Medical Dialogues
  • Dermatology
Login Register
This site is intended for healthcare professionals only
Login Register
  • MD Brand Connect
  • Vaccine Hub
  • MDTV
    • Breaking News
    • Medical News Today
    • Health News Today
    • Latest
    • Journal Club
    • Medico Legal Update
    • Latest Webinars
    • MD Shorts
    • Health Dialogues
  • Fact Check
  • Health Dialogues
Medical Dialogues
  • Medical News & Guidelines
      • Anesthesiology
      • Cardiology and CTVS
      • Critical Care
      • Dentistry
      • Dermatology
      • Diabetes and Endocrinology
      • ENT
      • Gastroenterology
      • Medicine
      • Nephrology
      • Neurology
      • Obstretics-Gynaecology
      • Oncology
      • Ophthalmology
      • Orthopaedics
      • Pediatrics-Neonatology
      • Psychiatry
      • Pulmonology
      • Radiology
      • Surgery
      • Urology
      • Laboratory Medicine
      • Diet
      • Nursing
      • Paramedical
      • Physiotherapy
  • Health news
      • Doctor News
      • Government Policies
      • Hospital & Diagnostics
      • International Health News
      • Medical Organization News
      • Medico Legal News
      • NBE News
      • NMC News
  • Fact Check
      • Bone Health Fact Check
      • Brain Health Fact Check
      • Cancer Related Fact Check
      • Child Care Fact Check
      • Dental and oral health fact check
      • Diabetes and metabolic health fact check
      • Diet and Nutrition Fact Check
      • Eye and ENT Care Fact Check
      • Fitness fact check
      • Gut health fact check
      • Heart health fact check
      • Kidney health fact check
      • Medical education fact check
      • Men's health fact check
      • Respiratory fact check
      • Skin and hair care fact check
      • Vaccine and Immunization fact check
      • Women's health fact check
  • AYUSH
    • Ayurveda
    • Homeopathy
    • Siddha
    • Unani
    • Yoga
  • State News
      • Andaman and Nicobar Islands
      • Andhra Pradesh
      • Arunachal Pradesh
      • Assam
      • Bihar
      • Chandigarh
      • Chattisgarh
      • Dadra and Nagar Haveli
      • Daman and Diu
      • Delhi
      • Goa
      • Gujarat
      • Haryana
      • Himachal Pradesh
      • Jammu & Kashmir
      • Jharkhand
      • Karnataka
      • Kerala
      • Ladakh
      • Lakshadweep
      • Madhya Pradesh
      • Maharashtra
      • Manipur
      • Meghalaya
      • Mizoram
      • Nagaland
      • Odisha
      • Puducherry
      • Punjab
      • Rajasthan
      • Sikkim
      • Tamil Nadu
      • Telangana
      • Tripura
      • Uttar Pradesh
      • Uttrakhand
      • West Bengal
  • Medical Education
      • Ayush Education News
      • Dentistry Education News
      • Medical Admission News
      • Medical Colleges News
      • Medical Courses News
      • Medical Universities News
      • Nursing education News
      • Paramedical Education News
      • Study Abroad
  • Industry
      • Health Investment News
      • Health Startup News
      • Medical Devices News
      • Pharma News
      • Pharmacy Education News
      • Industry Perspective
  • MDTV
      • Health Dialogues MDTV
      • Health News today MDTV
      • Latest Videos MDTV
      • Latest Webinars MDTV
      • MD shorts MDTV
      • Medical News Today MDTV
      • Medico Legal Update MDTV
      • Top Videos MDTV
      • Health Perspectives MDTV
      • Journal Club MDTV
      • Medical Dialogues Show
This site is intended for healthcare professionals only
LoginRegister
Medical Dialogues
LoginRegister
  • Home
  • Medical news & Guidelines
    • Anesthesiology
    • Cardiology and CTVS
    • Critical Care
    • Dentistry
    • Dermatology
    • Diabetes and Endocrinology
    • ENT
    • Gastroenterology
    • Medicine
    • Nephrology
    • Neurology
    • Obstretics-Gynaecology
    • Oncology
    • Ophthalmology
    • Orthopaedics
    • Pediatrics-Neonatology
    • Psychiatry
    • Pulmonology
    • Radiology
    • Surgery
    • Urology
    • Laboratory Medicine
    • Diet
    • Nursing
    • Paramedical
    • Physiotherapy
  • Health news
    • Doctor News
    • Government Policies
    • Hospital & Diagnostics
    • International Health News
    • Medical Organization News
    • Medico Legal News
    • NBE News
    • NMC News
  • Fact Check
    • Bone Health Fact Check
    • Brain Health Fact Check
    • Cancer Related Fact Check
    • Child Care Fact Check
    • Dental and oral health fact check
    • Diabetes and metabolic health fact check
    • Diet and Nutrition Fact Check
    • Eye and ENT Care Fact Check
    • Fitness fact check
    • Gut health fact check
    • Heart health fact check
    • Kidney health fact check
    • Medical education fact check
    • Men's health fact check
    • Respiratory fact check
    • Skin and hair care fact check
    • Vaccine and Immunization fact check
    • Women's health fact check
  • AYUSH
    • Ayurveda
      • Ayurveda Giuidelines
      • Ayurveda News
    • Homeopathy
      • Homeopathy Guidelines
      • Homeopathy News
    • Siddha
      • Siddha Guidelines
      • Siddha News
    • Unani
      • Unani Guidelines
      • Unani News
    • Yoga
      • Yoga Guidelines
      • Yoga News
  • State News
    • Andaman and Nicobar Islands
    • Andhra Pradesh
    • Arunachal Pradesh
    • Assam
    • Bihar
    • Chandigarh
    • Chattisgarh
    • Dadra and Nagar Haveli
    • Daman and Diu
    • Delhi
    • Goa
    • Gujarat
    • Haryana
    • Himachal Pradesh
    • Jammu & Kashmir
    • Jharkhand
    • Karnataka
    • Kerala
    • Ladakh
    • Lakshadweep
    • Madhya Pradesh
    • Maharashtra
    • Manipur
    • Meghalaya
    • Mizoram
    • Nagaland
    • Odisha
    • Puducherry
    • Punjab
    • Rajasthan
    • Sikkim
    • Tamil Nadu
    • Telangana
    • Tripura
    • Uttar Pradesh
    • Uttrakhand
    • West Bengal
  • Medical Education
    • Ayush Education News
    • Dentistry Education News
    • Medical Admission News
    • Medical Colleges News
    • Medical Courses News
    • Medical Universities News
    • Nursing education News
    • Paramedical Education News
    • Study Abroad
  • Industry
    • Health Investment News
    • Health Startup News
    • Medical Devices News
    • Pharma News
      • CDSCO (Central Drugs Standard Control Organisation) News
    • Pharmacy Education News
    • Industry Perspective
  • Home
  • Orthopaedics
  • Rare case of...

Rare case of Hereditary Sensory and Autonomic Neuropathy Type II in female child with multiple orthopaedic ailments

Written By : Dr Supreeth D R |Medically Reviewed By : Dr. Kamal Kant Kohli Published On 2022-08-23T09:00:26+05:30  |  Updated On 23 Aug 2022 3:01 PM IST
Rare case of Hereditary Sensory and Autonomic Neuropathy Type II in female child with multiple orthopaedic ailments
  • facebook
  • twitter
  • linkedin
  • whatsapp
  • Telegram
  • Email

HSAN Type II is a rare disease, and in the few cases that have been reported, the focus has been on identifying genetic markers of the disease. In poor socioeconomic conditions, reaching a definitive diagnosis through genetic analysis is not mandatory, as the management for all types of HSAN remains the same. Orthopaedic conditions may be a major presentation of the disease, and the prevention of superficial trauma and foot care is the only effective management.

A 10-year-old female child of poor socioeconomic status presented for the first time with fever since 2 weeks and swelling since 2 weeks of the left knee joint. There was no history of associated pain.

She previously underwent amputation for her right second and third toe due to self-mutilation of the toes and subsequent osteomyelitis at 4 years of age. She also underwent left knee arthrotomy and lavage for septic arthritis at 7 years of age and 9 years of age at a local hospital near her village.

The parent of the child gave history of self-mutilation of the fingers, toes, and lips (lip-biting) since 2 years of age. Parents also gave history of reduced pain sensation and temperature sensation. The parent complained of dryness of the child's skin and reduced sweating. There was no history of any other autonomic symptoms, such as gastroesophageal reflux.

The child was born of a non-consanguineous marriage. It was a preterm normal delivery due to severe pre-eclampsia in the mother. She did not receive any neonatal intensive care. She is the oldest of the three children. The second child , aged 8 years, and the third child, aged 4 years, both exhibit symptoms of self-mutilation. The second child similarly has been admitted for repeated episodes of septic arthritis. No other members of the family are affected.

Developmental delay was present, with significant reduction in developmental quotient in the gross motor, fine, motor, language, and social and adaptive skills domains. The child has never walked. Intelligence quotient is reduced, and she attends first standard in school. Ophthalmologic and auditory examinations were normal.

On examination, the child was conscious, hyperactive, and febrile. Clubbing was present. Heterochromia was present. Multiple scars and deformities were present over the digits and the left knee joint. Skin was dry and hyperkeratotic with lack of hair on the skin. Cardiovascular, respiratory, and gastrointestinal examination was normal. Neurological examination showed lack of pain and temperature sensations. Deep tendon reflexes were normal. Motor examination showed reduced power and hypotonia in all limbs.

On local examination, the attitude of the left lower limb was neutral at the hip joint and semi-flexed at the knee joint. Effusion, local rise of temperature, and tenderness were present over the knee joint. A clinical diagnosis of septic arthritis of the left knee was confirmed by routine blood investigations, and histopathology of the knee synovium, and culture sensitivity of the aspirate revealed Klebsiella spp. as the organism. Knee radiograph showed destruction of articular surfaces.

Routine blood investigations and synovial fluid analysis of joint and culture and sensitivity of aspirate remained mainstay of diagnosis of septic arthritis. Standard radiographs of involved joint showed destruction of joint with subsequent presentations.

For the neurological symptoms and signs, the differential diagnoses considered were Lesch–Nyhan syndrome, HSAN Type IV, HSAN Type II, leprosy, and autosomal recessive immunodeficiency syndromes. A diagnosis of HSAN Type II was reached on a clinical basis following genetic counselling.

Patient underwent arthrotomy of joint and as joint was grossly destructed. The multiple episodes of septic arthritis in this child did not resolve with conventional intravenous (i.v) antibiotics and arthrotomy/arthroscopy and lavage, prompting the use of arthrodesis. Patient was planned for arthrodesis of joint after discussing with parents. She underwent Charnley's left knee arthrodesis and was managed with i.v. antibiotics. Following this, the child developed septic arthritis again in the left knee and culture of the aspirate revealed infection with Citrobacter spp. She was managed conservatively with i.v. antibiotics and recovered.

However, she sustained subtrochanteric fracture of femur which was managed accordingly which united eventually. Eventually left knee arthrodesis could be achieved. Similarly, for the next 3 years, the child developed multiple episodes of septic arthritis in the right knee. Initially, Charnley's arthrodesis was attempted in the right lower limb to preserve limb length, but as infection reoccurred, Ilizarov's arthrodesis was finally used. To resolve the osteomyelitis occurring and to maintain alignment of lower limb, an antibiotic bead-coated intramedullary nail splinting extending from femur to tibia was done, which also failed subsequently and removal of nail was done.

