1/46. An unusual case of hyperekplexia.Hyperekplexia is a rare paroxysmal disorder characterized by exaggerated startle response, hypertonia during infancy and a transient increase in tone following startle attacks. We report an unusual case of hyperekplexia in a young man. In addition to common symptoms of the condition, we found generalized spasticity persisting beyond infancy, and facial and skeletal dysmorphism. Because of an unsteady gait with frequent falls and raised serum creatine kinase levels, a congenital myopathy had been suspected in the past and an abnormal muscle biopsy had been documented. We diagnosed hyperekplexia at the age of 21 years on clinical grounds and following the response to pharmacological treatment. A mutation in the alpha1 subunit of the glycine receptor confirmed the diagnosis. A repeated needle muscle biopsy demonstrated mild myopathic changes, which we considered to be secondary to increased muscle tone. This case highlights the diagnostic difficulties of hyperekplexia, particularly in sporadic cases with unusual presentation.- - - - - - - - - - ranking = 1keywords = myopathy (Clic here for more details about this article) |
2/46. Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card.Very long chain fatty acid dehydrogenase (VLCAD) deficiency is a rare but treatable cause of cardiomyopathy, fatty liver, skeletal myopathy, pericardial effusions, ventricular arrhythmias, and sudden death. Unrecognized, VLCAD deficiency may be rapidly progressive and fatal, secondary to its cardiac involvement. Because early diagnosis improves outcome, we present a neonate with VLCAD deficiency in whom retrospective analysis of the newborn screening card revealed that a correct diagnosis could have been made by newborn screening using tandem mass spectrometry. Our patient demonstrated a classic neonatal course with transient hypoglycemia at birth, interpreted as culture-negative sepsis, followed by a quiescent period notable only for hypotonia and poor feeding. At 3 months, he presented with cardiorespiratory failure and pericardial effusions, requiring pericardiocentesis, tracheostomy, and prolonged mechanical ventilation. plasma free-fatty acid and acylcarnitine profiles demonstrated small but significant elevations of C14:2, C14:1, C16, and C18:1 acylcarnitine species, findings consistent with a biochemical diagnosis of VLCAD deficiency. Enteral feeds were changed to Portagen formula with marked improvement in cardiac symptoms over several weeks. To confirm the biochemical diagnosis, molecular analysis was performed by analysis of genomic dna on a blood sample of the patient. Sequencing analysis and delineation of VLCAD mutations were performed using polymerase chain reaction and genomic sequencing. The patient was heterozygous for 2 different disease-causing mutations at the VLCAD locus. The maternal mutation was a deletion of bp 842-3 in exon 8, causing a shift in the reading frame. The paternal mutation was G 1A in the consensus donor splice site after exon 1; this splice-site mutation would likely result in decreased mRNA. The likely consequence of these mutations is essentially a null phenotype. To determine whether this case could have been picked up by tandem mass spectrometry analysis at birth when the patient was asymptomatic, acylcarnitine analysis was performed on the patient's original newborn card (after obtaining parental consent, the original specimen was provided courtesy of Dr Kenneth Pass, Director, new york State Newborn Screening Program). The blood sample had been obtained at 1 week of age and stored at room temperature for 6 months and at 70 degrees C thereafter for 18 months. Electrospray tandem mass spectrometry used a LC-MS/MS API 2000 operated in ion evaporation mode with the TurboIonSpray ionization probe source. The acylcarnitine profile obtained from the patient's original newborn card was analyzed 2 years after it was obtained. In comparison with a normal control, there was a significant accumulation of long chain acylcarnitine species, with a prominent peak of tetradecenoylcarnitine (C14:1), the most characteristic metabolic marker of VLCAD deficiency. This profile would have likely been even more significant if it had been analyzed at the time of collection, yet 2 years later is sufficient to provide strong biochemical evidence of the underlying disorder. Discussion. VLCAD was first discovered in 1992, and clinical experience with VLCAD deficiency has been accumulating rapidly. Indeed, the patients originally diagnosed with long chain acyl-CoA deficiency suffer instead from VLCAD deficiency. The phenotype of VLCAD deficiency is heterogeneous, ranging from catastrophic metabolic and cardiac failure in infancy to mild hypoketotic, hypoglycemia, and exertional rhabdomyolysis in adults. This case demonstrates that VLCAD deficiency could have been detected from the patient's own neonatal heel-stick sample. Most likely, a presymptomatic diagnosis would have avoided at least part of a lengthy and intensive prediagnosis hospitalization that had an estimated cost of $400 000. Although VLCAD is relatively rare, timely and correct diagnosis leads to dramatic recovery, so that detection by newborn screening could prevent the onset of arrhythmias, heart failure, metabolic insufficiency, and death. Fatty acid oxidation defects, including VLCAD deficiency, may account for as many as 5% of sudden infant death patients. Recent instrumentation advances have made automated tandem mass spectrometry of routine neonatal heel-stick samples technically feasible. Pilot studies have demonstrated an incidence of fatty acid oxidation defects, including short chain, medium chain, and very long chain acyl-coa dehydrogenase deficiencies, of approximately 1/12 000. As a result, cost-benefit ratios for this approach should be systematically examined.- - - - - - - - - - ranking = 2keywords = myopathy (Clic here for more details about this article) |
