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2.
Article in French | AIM (Africa) | ID: biblio-1266231

ABSTRACT

Introduction : Nous rapportons le cas d'une indifférence congénitale à la douleur encore appelée analgésie congénitale ou algo-ataraxie, découverte chez un garçon de 27 mois. Observation : Le patient était né à terme, complètement vacciné avec un développement psychomoteur correct, en phase sensori-motrice et prospective. La mère avait rapporté une absence de pleurs ou de changement de comportement lors des vaccinations. Elle avait aussi rapporté des morsures répétées de la langue et des faces muqueuses des lèvres. Il n'y avait pas d'antécédents familiaux particuliers déclarés. Le diagnostic a été évoqué devant les brûlures répétées des mains associées à des lésions d'automutilation. Il y avait de multiples stigmates d'anciens traumatismes à la tête, au tronc et aux quatre membres. L'examen clinique avait objectivé une indifférence à la douleur et à la chaleur. L'électromyogramme avait mis en évidence une polyneuropathie sensitive des quatre membres.Conclusion : L'indifférence congénitale à la douleur chez un garçon issu d'un milieu défavorisé, en pleine phase sensori-motrice et prospective du développement psychomoteur, pose le problème de sa mise en danger permanente. La prise en charge pluri-disciplinaire et l'éducation parentale doivent préserver l'intégrité physique et assurer un développement psychomoteur correct


Subject(s)
Case Reports , Child, Preschool , Pain Insensitivity, Congenital/etiology , Polyneuropathies
3.
PLoS One ; 9(9): e105895, 2014.
Article in English | MEDLINE | ID: mdl-25188265

ABSTRACT

Clinical genetic studies have shown that loss of Nav1.7 function leads to the complete loss of acute pain perception. The global deletion is reported lethal in mice, however, and studies of mice with promoter-specific deletions of Nav1.7 have suggested that the role of Nav1.7 in pain transduction depends on the precise form of pain. We developed genetic and animal husbandry strategies that overcame the neonatal-lethal phenotype and enabled construction of a global Nav1.7 knockout mouse. Knockouts were anatomically normal, reached adulthood, and had phenotype wholly analogous to human congenital indifference to pain (CIP): compared to littermates, knockouts showed no defects in mechanical sensitivity or overall movement yet were completely insensitive to painful tactile, thermal, and chemical stimuli and were anosmic. Knockouts also showed no painful behaviors resulting from peripheral injection of nonselective sodium channel activators, did not develop complete Freund's adjuvant-induced thermal hyperalgesia, and were insensitive to intra-dermal histamine injection. Tetrodotoxin-sensitive sodium current recorded from cell bodies of isolated sensory neurons and the mechanically-evoked spiking of C-fibers in a skin-nerve preparation each were reduced but not eliminated in tissue from knockouts compared to littermates. Results support a role for Nav1.7 that is conserved between rodents and humans and suggest several possibly translatable biomarkers for the study of Nav1.7-targeted therapeutics. Results further suggest that Nav1.7 may retain its key role in persistent as well as acute forms of pain.


Subject(s)
NAV1.7 Voltage-Gated Sodium Channel/deficiency , Pain Insensitivity, Congenital/etiology , Animals , Disease Models, Animal , Female , Humans , Male , Mice , Mice, Inbred BALB C , Mice, Inbred C57BL , Mice, Knockout , NAV1.7 Voltage-Gated Sodium Channel/genetics , NAV1.7 Voltage-Gated Sodium Channel/physiology , Nerve Fibers, Unmyelinated/physiology , Nervous System/pathology , Nervous System/physiopathology , Olfaction Disorders/genetics , Olfaction Disorders/physiopathology , Pain Insensitivity, Congenital/genetics , Pain Insensitivity, Congenital/physiopathology , Pain Threshold/physiology , Phenotype , Sensory Receptor Cells/physiology
5.
Pan Afr Med J ; 9: 33, 2011.
Article in English | MEDLINE | ID: mdl-22355435

ABSTRACT

Congenital Insensitivity to pain with anhydrosis (CIPA) is a rare inherited disease. It is classified as hereditary sensory and autonomic neuropathy type IV. Pain insensitivity and autonomic deficits are present, but touch and pressure sensitivity are unimpaired. Mental retardation is usually present. We report a family case of a 5 years old girl and 2 years old boy with congenital insensitivity to pain, while discussing the clinical features and the anesthetic strategy of such patients. Patients with Congenital Insensitivity to Pain with anhydrosis may undergo surgery because of susceptibility to trauma due to absence of pain. The clinical features may intrinsically possess anesthetic challenges.


