11/64. Necrotising fasciitis in an infant with congenital insensitivity to pain syndrome.We present a rare case of necrotising fasciitis in an infant with congenital insensitivity to pain syndrome. The aetiology, diagnosis and management of necrotising fasciitis in children are compared with those in adults. In contrast to adults, children affected by necrotising fasciitis are usually previously healthy and have no predisposing factors. early diagnosis, intravenous antibiotics and aggressive surgical debridement are mandatory for an optimal outcome.- - - - - - - - - - ranking = 1keywords = pain (Clic here for more details about this article) |
12/64. 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 = 1.6keywords = pain (Clic here for more details about this article) |
13/64. Extensive Riga-Fede disease of the lip and tongue.Riga-Fede disease presents in early infancy and is characterized by firm, verrucous plaques arising on the oral mucosal surfaces. These histologically benign lesions occur as a result of repetitive trauma of the oral mucosal surfaces by the teeth. Early recognition of this entity is important, because it may be the presenting sign of an underlying neurologic disorder. We report the case of a 10-month-old boy with extensive Riga-Fede disease involving the lip and tongue that prompted a diagnosis of congenital autonomic dysfunction with universal pain loss.- - - - - - - - - - ranking = 0.2keywords = pain (Clic here for more details about this article) |
14/64. 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 = 1.8keywords = pain (Clic here for more details about this article) |
15/64. Congenital sensory neuropathy with anhidrosis (hereditary sensory neuropathy type IV).Hereditary sensory neuropathies comprise a group of rare childhood diseases which are classified into four types. We present a Greek boy 11 years old with hereditary sensory neuropathy type IV (congenital sensory neuropathy with anhidrosis) whom we have followed up and studied during the last seven years. Our patient presented for the first time with recurrent hyperthermic episodes without sweating, and lack of pain sensation from the first months of life. Insensitivity to pain and thermal stimuli had resulted in burns on the extremities and self-mutilation of the tongue, lips and fingertips. When he was five and seven years old respectively he had two painless fractures of the ankles which led to insoluble orthopedic problems. He also suffered from mental retardation, which was obvious from his first years of life. Sweat gland investigations showed significant hypohidrosis or anhidrosis although the sweat glands were normal microscopically. Hereditary sensory neuropathy type IV, although rare, is important for dermatologists because it must be differentiated from other anhidrotic syndromes, and in view of the poor prognosis of the condition.- - - - - - - - - - ranking = 0.6keywords = pain (Clic here for more details about this article) |
16/64. An infant with primary tooth loss and palmar hyperkeratosis: a novel mutation in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis.patients with congenital insensitivity to pain and anhidrosis (CIPA), caused by mutations in the NTRK1 gene, can be difficult to diagnose because of their variable presentation, the lack of simple diagnostic tests, and the paucity of cases reported in north america. We describe a 1-year-old infant who had tooth loss and palmar hyperkeratosis as the primary manifestations of CIPA. He was initially evaluated by a pediatric dentist and epidermal dysplasia syndromes were considered, but insensitivity to pain was suspected after a skeletal survey revealed an unrecognized skull fracture. Nerve conduction studies were normal, as was his response to subdermal histamine injection. sequence analysis of his NTRK1 gene revealed 2 mutations: 1 mutation is novel, while the other has been described previously in a patient of northern European descent. An antibody directed against NTRK1 revealed persistent expression in keratinocytes, consistent with the mutations in this patient. skin biopsy specimens revealed a lack of epidermal and sweat gland innervation. immunohistochemistry of skin biopsy specimens, together with routine nerve conduction studies, can provide quick and reliable confirmation if CIPA is clinically suspected.- - - - - - - - - - ranking = 1.2keywords = pain (Clic here for more details about this article) |
17/64. 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 = 2.4keywords = pain (Clic here for more details about this article) |
18/64. Spinal manifestations in a patient with congenital insensitivity to pain.Spinal manifestations in congenital insensitivity to pain are relatively uncommon and easily misdiagnosed. We report on a patient with absent protective pain sensation, who developed spinal neuropathic arthropathy. At age 11 years, he presented with a destructive lesion at the L1-L2 level, causing him tingling sensation in both lower limbs. He was treated with combined anteroposterior spinal fusion from T12 to L3 and had full recovery. Five years later, he presented with a long history of clicking in his low back, muscle weakness and paresthesia in both lower extremities during walking, and evidence of Charcot arthropathy at the L4-L5 level, resulting in junctional kyphosis and canal narrowing. Posterior spinal arthrodesis from L3 to the sacrum was performed, due to lack of patient and parental consent for combined anterior decompression/posterior fusion. The patient resumed normal muscle function and his previous level of activities. Spinal complications should be anticipated in this condition and create diagnostic and therapeutic dilemmas. However, surgical management can produce favorable clinical results.- - - - - - - - - - ranking = 1.2keywords = pain (Clic here for more details about this article) |
19/64. 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 = 3.2keywords = pain (Clic here for more details about this article) |
20/64. Congenital insensitivity to pain--review and report of a case with dental implications.Pain is a protective mechanism for the body. Absence of pain is a symptom in several disorders, both congenital and acquired. The congenital types are present at birth and affect the number and distribution of types of nerve fibers. At present, 5 types of hereditary sensory and autonomic neuropathies have been identified. The various disorders within this group are classified according to the different patterns of sensory and autonomic dysfunction and peripheral neuropathy and the presence of additional clinical features such as learning disability. However, the field is currently moving away from classification based on clinical presentation toward classification based on underlying genetic abnormality. In the absence of pain, patients are at risk of late presentation with illnesses or injuries, and have an increased incidence of traumatic injury. Self-mutilation is an almost invariable feature of these disorders. We report the case of a patient with congenital insensitivity to pain that presented with self-mutilation injuries to his hands and oral tissues caused by biting. The severe nature of these injuries necessitated serial extraction of his primary teeth soon after eruption, which led to a cessation of the problem. The mutilation has not returned following the eruption of the first of his permanent teeth, suggesting that he has learned not to bite himself, even though to do so causes him no discomfort.- - - - - - - - - - ranking = 1.4keywords = pain (Clic here for more details about this article) |
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