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Congenital Insensitivity to Pain With Anhidrosis: First Reported Case in Nepal [PDF]

Clinical Case Reports
Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder characterized by anhidrosis, self‐mutilation, and insensitivity to pain and temperature.
Sobin Pant, Dibij Adhikari, Prakash Pandey, Binit Bajracharya, Rizuna Sharma   +4 more
doaj   +3 more sources

Boy in the Barrel: Excruciating Paroxysmal Pain Disorder Associated With an SCN9A Gain-of-Function Variant. [PDF]

J Peripher Nerv Syst
ABSTRACT Background and Aims Gain‐of‐function variants in SCN9A, encoding the Nav1.7 sodium channel, cause inherited painful neuropathic disorders. We report a young man with severe childhood‐onset heat‐triggered paroxysmal pain, autonomic dysfunction, skeletal abnormalities, and a de novo SCN9A p.Ile234Thr variant, emphasizing the diagnostic and ...
Tomaselli PJ, Frezatti RSS, Record CJ, Schiavoni MCL, Dominik N, Vandrovcova J, Reilly MM, Marques W.   +7 more
europepmc   +2 more sources

Single-Stage Uterovaginal Anastomosis: A Surgical Solution for Primary Amenorrhea Due to Vaginal Agenesis: A Case Series. [PDF]

Clin Case Rep
ABSTRACT Here we present follow up of 3 cases of mid vaginal atresia and a functional uterus treated by single stage utero vaginal anastomosis using rectal tube insertion in uterus (for drainage) simultaneously with the amnion graft for vaginoplasty. This procedure successfully restored regular menstruation with fertility preservation and low morbidity.
Askary E, Parsaiyan Z, Zakaria NA, Alborzi S, Poordast T, Alamdarlo SM.   +5 more
europepmc   +2 more sources

Early clinical diagnosis of congenital insensitivity to pain with anhidrosis in an infant: a case report [PDF]

Frontiers in Pediatrics
Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare autosomal recessive disorder. Its core clinical manifestations include profound pain insensitivity, generalized anhidrosis, and subsequent recurrent hyperthermia.
Ziqing Tang, Ziqing Tang, Fenfen Xu, Piaopiao Zhang, Jing Zhang, Xinyu Kang, Hongyang Zhao, Hongyang Zhao   +7 more
doaj   +2 more sources

Müllerian Agenesis Presenting as Primary Amenorrhea in a 16-Year-Old Girl From a Low-Resource Setting in Bangladesh: Psychological Impact and Multidisciplinary Management. [PDF]

Clin Case Rep
ABSTRACT Müllerian agenesis (MRKH syndrome) causes primary amenorrhea in phenotypically normal females. We report a 16‐year‐old girl with normal secondary sexual characteristics, a short blind vagina, absent uterus on ultrasonography, and a 46,XX karyotype.
Sakib IA, Shumi MS, Sultana R, Perveen A, Tasnim N, Munira S.   +5 more
europepmc   +2 more sources

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome. [PDF]

Ann Clin Transl Neurol
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Kumar N, Johnson J, Watkins S, Mulroy E.
europepmc   +2 more sources

Vulnerability and Pediatric Pain. [PDF]

Paediatr Neonatal Pain
ABSTRACT Healthcare disparities amplify vulnerabilities in infants and children. In the context of pain, vulnerable individuals are those whose pain often goes under‐appreciated, ‐recognized, or ‐treated. Vulnerability to pain arises due to multiple and interacting sources including inherent vulnerability, situational vulnerability, and pathogenic ...
van Rysewyk S, Harrison D, Harvey A, Ilhan E.   +3 more
europepmc   +2 more sources

Bizarre Parosteal Osteochondromatous Proliferation of the Foot: Case Report and Review of Cases Published in the Last 15 Years [PDF]

Clin Case Rep
ABSTRACT Bizarre parosteal osteochondromatous proliferation is an exceedingly rare bone tumor that mimics malignant lesions both clinically and radiologically. Atypical imaging findings, such as cortical erosion, may bias the differential diagnosis toward malignant tumors.
Kerbel J, de León‐Sandoval I, Rucobo E, Berebichez‐Fridman R, Berebichez‐Fastlicht E.   +4 more
europepmc   +2 more sources

Uncovering oral and maxillofacial clues in congenital insensitivity to pain with anhidrosis: what can sibling cases teach us? [PDF]

BMC Oral Health
Background Congenital Insensitivity to Pain with Anhidrosis (CIPA) is an extremely rare congenital disorder characterized by severe clinical and oral manifestations.
Katibe Tugce Temur
doaj   +2 more sources

Congenital Insensitivity to Pain and Anhydrosis: A Report of Two Cases

Journal of Orthopaedic Surgery, 2013
We report on 2 patients with congenital insensitivity to pain and anhydrosis. The first one was a 7-month-old boy who presented with non-traumatic, haematogenous septic dislocation of the right elbow with physeal separation of the distal humerus.
Maharajan Karthikeyan, Thimmaiah Sreenivas, Jagdish Menon, Dilip Kumar Patro   +3 more
doaj   +2 more sources