Post-ictal recovery of anarthria and weakness in MELAS syndrome.
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Adult↗
Biomedical subjects
J Finsterer
Publications and source records attributed to J Finsterer.
Dropped head syndrome in mitochondriopathy.
In a 63-year-old, 165-cm-tall woman with a history of repeated tick bites, dilative cardiomyopathy, osteoporosis, progressive head ptosis with neck stiffness and cervical pain developed. The family history was positive for thyroid dysfunction and neuromuscular disorders. Neurological examination revealed prominent forward head drop, weak anteflexion and retroflexion, nuchal rigidity, weakness of the shoulder girdle, cogwheel rigidity, and tetraspasticity. The lactate stress test was abnormal. Electromyograms of various muscles were myogenic. Muscle biopsy showed non-specific myogenic abnormalities and generally weak staining for cytochrome oxydase. Mitochondriopathy with multi-organ involvement was suspected. The response to anti-Parkinson medication was poor. In conclusion, dropped head syndrome (DHS) may be due to multi-organ mitochondriopathy, manifesting as Parkinsonism, tetraspasticity, dilative cardiomyopathy, osteoporosis, short stature, and myopathy. Anti-Parkinson medication is of limited effect.
Borrelia Infections↗
[Limb girdle muscular dystrophies].
Limb girdle muscular dystrophies (LGMDs) are a genetically heterogeneous group of primary myopathies involving progressive weakness and wasting of the muscles in the hip and shoulder girdles, with distal spread to the bulbar or respiratory musculature in rare cases. Depending on the mode of genetic transmission, six autosomal dominant forms (LGMD1A-F, 10-25%) and ten autosomal recessive forms (LGMD2A-J, 75-90%) are currently known. The prevalence of LGMDs is 0.8/100,000. These conditions are caused by mutations in genes encoding for myotilin (5q31, LGMD1A), lamin A/C (1q11-q21.2, LGMD1B), caveolin-3 (3p25, LGMD1C), unknown proteins (7q, LGMD1D, 6q23, LGMD1E, 7q32.1-32.2., LGMD1F), calpain-3 (15q15.1-21.1, LGMD2A), dysferlin (2p13.3-13.1, LGMD2B), gamma-sarcoglycan (13q12, LGMD2C), alpha-sarcoglycan, also known as adhalin (17q12-q21.3, LGMD2D), beta-sarcoglycan (4q12, LGMD2E), delta-sarcoglycan (5q33-q34, LGMD2F), telethonin (17q11-q12, LGMD2G), E3-ubiquitin ligase (9q31-q34.1, LGMD2H), fukutin-related protein (19q13.3, LGMD2I), and titin (2q31, LGMD2J). Cardiac involvement has been described for LGMD1B-E, LGMD2C-G, and LGMD2I. The time of onset varies between early childhood and middle age. There is no male or female preponderance. Disease progression and life expectancy vary widely, even among different members of the same family. The diagnosis is based primarily on DNA analysis. The history, clinical neurological examinations, blood chemistry investigations, electromyography, and muscle biopsy also provide information that is helpful for the diagnosis. No causal therapy is currently available.
Genetic Predisposition to Disease↗
Skeletal muscle involvement in congenital long QT syndrome.
Skeletal muscle involvement in a genetically confirmed congenital long QT syndrome (LQTS) has not been reported. In a 36-year-old male, intracerebral bleeding from a brainstem cavernoma suddenly occurred. His history was noteworthy for congenital LQTS due to a point mutation in the KVLQT1-gene on chromosome 11. The mutation was also found in his two daughters, his sister, her daughter and his mother. His ECG showed sinusrhythm and a QTc-interval of 0.46 ms. Needle-EMG from the right abductor pollicis, left brachial biceps, left extensor digitorum, and right anterior tibial muscle(s), carried out because muscle involvement had been previously reported in clinically diagnosed congenital LQTS, revealed abnormal spontaneous activity, but otherwise normal motor unit architecture. LQTS, due to a KVLQT1 mutation, may manifest not only in the heart, but subclinically also in the skeletal muscle.
