Congenital Insensitivity TO Pain: A Case Report
نویسندگان
چکیده
Congenital insensitivity to pain or more scientifically Hereditary sensory and autonomic neuropathies (HSAN) is a rare genetic disorder which associates dysfunction with varying degree of dysfunction. Due the peripheral neuropathy, decreased sensitivity even complete anesthesia may be present resulting in, on ophthalmological level, neurotrophic ulcers. We report case 2 sisters (JM KM) presenting HSAN recurrent corneal Unfortunately, testing couldn’t performed due lack means, but clinical presentation features were very favourable pathognomonic this syndrome. The first cases reported individuals congenital goes back 1930’s. Five types hereditary neuropathy have been identified according age onset symptoms, affected gene. type IV also known as anhidrosis (CIPA) second most common HSAN. It caused by mutation in NTRK1(Neurotrophic tyrosine kinase receptor 1) (TRKA) gene located chromosome 1 (1q21-q22). characterized repetitive hyperthermic episodes infancy, mental retardation usually present, our case. Clinical symptoms manifest tongue, lip fingers biting, self-inflicted injuries. syndrome an absence altered response pain. Individuals can presented injuries auto-mutilation leading some severe disabilities. Long-term visual prognosis CIPA patients not assessed there’s important data regarding ocular manifestation CIP
منابع مشابه
Case Report: Congenital Insensitivity to Pain
Congenital Insensitivity to Pain belongs to the family of Hereditary Sensory and Autonomic Neuropathies (HSAN). It is a rare disorder of unknown etiology associated with loss of pain sensation. Cognition and sensation is otherwise normal and there is no detectable physical abnormality. We report a case of Congenital Insensitivity to Pain in a 3 year old female child.
متن کاملCongenital insensitivity to pain with anhidrosis: a case report.
We present a five-year-old girl with congenital insensitivity to pain with anhidrosis. A skeletal radiographic survey revealed several old fractures. Application of pilocarpine showed anhidrosis and nerve biopsy revealed a significant decrease in the number of myelinated and unmyelinated nerve fibres.
متن کاملCongenital Insensitivity to Pain with Anhidrosis (CIPA): A Case Report
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare disorder characterized by episodes of fever and the inability to sense of pain despite the fact that all other sensory modalities remain intact or minimally impaired. The patient also may exhibit the signs of self-mutilation, mental retardation and little or no perspiration. We present a 10 years old Iranian patient diagnosed wit...
متن کاملCase Report: Neuropathic pain in a patient with congenital insensitivity to pain
We report a unique case of a woman with Channelopathy-associated Insensitivity to Pain (CIP) Syndrome, who developed features of neuropathic pain after sustaining pelvic fractures and an epidural hematoma that impinged on the right fifth lumbar (L5) nerve root. Her pelvic injuries were sustained during painless labor, which culminated in a Cesarean section. She had been diagnosed with CIP as ch...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: European journal of medical and health sciences
سال: 2023
ISSN: ['2663-7529', '2663-7510']
DOI: https://doi.org/10.24018/ejmed.2023.5.4.1782