SCN9A channelopathy associated autosomal recessive Congenital Indifference to Pain. A case report. 2017

S Rajasekharan, and L Martens, and L Domingues, and R Cauwels
Department of Paediatric Dentistry & Special Care, PAECOMEDIS research cluster, Ghent University, Ghent, Belgium.

BACKGROUND Congenital Indifference to Pain (CIP) is a rare condition that inhibits the ability of patients to perceive physical pain but otherwise keeps normal sensory modalities. The condition has been mapped to an autosomal recessive trait to chromosome 2q 24.3 with mutations on the SCN9A gene. METHODS A 2 year old Caucasian female presented with CIP. Bite injuries, tongue wounds and unaccounted dental trauma episodes were frequently reported. Preventive instructions and possible treatment modalities were discussed with the parents. CONCLUSIONS The cornerstone of treating CIP patients is an extensive preventive approach alongside regular oral examination at home by parents as well as routine recall appointments with dentists.

UI MeSH Term Description Entries
D009055 Mouth The oval-shaped oral cavity located at the apex of the digestive tract and consisting of two parts: the vestibule and the oral cavity proper. Oral Cavity,Cavitas Oris,Cavitas oris propria,Mouth Cavity Proper,Oral Cavity Proper,Vestibule Oris,Vestibule of the Mouth,Cavity, Oral
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000699 Pain Insensitivity, Congenital A syndrome characterized by indifference to PAIN despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and INTELLECTUAL DISABILITY may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343) Analgesia, Congenital,Pain Indifference, Congenital,Channelopathy-Associated Insensitivity To Pain,Congenital Analgesia,Congenital Indifference to Pain,Congenital Insensitivity To Pain,Congenital Pain Indifference,Congenital Pain Insensitivity,Insensitivity To Pain, Congenital,Insensitivity, Congenital Pain,Congenital Pain Indifferences
D053447 Channelopathies A variety of neuromuscular conditions resulting from MUTATIONS in ION CHANNELS manifesting as episodes of EPILEPSY; HEADACHE DISORDERS; and DYSKINESIAS. Channelopathy
D062556 NAV1.7 Voltage-Gated Sodium Channel A voltage-gated sodium channel subtype found widely expressed in nociceptive primary sensory neurons. Defects in the SCN9A gene, which codes for the alpha subunit of this sodium channel, are associated with several pain sensation-related disorders. Peripheral Sodium Channel 1,SCN9A Sodium Channel alpha Subunit,Type 9 Voltage-Gated Sodium Channel,Voltage-Gated Sodium Channel Type 9,Voltage-Gated Sodium Channel Type 9 Subunit alpha,NAV1.7 Voltage Gated Sodium Channel,Type 9 Voltage Gated Sodium Channel,Voltage Gated Sodium Channel Type 9,Voltage Gated Sodium Channel Type 9 Subunit alpha

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