The most recent episode of osteomyelitis and septic arthritis in the right knee prompted use of arthrotomy and debridement due to the prolonged nature of the disease. Prevention of further episodes of septic arthritis and osteomyelitis through prevention of trauma and self-mutilation and proper foot care is the only definitive management. Option of therapeutic amputation was suggested; however, it was declined by relatives. Currently, child is on long knee immobiliser and on-and-of antibiotic coverage as disease flares up.

Outcome of this condition could be disastrous if proper supportive care is not given to patient. Child is being followed up in outpatient department monthly once. Child is clinically evaluated and routine hemogram is done to look for infective parameters.

Further reading:

Hereditary Sensory and Autonomic Neuropathy Type II in a Female Child with Multiple Orthopaedic Ailments: Diagnosis and Operative Management.

Surendra U. Kamath, Sunil Lakshmipura Krishnamurthy, Rajendra Annappa.

Indian Journal of Orthopaedics (2022) 56:1482–1487

https://doi.org/10.1007/s43465-022-00671-y

Hereditary Sensory and Autonomic NeuropathyPathological fracturesSeptic arthritisAcro-osteolysisSurendra U. KamathIndian Journal of Orthopaedics
Source : Indian Journal of Orthopaedics
Dr Supreeth  D R
Dr Supreeth D R

    MBBS, Dip. Ortho, DNB ortho, MNAMS

    Dr Supreeth D R (MBBS, Dip. Ortho, DNB ortho, MNAMS) is a practicing orthopedician with interest in medical research and publishing articles. He completed MBBS from mysore medical college, dip ortho from Trivandrum medical college and sec. DNB from Manipal Hospital, Bengaluru. He has expirence of 7years in the field of orthopedics. He has presented scientific papers & posters in various state, national and international conferences. His interest in writing articles lead the way to join medical dialogues. He can be contacted at editorial@medicaldialogues.in.

    Dr. Kamal Kant Kohli
    Dr. Kamal Kant Kohli

    Dr Kamal Kant Kohli-MBBS, DTCD- a chest specialist with more than 30 years of practice and a flair for writing clinical articles, Dr Kamal Kant Kohli joined Medical Dialogues as a Chief Editor of Medical News. Besides writing articles, as an editor, he proofreads and verifies all the medical content published on Medical Dialogues including those coming from journals, studies,medical conferences,guidelines etc. Email: drkohli@medicaldialogues.in. Contact no. 011-43720751

    Show Full Article
    Next Story

    Editorial

    Aspirin Use in Male Smokers Aged 40-45 Years with Hypertension: Identifying the Ideal Candidates

    Aspirin Use in Male Smokers Aged 40-45 Years with Hypertension: Identifying the Ideal Candidates

    National Consensus 2025 on Role of Bisoprolol Across CV Continuum in Women: Top 10 Takeaways

    National Consensus 2025 on Role of Bisoprolol Across CV Continuum in Women: Top 10 Takeaways

    Relevance of Pioglitazone in Indian T2DM Care Continuum

    Relevance of Pioglitazone in Indian T2DM Care Continuum

    Azmarda Outperforms Generic Sacubitril/Valsartan in HFrEF Management, says new study

    Azmarda Outperforms Generic Sacubitril/Valsartan in HFrEF Management, says new study

    First Indian Consensus on Managing Refractory Gastroesophageal Reflux Disease Recommends Vonoprazan

    First Indian Consensus on Managing Refractory Gastroesophageal Reflux Disease Recommends Vonoprazan

    View All

    Journal Club Today

    New Nasal Deformity Classification System May Enhance Standardization in Cleft Lip and Palate Assessment: Research Shows

    New Nasal Deformity Classification System May Enhance Standardization in Cleft Lip and Palate...

    View All

    Health News Today

    Health Bulletin 02/June/2025

    Health Bulletin 02/June/2025

    View All
    © 2022 All Rights Reserved.
    Powered By: Hocalwire
    X
    We use cookies for analytics, advertising and to improve our site. You agree to our use of cookies by continuing to use our site. To know more, see our Cookie Policy and Cookie Settings.Ok