1/64. radius hypoplasia, radial palsy, and aplasia cutis due to amniotic band syndrome.amniotic band syndrome is one of the many causes of aplasia cutis congenita. It is usually seen as a constriction band surrounding a limb or as a membrane that adheres to some part of the body. This syndrome can be associated with various malformations. An infant with amniotic adhesions producing aplasia cutis, radial palsy, and hypoplasia of the radius is presented. Early treatment led to total functional recovery of the affected limb.- - - - - - - - - - ranking = 1keywords = congenita (Clic here for more details about this article) |
2/64. temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis.The authors report a Japanese family with dominantly inherited heat-induced myotonia and cold-induced paralysis with hypokalemia. This phenotype is associated with a novel mutation in the voltage-dependent skeletal muscle sodium channel alpha subunit (SCN4A). This Pro1158Ser mutation is localized between the fourth and fifth transmembrane segments of domain III in SCN4A and may give rise to a new function; that is, thermosensitive permeability changes of the sodium channel.- - - - - - - - - - ranking = 139.71817319471keywords = myotonia (Clic here for more details about this article) |
3/64. Hypertrophic perineurial dysplasia in multifocal and generalized peripheral neuropathies.Two cases are described, one with a multifocal cranial and limb neuropathy of adult onset associated with optic neuropathy, and the other with a diffuse demyelinating neuropathy characterized by congenital cataract, mental retardation and progressive lower limb paresis with an onset in childhood. Extensive investigation in both failed to establish the causation. No family history of similar disorder was obtained in either case. Nerve biopsy in both showed similar perineurial abnormalities, the endoneurium being compartmentalized by hypertrophic perineurial cells that exhibited dysplastic features. The appearances resemble those described in a previously reported case of multifocal neuropathy and probably represent an unusual but non-specific response to a peripheral neuropathy.- - - - - - - - - - ranking = 1keywords = congenita (Clic here for more details about this article) |
4/64. Congenital paralytic vertical talus. An anatomical study.Dissections of the feet of a three-month-old infant with paralytic congenital vertical talus secondary to lumbar myelomeningocele were compared with a dissection of a normal foot. The major differences appeared to be absence of the plantar intrinsic muscles and dorsal dislocation of the talonavicular joint. It is postulated that the pathological process begins as a failure of the intrinsic muscles to oppose the unbalanced, active dorsiflexion forces of the anterior crural muscles. This imbalance then allows disruption of the talonavicular joint, mechanically the least stable joint in the mid-part of the foot. All dorsiflexion forces acting on the ankle then become ineffective and plantar flexion forces serve only to pull the calcaneus and talus into equinus, causing a "vertical" talus. Treatment must be directed at reducing the talonavicular dislocation, correcting the equinus deformity of the hind part of the foot, and substituting for the undeveloped plantar intrinsic muscles.- - - - - - - - - - ranking = 1keywords = congenita (Clic here for more details about this article) |
5/64. myelitis and ascending flaccid paralysis due to congenital toxoplasmosis.A 4-week-old female newborn developed ascending flaccid paralysis and radiologic evidence of myelitis; the diagnosis of congenital toxoplasmosis was confirmed by the presence of toxoplasma gondii-specific immunoglobulins in both mother and infant, and detection of toxoplasma sequences in the infant's cerebrospinal fluid by polymerase chain reaction analysis. Treatment with pyrimethamine, sulfadiazine, and methylprednisolone resulted in improvement.- - - - - - - - - - ranking = 5keywords = congenita (Clic here for more details about this article) |
6/64. sciatic nerve palsy after total hip arthroplasty in a patient receiving continuous lumbar plexus block.We report a case of late-onset postoperative sciatic palsy after total hip arthroplasty in a 30-yr-old man with congenital hip dysplasia. The patient was receiving continuous lumbar plexus blockade and had received low-molecular-weight heparin 3 h before the onset of symptoms. Anatomic distinction between the nerve block and the sciatic palsy facilitated rapid diagnosis and treatment of a periarticular hematoma, with resulting neurologic recovery. This case illustrates that, with the expanded role of regional anesthetic techniques in acute pain management, the finding of a new postoperative deficit must be jointly investigated by both anesthesiologists and surgeons. Timely and open communication between services is critical because rapid intervention may be essential to achieving full recovery of an affected nerve. IMPLICATIONS: A case is presented of sciatic palsy developing after total hip arthroplasty in a patient receiving a continuous lumbar plexus block. The case highlights various issues in the use of continuous peripheral nerve blocks for postoperative analgesia.- - - - - - - - - - ranking = 1keywords = congenita (Clic here for more details about this article) |
