scholarly journals Two Case Reports of Hereditary Sensory Autonomic Neuropathy Type IV

2020 ◽  
Vol 9 (4) ◽  
pp. 307-310
Author(s):  
QURAT-UL-AIN KHALID
Keyword(s):  
Autonomic Neuropathy ◽  
Case Reports ◽  
Definitive Treatment ◽  
Recurrent Fever ◽  
Type Iv ◽  
Self Mutilation ◽  
Congenital Insensitivity ◽  
History Of ◽  
Congenital Insensitivity To Pain ◽  
Uncommon Condition

Hereditary Sensory Autonomic Neuropathy type IV (HSAN-IV), previously known as congenital insensitivity to pain and anhidrosis (CIPA), is an uncommon condition that presents in infancy with repeated episodes of fever, loss of pain sensations and self-mutilation. We are reporting two patients from two different families. Both patients had history of recurrent fever, anhidrosis, and pain insensitivity and self-mutilation behavior. Both had delayed motor developmental milestones with cognitive impairment. Clinical diagnosis of HSAN type IV was made on the basis of history, clinical examination and excluding other possible causes. Diagnosis of this rare disease is commonly delayed and patients ultimately develop complications. As there is no definitive treatment, these patients and their families should receive proper education and counselling for rehabilitation

scholarly journals Office-Based Anesthetic and Oral Surgical Management of a Child With Hereditary Sensory Autonomic Neuropathy Type IV: A Case Report

2018 ◽  
Vol 65 (3) ◽  
pp. 181-186
Author(s):  
Shamit Prabhu ◽  
Kevin Fortier ◽  
Lisa Newsome ◽  
Uday N. Reebye
Keyword(s):  
General Anesthesia ◽  
Autonomic Neuropathy ◽  
Genetic Disorder ◽  
Anesthetic Management ◽  
Hospital Setting ◽  
Temperature Sensation ◽  
Type Iv ◽  
Congenital Insensitivity ◽  
Congenital Insensitivity To Pain ◽  
Insensitivity To Pain

Hereditary sensory and autonomic neuropathy type IV (HSAN IV), or congenital insensitivity to pain with anhidrosis, is an exceptionally rare genetic disorder that results in the complete loss of pain and temperature sensation as well as anhidrosis. Anesthetic management of these patients can be difficult because of significantly increased risks during general anesthesia. Literature on perioperative anesthetic management is typically written in the context of a hospital setting. As such, our case presents a unique report on the anesthetic management of a HSAN IV patient who presented for extraction of 2 teeth in an office-based setting. In determining how to safely manage the procedure, we decided against general anesthesia as we lacked the facilities and equipment to safely handle previously reported complications. We were successful in providing sedation with nitrous oxide in oxygen and applying 20% benzocaine topical ointment on the surgical site in lieu of administering general anesthesia. We had an anesthesiologist present and obtained intravenous access prior to the surgery to help manage any complications. This report provides support that simple dental extractions can be accomplished safely in the HSAN IV patient in the office-based setting, thereby avoiding unnecessary risk.

scholarly journals Oral Management of Hereditary Sensory and Autonomic Neuropathy Type V: A Rare Case Report

2021 ◽  
Vol 5 (2) ◽  
Keyword(s):  
Autonomic Neuropathy ◽  
Autosomal Recessive ◽  
Self Mutilation ◽  
Congenital Insensitivity ◽  
Different Types ◽  
Rare Case Report ◽  
Congenital Insensitivity To Pain ◽  
Type V ◽  
Insensitivity To Pain ◽  
Rare Autosomal Recessive Disease

Hereditary sensory and autonomic neuropathies (HSAN) are rare diseases. Five different types are described. Hereditary sensory and autonomic neuropathy type V, also known as congenital insensitivity to pain, is a rare autosomal recessive disease seen in early childhood. Self-mutilation is an invariable feature of this disorder involving the teeth, tongue, lips, and fingers. This report described the case of a 2-year-old baby boy who had self-mutilating injuries to her tongue and hands, caused by biting. Protective splints were given to the patient to prevent further self-mutilation.

