Literature DB >> 28096563

Congenital insensitivity to pain with anhidrosis in Sudanese children.

Suhair A Othman1, Amel A Malik1.   

Abstract

Congenital insensitivity to pain with anhidrosis (CIPA), also called hereditary sensory and autonomic neuropathy type IV (HSAN-IV), is an extremely rare autosomal recessive disease. It is characterized by insensitivity to pain, inability to sweat, episodes of hyperpyrexia, and intellectual disability. These factors render the affected persons to repeatedly injure and traumatise themselves to the degree that they become disabled. No specific treatment to the moment, but it needs multidisciplinary approach, and certain life adaptations and education. Here we report 4 unrelated Sudanese children affected with this rare neurological disorder, to raise the awareness on this rare disease, reflecting its spectrum, and the challenges which patients and their families face, especially when living in a hot country.

Entities:  

Keywords:  Anhidrosis; Congenital insensitivity to pain; Hereditary sensory and autonomic neuropathy type IV; Hyperpyrexia; Self-mutilation; Vitamin A toxicity

Year:  2016        PMID: 28096563      PMCID: PMC5237840     

Source DB:  PubMed          Journal:  Sudan J Paediatr        ISSN: 0256-4408


  9 in total

Review 1.  Recent advances in hereditary sensory and autonomic neuropathies.

Authors:  Kristien Verhoeven; Vincent Timmerman; Barbara Mauko; Thomas R Pieber; Peter De Jonghe; Michaela Auer-Grumbach
Journal:  Curr Opin Neurol       Date:  2006-10       Impact factor: 5.710

2.  Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies.

Authors:  S Shatzky; S Moses; J Levy; V Pinsk; E Hershkovitz; L Herzog; Z Shorer; A Luder; R Parvari
Journal:  Am J Med Genet       Date:  2000-06-19

3.  Epidemiology of hereditary sensory and autonomic neuropathy type IV and V in Japan.

Authors:  Nobuhiko Haga; Masaya Kubota; Zenzo Miwa
Journal:  Am J Med Genet A       Date:  2013-03-12       Impact factor: 2.802

Review 4.  Nerve growth factor and the physiology of pain: lessons from congenital insensitivity to pain with anhidrosis.

Authors:  Y Indo
Journal:  Clin Genet       Date:  2012-08-13       Impact factor: 4.438

5.  Congenital insensitivity to pain with anhidrosis: case report.

Authors:  N Kouvelas; C Terzoglou
Journal:  Pediatr Dent       Date:  1989-03       Impact factor: 1.874

6.  Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.

Authors:  G L Davidson; S M Murphy; J M Polke; M Laura; M A M Salih; F Muntoni; J Blake; S Brandner; N Davies; R Horvath; S Price; M Donaghy; M Roberts; N Foulds; G Ramdharry; D Soler; M P Lunn; H Manji; M B Davis; H Houlden; M M Reilly
Journal:  J Neurol       Date:  2012-08       Impact factor: 4.849

7.  A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis.

Authors:  Esther Sarasola; Jose A Rodríguez; Elisa Garrote; Javier Arístegui; Maria J García-Barcina
Journal:  BMC Med Genet       Date:  2011-06-27       Impact factor: 2.103

8.  Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.

Authors:  Annelies Rotthier; Jonathan Baets; Els De Vriendt; An Jacobs; Michaela Auer-Grumbach; Nicolas Lévy; Nathalie Bonello-Palot; Sara Sebnem Kilic; Joachim Weis; Andrés Nascimento; Marielle Swinkels; Moyo C Kruyt; Albena Jordanova; Peter De Jonghe; Vincent Timmerman
Journal:  Brain       Date:  2009-08-03       Impact factor: 13.501

9.  Congenital insensitivity to pain with anhidrosis.

Authors:  Edwin Dias; Siddu Charki
Journal:  J Pediatr Neurosci       Date:  2012-05
  9 in total
  1 in total

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

Authors:  Shamit Prabhu; Kevin Fortier; Lisa Newsome; Uday N Reebye
Journal:  Anesth Prog       Date:  2018
  1 in total

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