Subject(s)
Hereditary Sensory and Autonomic Neuropathies/genetics , Self Mutilation/etiology , Anesthesia/adverse effects , Anesthetics/administration & dosage , Anesthetics/adverse effects , Anesthetics/pharmacokinetics , Child, Preschool , Diarrhea/etiology , Female , Humans , Hypohidrosis/etiology , Male , Malignant Hyperthermia/etiology , Malignant Hyperthermia/prevention & control , Mouth Protectors , Pain Insensitivity, Congenital/etiology , Psychotherapy , Receptor, trkA/deficiency , Receptor, trkA/genetics , Siblings
9.
Proc Natl Acad Sci U S A ; 97(11): 6132-7, 2000 May 23.
Article in English | MEDLINE | ID: mdl-10801976

ABSTRACT

alpha(1) subunit of the voltage-dependent Ca(2+) channel is essential for channel function and determines the functional specificity of various channel types. alpha(1E) subunit was originally identified as a neuron-specific one, but the physiological function of the Ca(2+) channel containing this subunit (alpha(1E) Ca(2+) channel) was not clear compared with other types of Ca(2+) channels because of the limited availability of specific blockers. To clarify the physiological roles of the alpha(1E) Ca(2+) channel, we have generated alpha(1E) mutant (alpha(1E)-/-) mice by gene targeting. The lacZ gene was inserted in-frame and used as a marker for alpha(1E) subunit expression. alpha(1E)-/- mice showed reduced spontaneous locomotor activities and signs of timidness, but other general behaviors were apparently normal. As involvement of alpha(1E) in pain transmission was suggested by localization analyses with 5-bromo-4-chloro-3-indolyl beta-d-galactopyranoside staining, we conducted several pain-related behavioral tests using the mutant mice. Although alpha(1E)+/- and alpha(1E)-/- mice exhibited normal pain behaviors against acute mechanical, thermal, and chemical stimuli, they both showed reduced responses to somatic inflammatory pain. alpha(1E)+/- mice showed reduced response to visceral inflammatory pain, whereas alpha(1E)-/- mice showed apparently normal response compared with that of wild-type mice. Furthermore, alpha(1E)-/- mice that had been presensitized with a visceral noxious conditioning stimulus showed increased responses to a somatic inflammatory pain, in marked contrast with the wild-type mice in which long-lasting effects of descending antinociceptive pathway were predominant. These results suggest that the alpha(1E) Ca(2 +) channel controls pain behaviors by both spinal and supraspinal mechanisms.


Subject(s)
Calcium Channels, R-Type/physiology , Calcium/physiology , Pain Insensitivity, Congenital/etiology , Pain/physiopathology , Acetic Acid/toxicity , Animals , Anxiety/genetics , Calcium Channels, R-Type/deficiency , Calcium Channels, R-Type/genetics , Exploratory Behavior , Fear , Formaldehyde/toxicity , Gene Expression , Inflammation/chemically induced , Inflammation/physiopathology , Ion Transport , Mice , Mice, Inbred C57BL , Mice, Knockout , Nociceptors/physiopathology , Pain Insensitivity, Congenital/genetics , Pain Insensitivity, Congenital/physiopathology , Pain Measurement , Peritonitis/chemically induced , Peritonitis/physiopathology , Recombinant Fusion Proteins/physiology , Reflex, Startle/genetics , Reverse Transcriptase Polymerase Chain Reaction
10.
Pediatr Neurol ; 19(3): 227-9, 1998 Sep.
Article in English | MEDLINE | ID: mdl-9806143

ABSTRACT

Hereditary sensory neuropathy type IV is an autosomal-recessive disorder characterized by congenital insensitivity to pain and anhidrosis and resulting in recurrent hyperpyrexia, self-mutilation, recurrent infections, chronic osteomyelitis, bone and joint deformities, and limb amputations. Described is a child with signs as well as skin and nerve biopsy results compatible with this disease, emphasizing the importance of early diagnosis and appropriate medical and educational care to prevent complications.


Subject(s)
Hereditary Sensory and Autonomic Neuropathies/diagnosis , Hypohidrosis/etiology , Osteomyelitis/etiology , Pain Insensitivity, Congenital/etiology , Biopsy , Child, Preschool , Consanguinity , Female , Hereditary Sensory and Autonomic Neuropathies/complications , Hereditary Sensory and Autonomic Neuropathies/genetics , Humans , Intellectual Disability/etiology , Mental Disorders/etiology , Neurologic Examination , Sural Nerve/pathology , Sweat Glands/pathology
11.
Article in English | MEDLINE | ID: mdl-9798226

ABSTRACT

OBJECTIVE: Hereditary sensory and autonomic neuropathy type IV (congenital insensitivity to pain with anhidrosis) is a rare disorder. In this study, we investigated the oral and dental manifestations associated with hereditary sensory and autonomic neuropathy type IV. STUDY DESIGN: Eighteen patients with hereditary sensory and autonomic neuropathy type IV whose ages ranged from 1 year 0 months to 22 years 3 months were examined for oral signs and symptoms of tooth abnormalities, malocclusions, soft tissue disorders, tongue papilla atrophy, and morphologic abnormalities of hands and fingers. RESULTS: All 18 patients showed congenital insensitivity to pain and anhidrosis. Oral self-mutilations, such as autoextraction of teeth and severe biting injuries (with resultant scarring) of the finger tips and oral soft tissues (tongue, lip, and buccal mucosa), were found in most patients. In infant patients the condition was typically characterized by decubital ulcers on the ventral surface of the tongue, resulting from trauma of the incisal edge of erupting mandibular primary incisors during sucking or nursing. These ulcers led to several local and systemic problems, such as tongue bleeding, infection, malnutrition, and halitosis. A large number of missing teeth and a high incidence of dental caries were additional characteristic findings. Such oral self-mutilations were found to decrease with age and with the intellectual, social, and/or emotional development of the patients. However, not all of the mutilations were completely eliminated. Two patients had partial dentures to replace missing teeth. CONCLUSIONS: Our study suggests that early diagnosis and specific dental management for patients with hereditary sensory and autonomic neuropathy type IV are important for prevention of the characteristic oral and dental problems accompanying this disorder.


Subject(s)
Hereditary Sensory and Autonomic Neuropathies/complications , Mouth Diseases/etiology , Tooth Diseases/etiology , Adolescent , Adult , Child , Child, Preschool , Female , Fingersucking/adverse effects , Humans , Hypohidrosis/complications , Hypohidrosis/congenital , Hypohidrosis/etiology , Infant , Male , Pain Insensitivity, Congenital/complications , Pain Insensitivity, Congenital/etiology , Self Mutilation/etiology , Surveys and Questionnaires
12.
Br J Oral Maxillofac Surg ; 34(5): 446-9, 1996 Oct.
Article in English | MEDLINE | ID: mdl-8909740

ABSTRACT

Hereditary sensory neuropathies are a rare group of neurological disorders manifested from early childhood by diminished or absent sensibility to pain, touch and temperature. A Kashmiri family with four members affected by congenital sensory neuropathy and its oral manifestations is described. Pain and temperature sensation was lost in various parts of the body including the orofacial region resulting in mutilating acropathy, particularly of the limbs and face. Orofacial motor function was normal. Three of the four members had corneal opacification due to scarring from keratitis. To prevent any further mutilation, any corrective surgery is best delayed until the patient is old enough. A discussion of the oral manifestations of this condition with a review of the literature is presented.


Subject(s)
Hereditary Sensory and Autonomic Neuropathies/complications , Mouth Diseases/etiology , Self Mutilation/etiology , Adult , Child , Consanguinity , Female , Humans , Infant , Male , Nerve Degeneration , Oral Ulcer/etiology , Pain Insensitivity, Congenital/etiology , Pedigree , Thermosensing , Tooth Exfoliation/etiology
14.
J Pediatr Ophthalmol Strabismus ; 27(3): 143-7, 1990.
Article in English | MEDLINE | ID: mdl-1694893

ABSTRACT

Congenital corneal anesthesia (CCA) is a rare clinical entity that presents a whole gamut of problems before lending itself to a diagnosis by the clinician. Not recognizing the history of self-inflicted corneal injuries, not evaluating the corneal sensations in a child with recurrent corneal ulceration, misdiagnosis of such cases as viral keratitis, and not ruling out all the secondary causes of corneal anesthesia, as well as the other causes of self-inflicted injuries, are some of the pitfalls in the diagnosis of congenital corneal anesthesia. Four cases representative of different aspects of CCA are presented. The problems in the diagnosis of these cases are discussed. A clinical classification of congenital corneal anesthesia is suggested and the systemic anomalies associated with this disorder are enumerated.