Self-mutilation and mental retardation: clues to congenital insensitivity to pain with anhidrosis

2004 ◽  
Vol 144 (2) ◽  
pp. 284 ◽  
Author(s):  
Dimitrios I. Zafeiriou ◽  
Euthymia Vargiami ◽  
Marina Economou ◽  
Nikolaos Gombakis
Keyword(s):  
Mental Retardation ◽  
Self Mutilation ◽  
Congenital Insensitivity ◽  
Congenital Insensitivity To Pain ◽  
Insensitivity To Pain

scholarly journals Congenital insensitivity to pain with anhidrosis and multiple Charcot joints in a child: A case report

2021 ◽  
Vol 0 ◽  
pp. 1-5
Author(s):  
Omar Ali Batouk ◽  
Mohammed Marzoog Almutairi ◽  
Majd Amjed Saemaldahar ◽  
Badr Zuhair Ambon
Keyword(s):  
Multiple Fractures ◽  
Causative Gene ◽  
Type Iv ◽  
Congenital Insensitivity ◽  
Walking Aids ◽  
Joint Dislocations ◽  
Charcot Joints ◽  
Congenital Insensitivity To Pain ◽  
Tyrosine Receptor Kinase ◽  
Insensitivity To Pain

Congenital insensitivity to pain with anhidrosis (CIPA) syndrome is a rare autosomal recessive condition affecting various tracts in the peripheral and autonomic nervous system. CIPA has an incidence of 1/125,000,000. The only known causative gene to date is neurotrophic tyrosine receptor kinase 1 (NTRK1), which is located on chromosome 1q21-q22. The mutation in the NTRK1 gene is associated with consanguineous marriages. Manifestations of this condition are highly variable, with insensitivity to pain being the mainstay. Patients are commonly presented with bruises, joint dislocations, multiple fractures, oral manifestations, and disfigured joints. We present a rare case of a CIPA patient manifested with Charcot’s joints. A 15-year-old male presented with multiple destructed joints in both knees, ankles, and wrists. He uses walking aids and has a loss of response to painful stimuli. The condition started at the age of 7 years. Other manifestations were fever, anhidrosis, mental retardation, and self-mutilating behaviors. The parents have a consanguineous marriage. Nerve and muscle biopsies were obtained and revealed no significant pathological abnormalities. However, imaging showed grossly disorganized joints and the clinical diagnosis of CIPA was confirmed. As illustrated in this case, the occurrence of CIPA syndrome, hereditary sensory and autonomic neuropathy Type IV, remains highly unprecedented and genetic testing is mandatory for the diagnosis. In addition, nerve and muscle biopsy should be obtained, and advanced imaging such as magnetic resonance imaging is needed to evaluate the case fully. There is no definitive therapeutic intervention for this condition, therefore, education and prevention are important to improve the quality of life of a CIPA patient.

scholarly journals Painless: a case of congenital insensitivity to pain in a 5-year-old male

2020 ◽  
Vol 2020 (7) ◽  
Author(s):  
H H Al Amroh ◽  
A L Reyes ◽  
J Barret Austin Hillary ◽  
W H Al Khaffaf
Keyword(s):  
Child Abuse ◽  
Genetic Disorders ◽  
Occurrence Rate ◽  
Congenital Insensitivity ◽  
History Of ◽  
Congenital Insensitivity To Pain ◽  
The One ◽  
Recurrent Injuries ◽  
Insensitivity To Pain

Abstract Background: several genetic disorders are known to be associated with congenital insensitivity to pain (CIP), a term often used to describe an impaired ability to perceive the type, intensity and quality of noxious stimuli. Children with CIP often injure themselves severely. The injury can go unnoticed or be misdiagnosed as child abuse because it is associated with multiple and recurrent injuries which may result in permanent damage. Patient findings: we report the case of a 5-year-old boy with a history of showing no signs of pain when exposed to accidental injuries such as trauma, burns or secondary chronic lesions. Conclusion: child abuse has a much higher occurrence rate than rare neuropathies such as the one we describe. However, CIP should be considered as a diagnosis in any child presenting with a history of poor or absent responses to painful stimuli.

scholarly journals Autoamputation of Genitalia in Bipolar Patient

2017 ◽  
Vol 2017 ◽  
pp. 1-3
Author(s):  
Vinod Sharma ◽  
Aditi Sharma
Keyword(s):  
Bipolar Disorder ◽  
Psychotic Disorders ◽  
Case Reports ◽  
Bipolar Patient ◽  
Type Ii ◽  
Sexual Offences ◽  
Self Mutilation ◽  
History Of ◽  
Disorder Type ◽  
Married Male

According to literature, genital self-mutilation (GSM) is more commonly associated with psychosis as compared with self-mutilation as a whole. There have been many case reports of GSM in psychotic disorders. We describe herein a case of a Caucasian, employed, and married male suffering from bipolar disorder type II with history of self-mutilating behavior, who amputated his penis during symptom-free phase of his illness. Several features are reflected as risky elements for genital self-mutilation, for example, homosexual and transsexual tendencies, abandonment of the male genitals, lack of competent male for identification during childhood, feeling of guilt for sexual offences, and self-injuries in anamnesis. This report will highlight various factors responsible for self-mutilation in nonpsychotic and nondelusional person.

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