7/64. radial nerve palsy owing to localized hypertrophic neuropathy (intraneural perineurioma) in early childhood.Localized hypertrophic neuropathy, also termed intraneural perineurioma, is a rare disorder of unknown etiology that produces a slowly progressive painless focal lesion of a peripheral nerve. It is characterized histologically by concentric whorls ("onion bulbs") of epithelial membrane antigen-reactive, S-100 protein-negative perineurial cells surrounding nerve fibers. We report a radial nerve palsy in a child aged 2 years in whom the diagnosis of localized hypertrophic neuropathy was made by biopsy. Resection of the affected nerve segment and sural nerve grafting produced no useful recovery after 3 years, probably because of the long duration of denervation. When this mononeuropathy presents in early childhood, uncertainty over the time of onset can lead to difficulty in distinguishing this potentially treatable lesion from congenital and other causes of nerve palsy.- - - - - - - - - - ranking = 1keywords = congenita (Clic here for more details about this article) |
8/64. Intrauterine shoulder weakness and obstetric brachial plexus palsy.Obstetrical brachial plexus injury occurs when the forces preventing the stretch of the brachial plexus are overcome by the forces stretching it. This report describes an 8-day-old male delivered by uncomplicated cesarean section with right obstetrical brachial plexus palsy and congenital arm atrophy. The patient had a history of decreased right arm movement detected by fetal ultrasound at 18 to 20 weeks of gestation. The purpose of this article is to report that stretching of brachial plexus at birth sufficient to produce a plexus injury may occur in a patient with a vulnerable plexus even in the absence of traction during delivery.- - - - - - - - - - ranking = 1keywords = congenita (Clic here for more details about this article) |
9/64. Congenital fibrosis of extraocular muscles type 1 with progression of ophthalmoplegia.BACKGROUND: Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is a congenital, non-progressive autosomal-dominant disorder with bilateral oculomotor nerve palsy due to mutations in the kinesin motor protein gene KIF21A. - RESULTS: We present a 60-year old patient with CFEOM1 due to the common C2860T mutation in KIF21A. At the age of 37, he complained about newly occurred diplopia, which implies the capability of binocular vision before. The divergence of both globes progressed and the poor residual movement on attempted adduction and upgaze completely disappeared during the sixths decade. Clinical and electromyographic examination showed isolated involvement of the oculomotor nerve. - CONCLUSION: Apparently, progression of impaired ocular motility is not contradictory to the diagnosis of this congenital developmental disorder. Mechanical, contracture-like mechanisms as known from other types of strabism or persistent overuse of the reduced number of oculomotor a-motoneurons are generally considered as a reason for clinical progression. However, regarding the underlying known molecular basis of CFEOM1, a continuous disease progression due to the kinesin dysfunction cannot be excluded.- - - - - - - - - - ranking = 2keywords = congenita (Clic here for more details about this article) |
10/64. A new case of autosomal dominant myotonia associated with the V1589M missense mutation in the muscle sodium channel gene and its phenotypic classification.We report a phenotype associated with the Val1589Met substitution in SCN4A gene in a French family which would be better classified as paramyotonia congenita. The proband was a 48-year-old woman, who described muscle stiffness and occasional flaccid weakness, both symptoms being induced by exercise, cold and heat. Severe muscle stiffness affected facial, oropharyngeal and limb muscles leading to transient paralysis of these muscles. One sister, two nephews and the son of the proband had similar symptoms. Molecular analysis of the muscle sodium channel gene (SCN4A) by nucleotide sequencing revealed a G-to-A transition of cDNA nucleotide at position 4765 predicting a substitution of methionine for valine at position 1589. This shows that the Val1589Met mutation in the SCN4 gene may cause different phenotypes, either potassium-aggravated myotonia or paramyotonia congenita. Familial or individual factors other than the missense mutation per se influence the expression of the disease in sodium channel disorders.- - - - - - - - - - ranking = 4195.4458266087keywords = paramyotonia congenita, paramyotonia, myotonia, congenita (Clic here for more details about this article) |
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