1/7. Neurologic nonmetabolic presentation of propionic acidemia.BACKGROUND: patients with propionic acidemia usually present in the neonatal period with life-threatening ketoacidosis, often complicated by hyperammonemia. It was thought that the neurologic abnormalities seen in this disease were exclusively the consequences of these acute crises. Experience with 2 patients with propionic acidemia indicates that this disease may present first with prominent neurologic disease without the life-threatening episodes of ketoacidosis that usually serve as the alerting signals for a diagnosis of an organic acidemia. OBJECTIVE: To examine the clinical and metabolic aspects of 2 patients with a phenotype that suggested disease of the basal ganglia. DESIGN: Examination of patterns of organic acids of the urine and enzyme assay for propionyl-CoA carboxylase in fibroblasts and lymphocytes. SETTING: Referral population to a biochemical genetics laboratory. patients: Two patients whose prominent features were hypotonia followed by spastic quadriparesis and choreoathetosis. Both had seizures. One patient was mildly mentally retarded but grew normally physically. The other had profound mental retardation and failure to thrive; he also self-mutilated his lower lip. self-injurious behavior has not been reported in this disease. MAIN OUTCOME MEASURES: Clinical description, blood ammonia levels, organic acid levels in the urine, and enzyme activity. RESULTS: Excretion of metabolites, including methylcitrate, was typical. Residual activity of propionyl-CoA carboxylase approximated 5% of the control in each patient. CONCLUSIONS: propionic acidemia can present as a pure neurologic disease without acute episodes of massive ketoacidosis. hyperammonemia may occur after infancy in some patients, presenting as reye syndrome.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/7. A case of encephalomyelopolyneuropathy in vitamin B12 deficiency.A case of a 44-years-old patient with unusual clinical presentation of encephalomyelopolyneuropathy in vitamin B12 deficiency is presented. The disease manifested itself with gastrointestinal bleeding, which necessitated emergency hospitalisation in surgical clinic. Clinical examinations revealed atrophic gastritis, pernicious anemia, neurological and mental complications. The diagnosis was made according to the following criteria: physical examination--smooth tongue, atrophic gastritis, mild hepatosplenomegaly; laboratory findings--pernicious anemia, low vitamin B12 serum levels; neurological examination--syndrome of combined damage of the posterior and lateral columns of the spinal cord; magnetic resonance imaging--typical hyperintense areas on T2-weighted images in the posterior columns in the cervical regions of the spinal cord; transcranial magnetic stimulation--prolonged central motor conduction time of the motor evoked potentials bilaterally; psychological examination--cognitive decline. After treatment with vitamin B12 an improvement of the hematological findings, neurological deficit and cognitive impairments was found. CONCLUSION: Neurological complications could be an early manifestation of vitamin B12 deficiency. In diagnostic aspect similar complaints require examination of the serum levels of vitamin B12. The delay in diagnosis and inadequate therapy bear the risk of incomplete recovery of the neurological deficit. The current problem of "cognitive decline" necessitates routine examination of the serum levels of vitamin Bl2 in all patients with initial cognitive impairments and their prompt and approapriate treatment.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/7. Chronic hiccups.patients with chronic hiccups should be carefully examined for an underlying disorder while receiving symptomatic treatment. Treatment includes physical maneuvers, drugs such as chlorpromazine, metoclopramide, anticonvulsants or quinidine, and other, less tested modalities such as hypnosis. Only those patients with disabling hiccups that do not respond to conservative treatment should be considered for phrenic nerve surgery.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/7. Intractable vertigo--when not to operate.patients with episodic vertigo--or one severe episode of vertigo--may respond to vestibulosuppressive medications or operations on the labyrinth. In patients with constant incapacitating vertigo or disequilibrium, the clinician should suspect nonlabyrinthine disease. A careful history and physical and neurologic examinations will provide clues to underlying disease and direct the selection of further objective tests.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/7. Heterotopic ossification mimicking acute arthritis after neurologic catastrophes.Three patients developed periarticular heterotopic new bone formation during the first two months after a CNS disorder. In each patient warmth, swelling, and tenderness around one or two joints initially resembled severe arthritis. diagnosis was aided by roentgenograms of the involved areas that showed the ossification. While no treatment has been clearly demonstrated to interrupt the ossification and resultant contracture, a course of cautious physical therapy and antiinflammatory medication is probably indicated.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/7. Centronuclear myopathy: possible central nervous system origin.The authors describe a case of myopathy characterized physically by limb weakness, eyelid ptosis, voluntary and reflex paralysis of vertical movements of gaze, and loss of deep tendon reflexes; and morphologically by the abnormal presence of centrally located nuclei in muscle fibers and type 1 fiber hypotrophy. The establishment in this case study of two particular findings--the probably nuclear or supranuclear ophthalmoplegia and the apparently impaired nuclear migration from the center of the muscle fiber toward its periphery--supports the hypothesis of a neuromuscular disorder whose level of severity depends on the degree of difficulty in the nuclear migration itself. This would be linked to a reduction in central nervous system influence.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/7. Enterococcal meningitis: report of four cases and review.Enterococci, a significant cause of human infections outside of the CNS, have only rarely been documented to cause meningitis. To add to our understanding of this uncommon infectious process, we report our experience with four patients with enterococcal meningitis and summarize findings associated with 28 additional cases found in the medical literature. The majority of the adult patients with this condition had coexistent chronic underlying illnesses and were frequently exposed to immunosuppressive therapy. In addition, more than one-third of these patients had experienced CNS trauma or surgery, and 31% had an infection with enterococci at a site other than the CNS. Pediatric patients predominantly had underlying CNS pathology primarily consisting of neural tube defects or hydrocephalus. Primary meningitis occurred in 25% of pediatric patients, with most of these episodes occurring in neonates. Most patients presented with expected signs, symptoms, and physical features of acute bacterial meningitis and had typical CSF abnormalities, including leukocytic pleocytosis, elevated protein levels, and hypoglycorrhachia. The overall mortality rate among patients with enterococcal meningitis was 13%. The small number of patients in this review failed to demonstrate a definite difference in mortality among patients treated with cell wall-active agents alone vs. those treated with combination therapy with an aminoglycoside, although studies of patients with other complicated enterococcal infections suggest that combination therapy would be preferable.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |