1/30. Unsuccessful surgical treatment of hip dislocation in congenital sensory neuropathy with anhidrosis. A case report.A six-year-old girl with congenital sensory neuropathy with anhidrosis (CSNA) presented with bilateral hip dysplasia and subluxation on the right side. Conservative treatment of the hips by closed reduction and a plaster cast was unsuccessful. When aged seven years the patient had an intertrochanteric varus rotation osteotomy on the right side, but subluxation was again evident after five months. A Salter-type pelvic osteotomy was carried out followed by immobilisation, but one year later subluxation was present in the right hip and dislocation in the left. At the age of nine years, the right femoral head resembled a Charcot joint, although walking ability was preserved. In patients with CSNA, surgery may not always be advisable.- - - - - - - - - - ranking = 1keywords = neuropathy (Clic here for more details about this article) |
2/30. Multisystem involvement in congenital insensitivity to pain with anhidrosis (CIPA), a nerve growth factor receptor(Trk A)-related disorder.Congenital insensitivity to pain with anhidrosis (CIPA), a rare autosomal recessive disorder, is characterized by insensitivity to pain, self-mutilating behaviour, anhidrosis and recurrent hyperpyrexia. It is a hereditary sensory and autonomic neuropathy, also classified as HSAN, due to a defect of the receptor for nerve growth factor. CIPA is the first human genetic disorder caused by a defect in the neurotrophin signal transduction system. This is the first clinical report of CIPA patients characterized on molecular grounds. The clinical phenotypes of our patients show that CIPA is characterized by a multisystem involvement besides the nervous system, including bone fracture with slow healing, immunologic abnormalities, such as low response to specific stimuli, chronic inflammatory state ending in systemic amyloidosis. The molecular characterization allows a better understanding of most of the clinical features.- - - - - - - - - - ranking = 13.316965211299keywords = autonomic neuropathy, neuropathy (Clic here for more details about this article) |
3/30. Congenital insensitivity to pain with anhidrosis. Report of a case and review of the literature.In a previous paper published in this journal, we reported two cases of "Congenital Sensory Neuropathy with Anhidrosis" with reference to the orthopedic complications (Theodorou et al., 1985). We now present a new typical case, under the currently used term: "Congenital Insensitivity to pain with Anhidrosis" (CIPA) and a brief review of the literature on the incidence, etiology and problems arising in various systems. CIPA is an autosomal recessive form of sensory neuropathy manifesting with typical clinical features. Universal insensitivity to pain, anhidrosis or hypohidrosis, bouts of hyperpyrexia from very young age, self inflicted injuries, defective or absent lacrimation and mental retardation are specific diagnostic findings. Orthopedic, maxillofacial, dermatological and ophthalmologic complications are common. counseling of the family and school personnel for the prevention of injuries is necessary. early diagnosis is very important for the prevention and treatment of various complications. The etiology and pathogenesis of the condition is still unclear. The recent detection of a new gene, which encodes a receptor tyrosine kinase for nerve growth factor and lately of a specific point mutation associated with the gene inactivation11, may open new ways for the study and management of this disabling condition.- - - - - - - - - - ranking = 0.2keywords = neuropathy (Clic here for more details about this article) |
4/30. A case of hereditary sensory and autonomic neuropathy (HSAN) type II.We describe a case of hereditary sensory and autonomic neuropathy (HSAN) type II in a child with a penetrating foot ulcer, acral sensory impairment, and anhidrosis. This is the first documentation of HSAN in sri lanka.- - - - - - - - - - ranking = 66.584826056495keywords = autonomic neuropathy, neuropathy (Clic here for more details about this article) |
5/30. Ross syndrome plus: beyond horner, Holmes-Adie, and harlequin.BACKGROUND: Ross syndrome is an uncommon disorder characterized by the triad of segmental anhidrosis, hyporeflexia, and tonic pupils. methods: The authors describe the clinical findings of five patients with Ross syndrome and detail the results of their pharmacologic and autonomic testing. RESULTS: In four patients, the classic findings of Ross syndrome were accompanied by Horner's syndrome. Other symptoms of dysautonomia were also common. CONCLUSIONS: These findings suggest that Ross syndrome is a dysautonomic condition of varying expression resulting from a generalized injury to ganglion cells or their projections.- - - - - - - - - - ranking = 1.1287496592932keywords = dysautonomia (Clic here for more details about this article) |