Action Potentials↗
Candida sepsis with intramyocardial abscesses mimicking left ventricular noncompaction.
Left ventricular (LV) noncompaction is a rare abnormality characterized by more than three trabeculations protruding from the LV wall, distal to the papillary muscles and visible in one echocardiographic image plane. The intertrabecular spaces are perfused from the LV cavity, as visualized on color Doppler imaging. Differential diagnoses of LV noncompaction are intraventricular thrombi, false tendons, aberrant bands, intramyocardial hematoma, cardiac metastases and the apical type of hypertrophic cardiomyopathy. Intramyocardial abscesses have not been reported as a differential diagnosis of LV noncompaction. In the patient presented, cardiac microabscesses due to candida sepsis mimicked LV noncompaction and should be considered in the differential diagnosis of LV noncompaction.
Abscess↗
Mitochondriopathies.
Mitochondriopathies (MCPs) are either due to sporadic or inherited mutations in nuclear or mitochondrial DNA located genes (primary MCPs), or due to exogenous factors (secondary MCPs). MCPs usually show a chronic, slowly progressive course and present with multiorgan involvement with varying onset between birth and late adulthood. Although several proteins with signalling, assembling, transport, enzymatic function can be impaired in MCP, most frequently the activity of the respiratory chain (RC) protein complexes is primarily or secondarily affected, leading to impaired oxygen utilization and reduced energy production. MCPs represent a diagnostic challenge because of their wide variation in presentation and course. Systems frequently affected in MCP are the peripheral nervous system (myopathy, polyneuropathy, lactacidosis), brain (leucencephalopathy, calcifications, stroke-like episodes, atrophy with dementia, epilepsy, upper motor neuron signs, ataxia, extrapyramidal manifestations, fatigue), endocrinium (short stature, hyperhidrosis, diabetes, hyperlipidaemia, hypogonadism, amenorrhoea, delayed puberty), heart (impulse generation or conduction defects, cardiomyopathy, left ventricular non-compaction heart failure), eyes (cataract, glaucoma, pigmentary retinopathy, optic atrophy), ears (deafness, tinnitus, peripheral vertigo), guts (dysphagia, vomiting, diarrhoea, hepatopathy, pseudo-obstruction, pancreatitis, pancreas insufficiency), kidney (renal failure, cysts) and bone marrow (sideroblastic anaemia). Apart from well-recognized syndromes, MCP should be considered in any patient with unexplained progressive multisystem disorder. Although there is actually no specific therapy and cure for MCP, many secondary problems require specific treatment. The rapidly increasing understanding of the pathophysiological background of MCPs may further facilitate the diagnostic approach and open perspectives to future, possibly causative therapies.
Animals↗
Histological detection of intramyocardial abscesses in Candida sepsis mimicking left ventricular non-compaction/hypertrabeculation on echocardiography.
Left ventricular non-compaction/hypertrabeculation (LVHT) is a rare cardiac abnormality characterized by more than three trabeculations protruding from the left ventricular wall, apically to the papillary muscles, visible in one echocardiographic image plane and intertrabecular spaces, perfused from the ventricular cavity. LVHT is frequently associated with neuromuscular disorders. Differential diagnoses of LVHT are intraventricular thrombi, false tendons, aberrant bands, intramyocardial hematoma, cardiac metastases and the apical type of hypertrophic cardiomyopathy. Intramyocardial abscesses have not been reported as a differential diagnosis of left ventricular non-compaction. In the presented case, cardiac microabscesses as a result of Candida sepsis mimicked left ventricular non-compaction in a 55-year-old man with hypopharyngeal carcinoma who died 20 days after chemotherapy. These microabscesses were not visible on echocardiography but were detected only at histologic examination of the myocardium. This case shows that intramyocardial abscesses as a result of Candida sepsis are a rare differential diagnosis of LVHT.
Abscess↗
Cerebrospinal fluid neuron-specific enolase in non-selected patients.
