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.

scholarly journals Congenital Insensitivity to Pain: A Case Report and Review of the Literature

2014 ◽  
Vol 2014 ◽  
pp. 1-4 ◽  
Author(s):  
Leema Reddy Peddareddygari ◽  
Kinsi Oberoi ◽  
Raji P. Grewal
Keyword(s):  
Genetic Disease ◽  
Autosomal Recessive ◽  
Lumbosacral Spine ◽  
Review Of The Literature ◽  
Secondary Complications ◽  
Congenital Insensitivity ◽  
Electrophysiological Studies ◽  
Congenital Insensitivity To Pain ◽  
Insensitivity To Pain ◽  
Spine Disease

Congenital insensitivity to pain (CIP) is a rare autosomal recessive genetic disease caused by mutations in theSCN9Agene. We report a patient with the clinical features consistent with CIP in whom we detected a novel homozygous G2755T mutation in exon 15 of this gene. Routine electrophysiological studies are typically normal in patients with CIP. In our patient, these studies were abnormal and could represent the consequences of secondary complications of cervical and lumbosacral spine disease and associated severe Charcot’s joints.

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 Hereditary sensory autonomic neuropathy type V: a rare case report

2018 ◽  
Vol 5 (2) ◽  
pp. 670
Author(s):  
Madhura S. ◽  
Sowrabha . ◽  
Manjunath . ◽  
Savitha M. R.
Keyword(s):  
Autonomic Neuropathy ◽  
Clinical Manifestations ◽  
Corneal Opacity ◽  
Female Child ◽  
Chromosome 1 ◽  
Tyrosine Kinase Receptor ◽  
Self Mutilation ◽  
Rare Case Report ◽  
Autosomal Recessive Condition ◽  
Type V

Hereditary sensory autonomic neuropathy (HSAN) type V is a rare autosomal recessive condition caused by mutation in neurotrophic tyrosine kinase receptor type 1 gene located on chromosome 1 (1q21-1q22). It is characterized by pain insensitivity, partial anhydrosis without mental retardation and unimpaired touch and pressure sensitivity. Self-mutilation injury involving teeth, lips, tongue, ears, eyes, nose and fingers are invariable feature of this disorder. This rare disorder can be extremely challenging for the physicians as the symptoms like pain, tenderness is absent and hence most of the symptoms and injuries are frequently missed. Here we report a case of 1-year old female child with HSAN type V, having the typical clinical manifestations of pain insensitivity causing self-mutilation. Apart from the classical manifestations of HSAN type V, our case also had bilateral corneal opacity.

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 Congenital Insensitivity to Pain without Anhidrosis: Orodental Problems and Management

2015 ◽  
Vol 2015 ◽  
pp. 1-4
Author(s):  
N. Abdullah ◽  
Kausar Sadia Fakhruddin ◽  
A. R. Samsudin
Keyword(s):  
Male Patient ◽  
Lower Limb ◽  
Premature Mortality ◽  
Wound Infections ◽  
Finger Injuries ◽  
Anterior Teeth ◽  
Self Mutilation ◽  
Congenital Insensitivity ◽  
Congenital Insensitivity To Pain ◽  
Insensitivity To Pain

This paper reports the case of a 4-year-old male patient who was brought by parents requesting for replacement of multiple missing anterior teeth. The patient suffered from congenital insensitivity to pain without anhidrosis and presented with full blown sequelae of the condition in the form of oral self-mutilation leading to loss of teeth, tongue tip amputation, finger tips destruction, and lower limb wound infections. Dental and orthopaedic treatment consists of local management of oral wound and prevention from further oral and finger injuries that takes the form of dental splints and finger sleeve splints, constant feet coverage with shoes, and behavioural medical therapy. The age of the patient and parents’ education present challenges in managing this condition to avoid morbidity and premature mortality.

Single-Fiber Recordings of Nociceptive Fibers in Patients With HSAN Type V With Congenital Insensitivity to Pain

2016 ◽  
Vol 32 (7) ◽  
pp. 636-642 ◽  
Author(s):  
Dagrun Sagafos ◽  
Inge P. Kleggetveit ◽  
Tormod Helås ◽  
Roland Schmidt ◽  
Jan Minde ◽  
...  
Keyword(s):  
Single Fiber ◽  
Congenital Insensitivity ◽  
Congenital Insensitivity To Pain ◽  
Nociceptive Fibers ◽  
Type V ◽  
Insensitivity To Pain

scholarly journals Unilateral lytic changes over the weight-bearing joint causing severe destruction of ankle joint (atypical Charcot joint) in a girl with congenital insensitivity to pain without anhidrosis (hereditary sensory and autonomic neuropathy type V): Case report and literature review

2019 ◽  
Vol 7 (1) ◽  
pp. 81-86
Author(s):  
Ali Al Kaissi ◽  
Franz Grill ◽  
Rudolf Ganger
Keyword(s):  
Ankle Joint ◽  
Autonomic Neuropathy ◽  
Treatment Plan ◽  
Joint Destruction ◽  
Autonomic Nerve ◽  
Congenital Insensitivity ◽  
Joint Dislocations ◽  
Tarsal Bones ◽  
Congenital Insensitivity To Pain ◽  
Insensitivity To Pain

Background. The presence of Charcot arthropathies, joint dislocations, infections and fractures in a child without evidence of neurological abnormality should give rise to a suspicion of congenital insensitivity to pain (hereditary sensory and autonomic neuropathy). Hereditary sensory and autonomic neuropathy (HSAN) is a rare syndrome characterized by congenital insensitivity to pain, temperature changes and by autonomic nerve formation disorders. HSAN is classified into five types: sensory radicular neuropathy (HSAN I), congenital sensory neuropathy (HSAN II), familial dysautonomia or Riley Day Syndrome (HSAN III), congenital insensitivity to pain with anhidrosis (HSAN IV) and congenital indifference to pain (HSAN V). Case presentation. A 13-year old girl first product of a non-consanguineous marriage, presented with malunion of successive fractures or Charcots ankle joint destruction on top of significant lytic changes/osteonecrosis. The patient had sustained many painless injuries resulting in fractures with subsequent disfiguremnt of her ankle joint. Arthropathy of the knees, ankles, tarsal bones and feet without pain associated with obvious changes in the shape of the ankle joint were present. Despite a normal sense of touch in our patient the indifference to pain made her extremely susceptible to breakdown of the skin over the ankle osseous prominences. Conclusion. Generally speaking, the orthopaedic management of such patients is extremely difficult since these patients do not restrict the movements of the involved extremity as they lack the inhibitory pain reflex. Interestingly, our attempts for surgical stabilisation of the ankle joints were succsessfull and eventually the girl became able to walk. It is important to anticipate patient and parent education in joint protection and surveillance for injury as the most important component of the treatment plan for these children. We might postulate that the degree of osteolysis of the ankle joint in our present child might be a form of secondary osteolysis.

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