6/30. adult-onset hereditary sensory and autonomic neuropathy accompanied by anosmia but without skin ulceration.We report a novel type of hereditary sensory and autonomic neuropathy (HSAN) with adult onset in a Japanese family. One male and 2 females of 6 siblings were affected. They developed anosmia initially at the ages of 20-50 years, followed by anhidrosis and sensory loss. skin ulceration was absent. Both superficial and deep sensation were impaired in the most distal parts of all 4 limbs. Orthostatic hypotension was present in all patients. This is a unique subtype of HSAN distinct from the HSAN I-V described by Dyck.- - - - - - - - - - ranking = 66.584826056495keywords = autonomic neuropathy, neuropathy (Clic here for more details about this article) |
7/30. Acquired idiopathic generalized anhidrosis: a rare cause of heat intolerance.A reduced level or complete cessation of sweating can be caused by a variety of factors affecting sweat glands directly or indirectly through alterations in their nerve supply. The most common presentation is the syndrome of heat intolerance with or without features of dysautonomia. An acquired idiopathic form of generalized anhidrosis is characterized by loss of sweating in the absence of any neurological features or destruction of sweat glands. Cholinergic urticaria has been associated with some cases of this acquired idiopathic form of generalized anhidrosis. A case of generalized absence of sweating without a neurological deficit is described, and the implications of heat intolerance are discussed.- - - - - - - - - - ranking = 1.1287496592932keywords = dysautonomia (Clic here for more details about this article) |
8/30. The spectrum of autoimmune autonomic neuropathies.We analyzed the clinical characteristics of 18 patients (13 female, 5 male) who had autoimmune autonomic neuropathy (AAN) and ganglionic acetylcholine receptor (AChR) autoantibodies. Mean age was 61.4 years (standard deviation, 12.0 years). Ten patients had subacute symptom onset, six with an antecedent event. Eight patients had chronic AAN, characterized by insidious symptom onset, without antecedent event, and gradual progression. A majority of patients with high antibody values (>1.00 nmol/L) had a combination of sicca complex (marked dry eyes and dry mouth), abnormal pupillary light response, upper gastrointestinal symptoms, and neurogenic bladder. Chronic AAN segregated into two subgroups. One subgroup (N = 4) had low antibody titer (0.09 /- 0.01 nmol/L) and a paucity of cholinergic symptoms. It was indistinguishable from pure autonomic failure. The other subgroup (N = 4) had high antibody titer (11.6 /- 2.08 nmol/L), sicca complex, abnormal pupils, and neurogenic bladder; three had severe upper gastrointestinal dysfunction. Higher antibody titers correlated with greater autonomic dysfunction and more frequent cholinergic dysautonomia. These observations expand the clinical spectrum of AAN to include chronic cases, some being indistinguishable from pure autonomic failure, and support the concept that ganglionic AChR antibodies are important diagnostically and pathophysiologically in acquired dysautonomia.- - - - - - - - - - ranking = 15.574464529885keywords = autonomic neuropathy, dysautonomia, neuropathy (Clic here for more details about this article) |
9/30. 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 = 350.11628030085keywords = neuropathy type, neuropathy (Clic here for more details about this article) |
10/30. Idiopathic pure sudomotor failure: anhidrosis due to deficits in cholinergic transmission.BACKGROUND: Acquired idiopathic generalized anhidrosis (AIGA) represents a heterogeneous clinical syndrome including sudomotor neuropathy and failure of the sweat glands. However, most AIGA cases comprise idiopathic pure sudomotor failure (IPSF), a distinct subgroup without sudomotor neuropathy or sweat gland failure. methods: Eight patients with IPSF (mean /- SD age 20 /- 5 years) were assessed by thermoregulatory and pilocarpine-induced sweating tests, as well as emotional sweating using sudorometer (4 cases), microneurography of skin sympathetic nerve activity (2 cases), and skin biopsies from the forearm or axilla (3 cases). RESULTS: Clinical features of IPSF comprise early onset; acute or sudden onset; concomitant sharp pain or cholinergic urticaria over the entire body; lack of autonomic dysfunction other than generalized anhidrosis; elevated serum IgE levels; and marked response to steroid. Sudomotor function testing revealed complete absence of thermoregulatory sweating, but well-preserved emotional sweating; pilocarpine did not induce sweating, and microneurography revealed that bursts of skin sympathetic nerve activity were not decreased; and skin biopsy displayed no morphologic abnormalities in sweat glands. The first two findings suggest lesions on the postsynaptic side of the nerve-sweat gland junction. CONCLUSION: The lesions in IPSF may be in the muscarinic cholinergic receptors of sweat glands. Allergic mechanisms are probably involved in its pathophysiology.- - - - - - - - - - ranking = 0.4keywords = neuropathy (Clic here for more details about this article) |
| | Next -> |