Cases reported "Hypohidrosis"

Filter by keywords:



Filtering documents. Please wait...

1/59. 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 = 1
keywords = neuropathy
(Clic here for more details about this article)

2/59. A novel point mutation affecting the tyrosine kinase domain of the TRKA gene in a family with congenital insensitivity to pain with anhidrosis.

    A nerve growth factor receptor encoded by the TRKA gene plays an important part in the formation of autonomic neurons and small sensory neurons in dorsal root ganglia and in signal transduction through its intracytoplasmic tyrosine kinase domain. Recently, three mutations in the tyrosine kinase domain of TRKA have been reported in patients with congenital insensitivity to pain with anhidrosis, which is an autosomal recessive disorder characterized by recurrent fever due to absence of sweating, no reaction to noxious stimuli, self-mutilating behavior, and mental retardation. We examined the TRKA gene in five generations of a large Japanese family with many consanguineous marriages who live in a small remote island of the southern part of japan. We found a novel point mutation at nucleotide 1825 (A-->G transition) resulting in Met-581-Val in the tyrosine kinase domain. Two of the three affected patients were homozygous for this mutation; however, the third affected patient was heterozygous. Further analysis revealed that the third patient was a compound heterozygote with the Met-581-Val mutation in one allele and with a single base C deletion mutation at nucleotide 1726 in exon 14 in the other allele, resulting in a frameshift and premature termination codon.
- - - - - - - - - -
ranking = 0.011488757171874
keywords = nerve
(Clic here for more details about this article)

3/59. Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.

    Congenital insensitivity to pain with anhidrosis (CIPA) is characterized by recurrent episodes of unexplained fever, anhidrosis (inability to sweat), absence of reaction to noxious stimuli, self-mutilating behavior, and mental retardation. Human TRKA encodes a high-affinity tyrosine kinase receptor for nerve growth factor (NGF), a member of the neurotrophin family that induces neurite outgrowth and promotes survival of embryonic sensory and sympathetic neurons. We have recently demonstrated that TRKA is responsible for CIPA by identifying three mutations in a region encoding the intracellular tyrosine kinase domain of TRKA in one Ecuadorian and three Japanese families. We have developed a comprehensive strategy to screen for TRKA mutations, on the basis of the gene's structure and organization. Here we report 11 novel mutations, in seven affected families. These are six missense mutations, two frameshift mutations, one nonsense mutation, and two splice-site mutations. Mendelian inheritance of the mutations is confirmed in six families for which parent samples are available. Two mutations are linked, on the same chromosome, to Arg85Ser and to His598Tyr;Gly607Val, hence, they probably represent double and triple mutations. The mutations are distributed in an extracellular domain, involved in NGF binding, as well as the intracellular signal-transduction domain. These data suggest that TRKA defects cause CIPA in various ethnic groups.
- - - - - - - - - -
ranking = 0.05744378585937
keywords = nerve
(Clic here for more details about this article)

4/59. Cardiac sympathetic denervation in Ross syndrome demonstrated by MIBG-SPECT.

    We investigated cardiac sympathetic innervation by metaiodobenzylguanidine (MIBG) imaging in a patient with tonic pupils, loss of tendon reflexes, and segmental anhidrosis (Ross syndrome). Despite normal cardiovascular reflex tests, we observed a reduced global myocardial MIBG uptake as well as a regional uptake defect over the posterolateral cardiac territory indicating left ventricular peripheral sympathetic denervation. MIBG imaging seems to be a useful noninvasive diagnostic method for detection of early--possibly subclinical--cardiac autonomic impairment in Ross syndrome and provides further evidence of injury to postganglionic autonomic neurons as the underlying pathological mechanism of the disease.
- - - - - - - - - -
ranking = 0.067961988166263
keywords = peripheral
(Clic here for more details about this article)

5/59. Congenital insensitivity to pain with anhidrosis: a case report.

    Congenital insensitivity to pain with anhidrosis (CIPA) is a very rare genetic disorder of the peripheral nervous system characterized by recurrent episodes of unexplained fever, generalized anhidrosis, insensitivity to pain and temperature, and accompanied by self-mutilating behavior and mental retardation. We report on a 16 month-old boy with CIPA who exhibited these characteristic clinical features. A sural nerve biopsy revealed markedly reduced numbers of unmyelinated and small myelinated fibers, consistent with the characteristic features of CIPA.
- - - - - - - - - -
ranking = 2.4820287030953
keywords = peripheral nervous system, peripheral, nerve, nervous system
(Clic here for more details about this article)

6/59. 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 = 0.26491373560426
keywords = neuropathy, nerve, nervous system
(Clic here for more details about this article)

7/59. 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 = 0.21148875717187
keywords = neuropathy, nerve
(Clic here for more details about this article)

8/59. Congenital insensitivity to pain with anhydrosis. Report of two unrelated cases.

    Two unrelated female cases of congenital insensitivity to pain with anhydrosis are presented. The first case was born from consanguineous parents. In both cases, onset of manifestation was observed in infancy with automutilation and recurrent fever. Both were mentally retarded. They underwent a peripheral nerve biopsy respectively at 3 and 33 years. A dramatic loss of unmyelinated fibers was observed in both cases. Myelinated fibers were also moderately reduced in number, especially those of smallest diameter; this loss was more marked in the second patient who was adult when the peripheral nerve was studied. Clusters of regenerating myelinated fibers were seen in both cases. Such histological observations might suggest a slowly progressive disorder. The cases are discussed together with previous reports dealing with congenital insensitivity to pain.
- - - - - - - - - -
ranking = 0.56774522832551
keywords = peripheral nerve, peripheral, nerve
(Clic here for more details about this article)

9/59. 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 = 1
keywords = neuropathy
(Clic here for more details about this article)

10/59. Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis.

    uniparental disomy (UPD) is defined as the presence of a chromosome pair that derives from only one parent in a diploid individual. The human TRKA gene on chromosome 1q21-q22 encodes a receptor tyrosine kinase for nerve growth factor and is responsible for an autosomal recessive genetic disorder: congenital insensitivity to pain with anhidrosis (CIPA). We report here the second case of paternal UPD for chromosome 1 in a male patient with CIPA who developed normally at term and did not show overt dysmorphisms or malformations. He had only the usual features of CIPA with a homozygous mutation at the TRKA locus and a normal karyotype with no visible deletions or evidence of monosomy 1. Haplotype analysis of the TRKA locus and allelotype analyses of whole chromosome 1 revealed that the chromosome pair was exclusively derived from his father. Non-maternity was excluded by analyses of autosomes other than chromosome 1. Thus, we have identified a complete paternal isodisomy for chromosome 1 as the cause of reduction to homozygosity of the TRKA gene mutation, leading to CIPA. Our findings further support the idea that there are no paternally imprinted genes on chromosome 1 with a major effect on phenotype. UPD must be considered as a rare but possible cause of autosomal recessive disorders when conducting genetic testing.
- - - - - - - - - -
ranking = 0.05744378585937
keywords = nerve
(Clic here for more details about this article)
| Next ->


Leave a message about 'Hypohidrosis'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.