1/10. A report of congenital indifference to pain as diagnosed in infancy.As physicians and nurses, we have a fundamental obligation to consider patient welfare above all else. The case presented demonstrates the depth of this obligation. Our patient, who was diagnosed during infancy with congenital indifference to pain, can neither feel nor perceive the meaning of pain. Congenital indifference to pain is a rare disorder, which is characterized by normal intelligence, development, and sensation despite an absence of pain perception. There is no cure and treatment difficulties are plentiful. Educating and maintaining an open, consistent relationship with the family and caregivers is essential to reduce the morbidity of this condition.- - - - - - - - - - ranking = 1keywords = perception (Clic here for more details about this article) |
2/10. Congenital insensitivity to pain in four related Saudi families.Congenital insensitivity to pain (hereditary sensory and autonomic neuropathy [HSAN] type V) is a rare disorder of pain perception in which pain sensation is absent from birth, with no other neurologic deficits. We report five Saudi patients (three male and two female) age 10 months to 23 years who lacked pain sensation from birth but have normal appreciation of other sensory modalities. They are from four related families who are descended from one grandfather. The patients had sustained many painless injuries resulting in fractures and disfigurement, but otherwise are completely normal.- - - - - - - - - - ranking = 1keywords = perception (Clic here for more details about this article) |
3/10. A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception.Identification of genes associated with pain insensitivity syndromes can increase the understanding of the pathways involved in pain and contribute to the understanding of how sensory pathways relate to other neurological functions. In this report we describe the mapping and identification of the gene responsible for loss of deep pain perception in a large family from northern sweden. The loss of pain perception in this family is characterized by impairment in the sensing of deep pain and temperature but with normal mental abilities and with most other neurological responses intact. A severe reduction of unmyelinated nerve fibers and a moderate loss of thin myelinated nerve fibers are observed in the patients. Thus the cases in this study fall into the class of patients with loss of pain perception with underlying peripheral neuropathy. Clinically they best fit into HSAN V. Using a model of recessive inheritance we identified an 8.3 Mb region on chromosome 1p11.2-p13.2 shared by the affected individuals in the family. Analysis of functional candidate genes in the disease critical region revealed a mutation in the coding region of the nerve growth-factor beta (NGFB) gene specific for the disease haplotype. This NGF mutation seems to separate the effects of NGF involved in development of central nervous system functions such as mental abilities, from those involved in peripheral pain pathways. This mutation could therefore potentially provide an important tool to study different roles of NGF, and of pain control.- - - - - - - - - - ranking = 7keywords = perception (Clic here for more details about this article) |
4/10. tension-type headache as the unique pain experience of a patient with congenital insensitivity to pain.Congenital insensitivity to pain (CIP) is a rare clinical syndrome characterized by dramatic impairment of pain perception since birth and is generally caused by a hereditary sensory and autonomic neuropathy (HSAN) with loss of the small-calibre, nociceptive nerve fibres. We report the case of a 32-year-old woman with CIP and a presumptive diagnosis of HSAN type V, who experienced physical pain for the first and unique time in her life shortly after the sudden loss of her brother. This patient had sustained innumerable painless injuries during childhood, including bone fractures and severe burns. The only pain she ever felt consisted in an intense headache, which took place in a context of strong emotional overload and anxiety, 3 weeks after her younger brother died suddenly in a car accident. The description of this inaugural episode of headache fulfilled the diagnostic criteria of episodic tension-type headache. This case strongly suggests that the transcription of the grief of bereavement into physical pain may sometimes occur independently of the peripheral mechanisms of nociception and despite the lack of previous pain experience. In the light of recent experimental data showing that the same neural mechanisms that regulate physical pain may also control the expression of separation distress and the feeling of social exclusion, this unique case helps to better understand why some patients may feel physically hurt after the loss of someone they love.- - - - - - - - - - ranking = 1keywords = perception (Clic here for more details about this article) |
5/10. Congenital insensitivity-to-pain with anhidrosis (CIPA): a case report with 4-year follow-up.Congenital Insensitivity-to-pain with anhidrosis (CIPA) is a rare disorder in which pain perception is absent from birth, despite the fact that all other sensory modalities remain intact or minimally impaired and tendon reflexes are present. The challenge in dentistry is to manage the self-mutilation behavior avoiding serious damages especially to oral structures, hands and fingers. A Brazilian case of CIPA is presented and discussed with clinical documentation of the oral-related problems over a 4-year follow-up. A conservative treatment (mouthguard-like appliance) was proposed with the objective to avoid full mouth extraction.- - - - - - - - - - ranking = 1keywords = perception (Clic here for more details about this article) |