The degree to which cerebrospinal fluid (CSF) neuron-specific enolase (NSE) contributes to the diagnosis and prognosis of disorders of the central nervous system (CNS) or peripheral nervous system (PNS) is still under debate. The aim of the study was thus to assess the validity of CSF-NSE levels in the diagnostic work-up of these conditions. The study consecutively included 106 adult patients who had undergone a diagnostic spinal tap or myelography during the diagnostic work-up for various CNS or PNS disorders. Thirty-five of these patients (16 F, 19 M, aged 24-88 years) without indication of a CNS disorder and with normal routine CSF investigations served as controls. The remaining 71 patients (31 F, 40 M, aged 28-87 years) constituted the disease group. CSF-NSE was independent of sex and age. The upper reference limit of CSF-NSE was 0.01536 ng/L. CSF-NSE was elevated in 13 of the 71 patients (18%): 6 with metabolic myopathy, 4 with polyneuropathy and 3 with hepatic encephalopathy, multiple sclerosis and paraspasticity, respectively. Only 6 of the 13 patients (46%) showed CNS involvement. The study shows that CSF-NSE is elevated in only one-fifth of unselected patients who consecutively undergo a spinal tap. CSF-NSE is elevated most frequently in patients with metabolic myopathy and polyneuropathy, even in cases without CNS abnormalities.
Adult↗
Stress lactate in mitochondrial myopathy under constant, unadjusted workload.
As it is under debate if determination of lactate during cycle ergometry (lactate stress testing, LST) under a continuous, unadjusted, low workload is a valuable diagnostic tool for mitochondrial myopathy (MMP), the present study aimed to investigate how sensitive the LST is in a large cohort of patients with indications for MMP (MMP patients). Serum lactate was determined once before, three times during, and once after a 15-min, constant 30 W-workload on a bicycle ergometer in 115 healthy controls, 166 patients with neurological disorders other than MMP, and 291 MMP patients. Serum lactate's upper reference limit at rest, 5, 10, 15 min after starting, and 15 min after finishing the exercise was 2.0, 2.0, 2.1, 2.0 and 1.7 mmol/l, respectively. Resting lactate was increased in 75 MMP patients (26%). The specificity of resting lactate determination was 84%. The sensitivity of the LST was 66% and the specificity 84%. Among the 192 MMP patients with abnormal LST, 120 (63%) had a normal resting lactate. The LST is abnormal in two thirds of the MMP patients. The sensitivity of the LST is higher than that of resting lactate determination. The LST is a simple and cheap but effective and reliable screening method for detecting the impaired oxidative metabolism in MMP.
Adolescent↗
Nitroglycerin-aggravated pre-eclamptic posterior reversible encephalopathy syndrome (PRES).
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Adult↗
[Hereditary spastic paraplegias].
Hereditary spastic paraplegias (HSP) are characterised by symmetric spastic paraplegia, pallhypaesthesia, and urinary dysfunction (uncomplicated HSP). Complicated HSP is present if uncomplicated HSP additionally presents with epilepsy, dementia, cataract, extrapyramidal dysfunction, amyotrophy, polyneuropathy, or ichthyosis. Clinically, HSP are similar but genetically even more heterogeneous. The disease course is slowly progressive and, the earlier the disease onset, the slower the course. Causes of HSP are mutations in 20 different genes, of which eight have been identified so far. A single mutation can cause complicated and uncomplicated HSP. Onset and severity can be quite variable between both groups and within families. Despite molecular genetic advances, diagnosis of HSP still relies on clinical features and the exclusion of various differential diagnoses. Neuropathologically, there is degeneration of corticospinal, posterior column, and spinocerebellar axons. Most likely, degeneration of the longest CNS axons is due to an impaired energy supply of the anterograde and retrograde axonal transport.
Axons↗
Letter to the Editors: concerning the article "Amyloid of heart and lungs in a patient with low output syndrome after coronary artery bypass grafting" by Massoudy P, Szabo AK, Dirsch O, et al. Herz 2003;28;453-6.
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Aged↗
[Fibrate and statine myopathy].