Subject(s)
Corneal Diseases/etiology , Pain Insensitivity, Congenital/diagnosis , Abnormalities, Multiple , Child, Preschool , Corneal Diseases/diagnosis , Corneal Injuries , Corneal Ulcer/etiology , Diagnosis, Differential , Female , Humans , Infant , Male , Pain Insensitivity, Congenital/etiology , Self Mutilation/complications
15.
Article in Russian | MEDLINE | ID: mdl-2471379

ABSTRACT

Inborn analgesia (IA) is described in 3 members of a family: a 14 month-old girl, hel father and grandfather on the paternal line. Generalized indifference to pain and visceral analgesia with other senses intact was noted in all patients since birth. Profound reflexes, intellectual development, karyotype, motor and sensory nervous excitation propagation velocities, somatosensory evoked potentials were all normal. Notedly, the IA inheritance was found to be autosome-dominant in this family.


Subject(s)
Chromosome Aberrations/genetics , Genes, Dominant , Pain Insensitivity, Congenital/genetics , Adult , Chromosome Aberrations/etiology , Chromosome Disorders , Female , Humans , Infant , Male , Pain Insensitivity, Congenital/etiology
16.
Arch Fr Pediatr ; 44(6): 445-7, 1987.
Article in French | MEDLINE | ID: mdl-2441680

ABSTRACT

The authors report a new case of indifference to pain secondary to hereditary sensory neuropathy in a 3 year 9 month-old boy. This child presented with isolated diffuse deficiency of pain and heat sensitiveness with preserved touch without any other neurologic involvement or anhidrosis. Nerve biopsy showed the complete lack of amyelinic fibers. P substance, which might act as a mediator or modulator of the nociception, was absent from the cutaneous nerve endings.


Subject(s)
Hereditary Sensory and Autonomic Neuropathies/etiology , Nerve Fibers/pathology , Substance P/deficiency , Child, Preschool , Consanguinity , Hereditary Sensory and Autonomic Neuropathies/genetics , Humans , Male , Pain Insensitivity, Congenital/etiology , Pain Measurement
19.
Bol Med Hosp Infant Mex ; 37(6): 1221-7, 1980.
Article in Spanish | MEDLINE | ID: mdl-6162470

ABSTRACT

A case showing multiple lesions that make it very illustrative is reported. Differential diagnosis is made with some other diseases that are similar in some isolated facts. Mention is also made on the pathophysiology of the disease as well as on the necessity of the intercourse of several medicosurgical specialties in the management of these patients. A brief review of the literature is made.


Subject(s)
Pain Insensitivity, Congenital/etiology , Child, Preschool , Humans , Male , Radiography , Spina Bifida Occulta/complications , Spina Bifida Occulta/diagnostic imaging
20.
Muscle Nerve ; 3(3): 216-20, 1980.
Article in English | MEDLINE | ID: mdl-6154886

ABSTRACT

A nine-year-old child presented with congenital insensitivity to pain and anhidrosis. Quantitative studies and electron microscopy of the cutaneous branch of the radial nerve revealed almost complete absence of small myelinated and unmyelinated fibers and a disproportionate number of nerve fibers with a diameter of 6-10 micrometers. A grouping of both type 1 and type 2 muscle fibers was also seen. We suggest that this disease entity is not caused by a hereditary sensory neuropathy, but rather that it derives from a developmental defect.


Subject(s)
Hypohidrosis/pathology , Pain Insensitivity, Congenital/pathology , Child , Humans , Hypohidrosis/complications , Hypohidrosis/physiopathology , Male , Muscles/pathology , Neural Conduction , Pain Insensitivity, Congenital/complications , Pain Insensitivity, Congenital/etiology , Pain Insensitivity, Congenital/physiopathology , Radial Nerve/pathology , Skin/pathology , Sural Nerve/pathology
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