title: Congenital insensitivity to pain and anhidrosis: Case report and review of findings along neuro-immune axis in the disorder.
abstract: Congenital insensitivity to pain and anhidrosis (CIPA) is one of the hereditary autonomic and sensory neuropathies. Typically presenting in infancy, it manifests as hyperpyrexia from defects in sweating (autonomic) and self-mutilating injuries from pain insensitivity (sensory). CIPA being rare in North America, diagnosis is often missed due to variable presentation. Subsequent management of its complications is therefore delayed. We report an unusual presentation in a 2-year-old girl with preexisting diagnosis of CIPA who was evaluated for bilateral upper extremity paresis of insidious onset. MRI revealed a mass compressing her cervical spine as the cause, and work up suggested immune dysfunction as possible etiology. To our knowledge, this complication has not been reported before in association with the disease. We introduce the disease by explaining the molecular pathology behind its presenting features. The neurological findings, documented in association with CIPA, are summarized and serve as a reference for the various presentations of this rare disorder. Since this disease is known to affect the immune system, immune defects in CIPA are discussed with recommendations for surveillance of patient's immune status.
authors: Louisiana State University Health Sciences Center, Department of Neurology, United States.
authors: Aditi Vian
authors: AV
authors: Varma
authors: Department of Neurosurgery, Children's Hospital New Orleans, LA, United States.
authors: Lori
authors: L
authors: McBride
authors: Division of Clinical Genetics, Department of Pediatrics, Children's Hospital New Orleans, LA, United States. Electronic address: mmarbl1@lsuhsc.edu.
authors: Michael
authors: M
authors: Marble
authors: Louisiana State University Health Sciences Center, Department of Neurology, United States; Department of Neurology, Children's Hospital New Orleans, LA, United States. Electronic address: atilto@lsuhsc.edu.
authors: Ann
authors: A
authors: Tilton
mesh_terms: D002675:Child, Preschool; D005260:Female; D006801:Humans; D007007:Hypohidrosis / Q000150:complications* / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000276:immunology*; D000699:Pain Insensitivity, Congenital / Q000150:complications* / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000276:immunology*; D013118:Spinal Cord Diseases / Q000150:complications* / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000276:immunology*
keywords: CIPA; Cervical spine mass; HSAN IV; Immune defects; NGF-NTRK1; Neuro-immune axis