Fibrates and statines are useful in preventing arteriosclerosis and thromboembolic events. However, they should be administered with caution. The risk of fibrate/statine myopathy, the most common side effect of fibrate/statine therapy, increases with dosage, combination of a fibrate with a statine,hypothyroidism, renal insufficiency, and intake of cytochrome P450 inhibitors. In case of clinical signs of a fibrate/statine myopathy such as proximal myalgias, stiffness,weakness, and dark urine, appropriate investigations should be initiated. If they establish the diagnosis of fibrate/statine myopathy, lipid lowering drugs should be immediately withdrawn. If rhabdomyolysis is present, prompt and adequate therapy is required. Though muscle abnormalities are rare side effects, fibrate/statine therapy should be regularly monitored with regard to clinical and laboratory alterations. The new "superstatines" rosuvastatine and pitavastatine reduce serum cholesterol more effectively than the established statines, but it is not known if they also have fewer muscular side effects than established statines.
Animals↗
Left atrial appendage morphology: comparison of transesophageal images and postmortem casts.
BACKGROUND: Aim of the study was to compare 1) transesophageal echocardiographic (TEE) measurements of the left atrial appendage (LAA) with postmortem casts and 2) the TEE with the postmortem diagnosis of LAA thrombi. METHODS: From the TEE images and LAA casts length, orifice, diameter and number of branches were assessed. LAA area was measured by TEE and LAA volume from the cast. RESULTS: In 12 patients who underwent TEE and autopsy, measurements of LAA length and area correlated well with the cast volume ( r=0.6 to r=0.93). The agreement between TEE and LAA casts, concerning the number of branches, was only moderate. In one patient, a false positive diagnosis of a LAA thrombus occurred. CONCLUSIONS: LAA size and orifice diameter can be assessed reliably by TEE. The complex LAA morphology hampers measurements of LAA length, branches, course and diagnosis of thrombi.
Acrylic Resins↗
Nonsteroidal anti-inflammatory drugs in patients with cardio- or cerebrovascular disorders.
Nonsteroidal anti-inflammatory drugs (NSAIDs) are a frequently prescribed group of highly effective drugs of which the most well-known side effect is gastrointestinal peptic ulcer. However, NSAIDs have additional renal, cardiovascular, hematological, dermatological, and neurological side effects. Although the spectrum of side effects is slightly different between the conventional NSAIDs and the recently developed cyclooxygenase 2 (COX-2) inhibitors, their overall spectrum is quite similar. Aim of this review is to summarize the current knowledge about NSAIDs and their effects on patients with cardio- or cerebrovascular disorders. NSAIDs interact with many drugs which are used in patients with cardio- or cerebrovascular disorders: They attenuate the effects of diuretics, betablockers, ACE inhibitors and AT-2 blockers, thus leading to uncontrolled hypertension or aggravation of heart failure. They increase digoxin levels, potentiate the effect of oral anticoagulants and interact with platelet inhibitors, thus leading to a higher bleeding risk. There are indications that NSAIDs may induce hypertension in normotensives and that COX-2 inhibitors may lead to an increased rate of myocardial infarction and strokes. Based on these data it is recommended that NSAIDs should be avoided in patients with cardio- or cerebrovascular disorders and alternative pharmaceutical, physical or surgical therapy should be applied. If NSAIDs are inevitable, their side effects should be well monitored; they should be prescribed with caution when given in combination with diuretics, betablockers, ACE inhibitors, AT-2 blockers, digitalis, oral anticoagulants and platelet inhibitors. COX- 2 inhibitors should be avoided in patients with known coronary or cerebrovascular disorders. In patients with uncontrolled hypertension or worsening of heart failure, unreported NSAID-use should be considered. Generally, there is a need to develop further analgetic drugs without the described side effects for patients with cardio- and cerebrovascular disorders.
Adrenergic beta-Antagonists↗
Is left ventricular hypertrabeculation/ noncompaction a cardiac manifestation of Fabry's disease?