3/46. Leptomeningeal signet-ring cell carcinomatosis presenting with ophthalmoplegia, areflexia and ataxia.We report a very rare case of occult leptomeningeal carcinomatosis (LC) in whom repeated cytological examination did not show malignant cells in cerebrospinal fluid (CSF) and the primary focus was not discovered by extensive survey. The patient presented with ophthalmoplegia, ataxia and areflexia mimicking miller fisher syndrome (MFS) at the initial stage, and later, the clinical profile and laboratory findings including CSF examination simulated tuberculous meningitis. Postmortem autopsy disclosed metastatic signet-ring cell carcinoma infiltrating into cranial nerves and leptomeninges. We would like to emphasize that LC sometimes shows symptoms and signs similar to MFS or tuberculous meningitis.- - - - - - - - - - ranking = 270.78290092212keywords = ophthalmoplegia (Clic here for more details about this article) |
4/46. Utilization behavior as a white matter disconnection syndrome.We report a case of utilization behavior that was examined neuropathologically. A 72-year-old right-handed male patient, who was admitted with a complaint of transient loss of consciousness, displayed utilization behavior several times. He used daily objects that were placed in front of him, such as a teacup and a toothbrush, without instructions to do so. If the examiner asked the patient not to use the objects, the patient did not use them. MRI revealed acute infarction of the left superior frontal gyrus, where decreased blood flow was revealed by SPECT. The patient died of an acute worsening of dilated cardiomyopathy. Neuropathological examination demonstrated an acute phase infarction of the subcortical white matter of the left superior frontal lobe, which correlated well with neuroradiological findings. Utilization behavior has been thought a "frontal lobe symptom". However, we propose that utilization behavior might be considered a white matter disconnection syndrome.- - - - - - - - - - ranking = 1keywords = myopathy (Clic here for more details about this article) |
5/46. The double vision decision.A 50-year-old man experienced the acute onset of ophthalmoplegia, ataxia, and hyporeflexia. Evaluation led to the diagnosis of miller fisher syndrome (MFS). Appropriate evaluation and management of MFS is discussed.- - - - - - - - - - ranking = 54.156580184425keywords = ophthalmoplegia (Clic here for more details about this article) |
6/46. Bickerstaff's brainstem encephalitis associated with IgM antibodies to GM1b and GalNAc-GD1a.This is the first report of a case of Bickerstaff's brainstem encephalitis (BBE) associated with IgM antibodies to GM1b and GalNAc-GD1a. Subsequent to campylobacter jejuni enteritis, the patient rapidly developed consciousness disturbance and hyperreflexia in addition to external ophthalmoplegia and cerebellar-like ataxia. EEG showed transient 7 Hz monorhythmic theta activities, predominantly in the front-central area. He received high doses of immunoglobulin intravenously and had completely recovered 3 months later. High anti-GM1b and anti-GalNAc-GD1a IgM antibody titers present during the acute phase decreased with his clinical improvement. An absorption study showed the anti-GM1b and anti-GalNAc-GD1a IgM antibodies to be cross-reactive. Anti-GM1b and anti-GalNAc-GD1a antibodies have been detected in some patients who developed guillain-barre syndrome after C. jejuni enteritis, whereas the anti-GQ1b IgG antibody is associated with BBE. infection by C. jejuni bearing a GM1b-like or GalNAc-GD1a-like lipooligosaccharide may trigger the production of anti-GalNAc-GD1a and anti-GM1b IgM antibodies. It is not clear why our patient developed BBE rather than guillain-barre syndrome. These antibodies may, however, prove useful serological markers for identifying BBE patients who do not have the anti-GQ1b IgG antibody.- - - - - - - - - - ranking = 54.156580184425keywords = ophthalmoplegia (Clic here for more details about this article) |
7/46. Infantile Parkinsonism-dystonia and elevated dopamine metabolites in CSF.Two girls and one boy are described, with severe infantile parkinsonism-dystonia. This syndrome is usually caused by endogenous dopamine deficiency but in these patients was associated with elevated dopamine metabolites in CSF and an unusual eye movement disorder: ocular flutter together with saccade initiation failure. Pyramidal tract signs also emerged in the course of the disease in two patients. This combination of symptoms and biochemical findings suggests a unique pathogenic mechanism.- - - - - - - - - - ranking = 0.22649377490315keywords = ocular (Clic here for more details about this article) |
8/46. Familial myopathy with tubular aggregates associated with abnormal pupils.The authors describe familial tubular aggregate myopathy associated with abnormal pupils. Four family members from two generations had myopathy and pupillary abnormalities. The myopathologic findings consisted of tubular aggregates in many fibers but predominantly type I fibers.- - - - - - - - - - ranking = 6keywords = myopathy (Clic here for more details about this article) |
9/46. Bickerstaff brainstem encephalitis. A case report.A 33-year-old woman three weeks after a febrile illness presented with a syndrome of ophthalmoplegia, ataxia and areflexia (SOAA) that characterizes clinically both Bickerstaff and Miller Fisher syndromes. The normality of the electrophysiological tests performed, the CSF findings and the magnetic resonance images proved that the syndrome stemmed from brainstem pathology.- - - - - - - - - - ranking = 54.156580184425keywords = ophthalmoplegia (Clic here for more details about this article) |
10/46. Localization of the pathological process in miller fisher syndrome.A 64 year old woman died at the third attack of MFS. Histological examination demonstrated segmental demyelination and axonal swelling of the peripheral nerves studied, oculomotor included. In the C.N.S. only mild chromatolytic changes and rare pyknosis of the nerve cells in the midbrain were found without signs of primary inflammation. We reviewed the findings in all the 4 anatomoclinical cases of MFS and in 2 cases of GBS with ophthalmoplegia or ataxia. With one exception, they appear to be concordant with those of our case. As the histological examination showed CNS involvement consequent upon peripheral nerve impairment, we are bound to change our opinion on the nosological position of MFS. Any small CT enhancements in the brain in MFS may be due, as in some cases of demyelinating polyneuropathy, to focal rupture of the blood-brain barrier.- - - - - - - - - - ranking = 54.156580184425keywords = ophthalmoplegia (Clic here for more details about this article) |
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