6/10. oral manifestations of the congenital insensitivity-to-pain syndrome.The congenital insensitivity-to-pain syndrome is a sensory syndrome in which pain is impaired. It has been variably classified under a variety of terms, on occasion leading to some confusion. The condition is present at birth. The patient is usually, but not always, normal with respect to intelligence, development, and psychological adjustments. Other sensory perceptions are normal. Traumatic lesions as a result of self-mutilative acts are not uncommon, especially at an early age. The condition may not be apparent clinically until the time of initial tooth eruption. As the primary teeth erupt, the patient acquires the necessary apparatus for self-infliction of wounds to oral structures, skin, and fingernails. A case of congenital indifference to pain is presented, with clinical documentation of tooth-related problems occurring over a 2-year period and of the steps taken to correct or minimize the traumatic effects of chewing.- - - - - - - - - - ranking = 1keywords = perception (Clic here for more details about this article) |
7/10. Congenital sensory neuropathy with anhydrosis-a case report and investigation of autonomic nervous system abnormalities.A review of the clinical profile of congenital sensory neuropathy with anhydrosis is presented. It is stressed that major diagnostic criteria of this recessively inherited condition should be limited to insensitivity to pain with normal tactile perception, anhydrosis, recurrent unexplained fever, self-mutilation, mental retardation, hypotonia, histologically normal sweat glands and variable autonomic abnormality. A case conforming to this description is reported and compared with 13 published cases. Special investigations of the autonomic nervous system through measurement of urinary catecholamine metabolites and psychophysiologic variables were conducted on this patient. Based on the analysis of 5 X 24-hour urine, values of metabolites of dopamine and epinephrine were normal. Metabolites of norepinephrine, such as 3-methoxy-4-hydroxy phenylglycol and normetanephrine, however, were significantly low when compared with those of four controls, suggesting decreased peripheral and central norepinephrine activity. Polygraph recording and evaluation of some orienting response components revealed no obvious signs of autonomic perturbation and, specifically, no phasic electrodermal activity. These two findings (biochemical and electrodermal) strongly suggest an autonomic imbalance, specifically component, both central and peripheral. It is suggested that autonomic disorder is an integral part of the syndrome and may be demonstrated by special investigations.- - - - - - - - - - ranking = 1keywords = perception (Clic here for more details about this article) |
8/10. The differential diagnosis of congenital analgesia and other diseases with diminished pain perception in childhood. Case report and review.This paper reports the case of a boy aged 10 months who suffers from congenital analgesia in its pure form. All clinical, biochemical, neuro=physiological and histological data considered to be significant in the differential diagnosis are presented. The findings in all diseases in which impairment of pain sensation occurs are tabulated. 38 patients meet the diagnostic criteria for pure congenital analgesia. The diagnostic criteria are generalized indifference to pain dating from birth; no impairment of other sensory modalities; normal intelligence; normal deep tendon reflexes; no visceral pain perception; normal skin biopsy; no diminution of myelinated or un-myelinated nerve fibres in sural nerve biopsy; normal motor and sensory nerve conduction velocities and normal karyotype. The mode of inheritance remains unclear, but it is assumed, that congenital analgesia might be an autosomal-recessively inherited disease.- - - - - - - - - - ranking = 5keywords = perception (Clic here for more details about this article) |
9/10. Congenital indifference to pain: long-term follow-up of two cases.We are reporting the cases of two brothers with congenital indifference to pain, previously reported by one of us in 1965. This represents a nearly 30-year follow-up. In this rare disorder of pain perception, all other sensory modes are intact. Management includes early recognition of the condition, prevention of injury, immobilization of injured extremities, and surgical correction of established deformities.- - - - - - - - - - ranking = 1keywords = perception (Clic here for more details about this article) |
10/10. Congenital sensory neuropathy with selective loss of small myelinated fibers.The results of clinical, electrophysiological, autonomic, and histopathological studies in a 6-year-old patient with congenital sensory neuropathy are presented. Selective loss of pain perception affecting the extremities was noted from infancy. Nerve conduction studies were normal. Small myelinated fibers were selectively reduced in the sural nerve, and unmyelinated fibers were normal.- - - - - - - - - - ranking = 1keywords = perception (Clic here for more details about this article) |
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