ws really very Fascinating case I came across while doing my PG @Ashish Tiwari @Abhishek Dubey @Dr. Saloni Arora @Kausar Yadwad Though I answered very precisely here is the link below of the article published by me, you can get more detail http://ijmdcr.com/ejournals/ShowText.aspx?ID=81&Type=FREE&TYP=TOP&IN=_eJournals/images/JPLOGO.gif&IID=5&isPDF=NO
This case reminds me of a person who can put his hand in boiling oil and still he feels nothing... It's there on YouTube...many of us might have seen it also.
Yup Evn I heard of D same but we leave such things by laughing at / thinking of some Miracle till we come across scientifically....
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Congenital Insensitivity to pain Autosomal recessive inheritance SCN 9A gene mutations Type of peripheral neuropathy Reduced life expectancy
Thank you doctor
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Excellent Case @Dr. Haritma Nigam mam. Very aptly explained.
Thnku so much dear @Dr. Saloni Arora
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Nice post thanks for sharing
Thnku so much Sir
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