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Familial amyotrophic chorea and acanthocytosis, also known as the Levine-Critchley syndrome, is a rare inherited disease characterized primarily by central nervous system involvement with progressive demyelinization and autosomic or dominant transmission. Clinical symptoms include orofaciolingual dyskinesia and involuntary choreiform movements associated with skeletal muscle atrophy due to axonal demyelinization and erythrocyte acanthocytosis. A few patients have some cardiac abnormality, including an electrocardiographic pattern of left ventricular hypertrophy, left atrial wave abnormalities, non-specific ST-T wave changes, and a pseudonecrosis pattern with abnormal Q waves in the inferior leads. Two-dimensional echocardiography has disclosed concentric ventricular hypertrophy and the typical findings of congestive cardiomyopathy. We report the case of two brothers, 40 and 58 years old, who had asymmetric left ventricular hypertrophy (more marked in the younger brother), left ventricular mass index increase unrelated to a hypertensive state or the percent of circulating acanthocytes. Functional systolic parameters were normal. The younger brother had dilation of the aortic root and marked enlargement of the non-coronary Valsalva sinus, and both patients manifested mitral leaflet redundancy without evident prolapse. Our observations suggest the hypothesis that connective tissue and/or vessel muscle-elastic fiber pathology is associated with the well-known neurological disorders typical of the Levine-Critchley syndrome. It is thus advisable that these patients undergo thorough cardiovascular evaluation.
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PMID:[Cardiac involvement in familial amytrophic chorea with acantocytosis: description of two new clinical cases]. 871 61

The original Jones Criteria as proposed by Dr. T. Duckett Jones have been modified four times and the updated revised criteria were published in 1992. According to this latest publication major manifestations are carditis, polyarthritis, chorea, erythema marginatum and subcutaneous nodules. Minor manifestations include fever, arthralgia and laboratory findings of elevated erythrocyte sedimentation rate, C-reactive protein and prolonged PR interval on ECG. For making a diagnosis of acute rheumatic fever, two major, or one major and two minor manifestations must be accompanied by supporting evidence of antecedent group A streptococcal infection in the form of positive throat culture or elevated or rising anti-streptolysin titre. The updated guidelines also highlighted a subgroup of "exceptions to Jones Criteria" for patients with chorea, indolent carditis and previous history of rheumatic fever or "rheumatic heart disease". Role of echocardiography has not been defined in these modifications but may be important, as clinical detection of soft murmurs may be difficult due to tachycardia. Doppler and color flow mapping is more sensitive in picking up minor digress of valvular regurgitation. Several studies have confirmed that the yield of carditis with valvular regurgitation increased with use of echocardiography in patients with acute rheumatic fever. Also echocardiography is of great help in mixed valve lesions to determine the severity of each lesion. Other abnormalities detected on echocardiography in acute carditis include prolapse of the valve, focal nodular thickening of leaflets and pericardial effusion. Jones Criteria are guidelines to assist the physician and should not be substituted for clinical judgement as strictly following them may result in underdiagnosis of this disease in our country.
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PMID:Diagnosis of rheumatic fever: current status of Jones Criteria and role of echocardiography. 1087 70

The original Jones Criteria as proposed by Dr. T. Duckett Jones have been modified four times and the updated revised criteria were published in 1992. According to this latest publication major manifestations are carditis, polyarthritis, chorea, erythema marginatum and subcutaneous nodules. Minor manifestations include fever, arthralgia and laboratory findings of elevated erythrocyte sedimentation rate, C-reactive protein and prolonged PR interval on ECG. For making a diagnosis of acute rheumatic fever, two major, or one major and two minor manifestations must be accompanied by supporting evidence of antecedent group A streptococcal infection in the form of positive throat culture or elevated or rising anti-streptolysin titre. The updated guidelines also highlighted a subgroup of "exceptions to Jones Criteria" for patients with chorea, indolent carditis and previous history of rheumatic fever or "rheumatic heart disease". Role of echocardiography has not been defined in these modifications but may be important, as clinical detection of soft murmurs may be difficult due to tachycardia. Doppler and color flow mapping is more sensitive in picking up minor digress of valvular regurgitation. Several studies have confirmed that the yield of carditis with valvular regurgitation increased with use of echocardiography in patients with acute rheumatic fever. Also echocardiography is of great help in mixed valve lesions to determine the severity of each lesion. Other abnormalities detected on echocardiography in acute carditis include prolapse of the valve, focal nodular thickening of leaflets and pericardial effusion. Jones Criteria are guidelines to assist the physician and should not be substituted for clinical judgement as strictly following them may result in underdiagnosis of this disease in our country.
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PMID:Diagnosis of rheumatic fever: current status of Jones Criteria and role of echocardiography. 1112 13