BACKGROUND AND OBJECTIVES: Some types of hypertrophic cardiomyopathy are due to cardiac Fabry's disease. Since left ventricular hypertrabeculation/noncompaction (LVHT) is regarded a subtype of hypertrophic cardiomyopathy, we looked for the alpha-galactosidase levels in blood leukocytes of LVHT patients. METHODS: Included were male patients in whom LVHT was diagnosed between June 1995 and September 2002. Echocardiographic criteria for LVHT were 1) >3 trabeculations protruding from the left ventricular wall, apically to the papillary muscles, visible in 1 image plane, and 2) intertrabecular spaces perfused from the ventricular cavity, as visualised on colour Doppler imaging. Trabeculations were defined as structures with the same echogenicity as the myocardium and moving synchronously with the ventricular contractions. Excluded were patients with known neuromuscular disorders. All patients were asked for systemic manifestations of Fabry's disease and blood tests were taken. The alpha-galactosidase-A activity was determined by means of an established fluorometric assay in blood leukocytes. RESULTS: Forty-one patients were invited and 26 accepted the invitation. The remaining patients had died (n=5), lived abroad (n=5) or were unwilling (n=5). Among the 26 patients, aged 28-78 years, who followed the invitation, one had renal failure due to renal shrinkage and one had suffered from a stroke 3 years previously. Leukocyte alpha-galactosidase levels ranged from 70 to 188 nM/mg Prot/h (normal: > or =42 nM/mg Prot/h). In none of the patients was the alpha-galactosidase level reduced. CONCLUSION: LVHT does not seem to be a manifestation of cardiac Fabry's disease. To definitively exclude Fabry's disease, however, endomyocardial biopsy is required.
Adult↗
Quality of blood pressure control and risk of cerebral bleeding in patients with oral anticoagulation.
BACKGROUND: We assessed how many patients on long-term oral anticoagulation (OAC) (i) suffer from arterial hypertension (AH), (ii) are aware of AH, (iii) need improvement of their therapy and (iv) suffer from cerebral bleeding. METHODS: Outpatients on long-term OAC were asked to measure blood pressure at least 4 times. Blood pressure was classified as normotensive if at least 75 % of all measurements were < 139/89 mm Hg; as mild/moderate AH if > 25 % of all measurements were 140 - 179 mm Hg systolic or 90 - 109 mm Hg diastolic; and as severe AH if > 25 % of all measurements were > 180 mm Hg systolic or > 110 mm Hg diastolic. Bleeding complications were registered. RESULTS: Of the 235 patients (108 female, 67 +/- 12 years), 80 % suffered from AH. Severe AH was present in 5 %. Only 56 % were aware of suffering from AH. An improvement of antihypertensive therapy was needed in 64 %. Over 225 days, only one cerebral bleeding occurred. Blood pressure was normotensive in 30 % with known AH. CONCLUSIONS: Blood pressure control seems better in OAC patients than in normals, if the patient is aware of AH. Patients with AH on OAC are not aware of AH in > 50 %. Repeated blood pressure measurements in OAC are recommended, even if patients are not aware of AH.
Administration, Oral↗
Mitochondriopathy mimicking amyotrophic lateral sclerosis.
BACKGROUND: Mitochondriopathy has been rarely reported to imitate motor neuron disease. REVIEW SUMMARY: A 57-year-old, 157-cm-tall woman with clinical and electrophysiological features of motor neuron disease since 1993 is reported. She also had increased liver function parameters, hypothyroidism, and sinus tachycardia. Because her mother and sister had both died from assumed amyotrophic lateral sclerosis, familial ALS was diagnosed. On reevaluation, screening for superoxide-dismutase gene mutations was negative, but lactate stress testing was abnormal and muscle biopsy revealed patchy COX deficiency and abnormal mitochondria. Analysis of the muscle mtDNA revealed substitutions in the isoleucine tRNA, in the ATPase-6, and in the cytochrome-b gene, respectively. Based on these data, the diagnosis of ALS was changed to mitochondriopathy. CONCLUSIONS: Mitochondriopathy may mimic ALS, phenotypically and electrophysiologically. In patients with an ALS phenotype, slow progression, and multisystem involvement, mitochondriopathy should be considered a diagnostic possibility.
Amyotrophic Lateral Sclerosis↗