Detailed echocardiographic analysis was performed in 10 children with first episode of acute rheumatic fever who presented with acute rheumatic polyarthritis or rheumatic chorea and had no clinically detectable evidence of active carditis. Significant changes were observed in the form of mitral valve prolapse with regurgitation in 3, aortic valve prolapse with regurgitation in 1 and mitral valve billowing without regurgitation in 1 patient each. A significant (p < 0.001) anterior mitral chordal elongation was observed in both the groups--rheumatic polyarthritis and chorea when compared with age and sex matched control subjects. Mitral annular diameter was found to be increased (p < 0.001) in patients presenting with polyarthritis alone. These observations of clinically silent but echocardiographically detectable element of carditis forms the basis of how patients of acute rheumatic fever develop permanent valvular deformities in their latter lives without revealing any cardiac affection earlier.
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PMID:Usefulness of echocardiography in detection of subclinical carditis in acute rheumatic polyarthritis and rheumatic chorea. 1122 18

We report on 2 adult patients presenting with choreic movements as the main clinical feature of mitochondrial cytopathy. One patient exhibited a sensory neuronopathy and ophthalmoplegia. The other had ptosis, a proximal myopathy, and a sensory neuropathy. The diagnosis of mitochondrial cytopathy was established by the presence of ragged red fibers, cytochrome C oxydase-negative fibers, and a defect of the complex IV of the respiratory chain in muscle biopsy. No mutations in mitochondrial DNA were detected. The choreic movements observed in juvenile forms of mitochondrial cytopathy are rarely observed in adults. Although striatal vulnerability is commonly reported in patients with mitochondrial disorders, the mechanism by which the mitochondrial dysfunction leads to chorea is not known.
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PMID:Adult-onset chorea and mitochondrial cytopathy. 1559 39

We report herein the case of a 28-year-old man presenting with hyperglycemic chorea-ballism (HCB) in addition to mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). He was admitted to a local hospital due to weight loss, general fatigue and thirst. The patient had diabetes mellitus, with a blood glucose level of 738 mg/dl and HbA1c of 19.8%. Although insulin therapy improved hyperglycemia, he noticed involuntary movements in the right upper and lower limbs, which subsequently extended to the left side. The patient was thus transferred to our hospital. He displayed short stature (154 cm) and emaciation, and a maternal family history of diabetes mellitus was elicited. He had no history of stroke-like episode, headache, vomiting and seizure. Neurological examination revealed low intelligence (IQ 57), mild sensorineural deafness, and chorea-ballism in the extremities and head without ptosis or eye movement disturbance. Brain computed tomography (CT) demonstrated areas of high density, while T1-weighted magnetic resonance imaging (MRI) revealed extreme hyperintensity and T2-weighted MRI showed hyperintensity in bilateral caudate nuclei, putamina and globi pallidus. HCB was diagnosed. In, CSF, lactate level was increased to 43.9 mg/dl (n, 4-16), pyruvate level was 1.65 mg/dl (n, 0.3-0.9) and total protein concentration was 59 mg/dl. Histological examination of a biopsy sample from the biceps brachii muscle demonstrated ragged-red fibers. An A3243G point mutation in the tRNA(Leu(UUR)) gene was detected, indicating the presence of MELAS. Involuntary movements improved on treatment with haloperidol up to 4.5 mg/day. HCB usually appears in elderly individuals, and cases less than 40-years-old are very rare. The mitochondrial dysfunction in MELAS may accelerate development of HCB.
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PMID:[A case of MELAS presenting juvenile-onset hyperglycemic chorea-ballism]. 1611 32

Mutations in the mitochondrial DNA polymerase gamma (POLG) cause a highly pleomorphic disease spectrum, and reports about their frequencies in ataxia populations yield equivocal results. This leads to uncertainties about the role of POLG genetics in the workup of patients with unexplained ataxia. A comprehensive characterization of POLG-associated ataxia (POLG-A) will help guide genetic diagnostics and advance our understanding of the disease processes underlying POLG-A. Thirteen patients with POLG-A were assessed by standardized clinical investigation, nerve conduction studies, motor-evoked potentials, magnetic resonance imaging (MRI) and transcranial sonography (TCS). The findings were compared with 13 matched patients with Friedreich's ataxia (FA). In addition to the well-known POLG-associated features of chronic external ophthalmoplegia (100 %), areflexia to the lower extremity (100 %), impaired vibration sense (100 %), bilateral ptosis (69 %) and epilepsy (38 %), also hyperkinetic movement disorders were frequent in POLG-A patients, including chorea (31 %), dystonia (31 %) and myoclonus (23 %). Similar to FA, polyneuropathy was of sensory axonal type (100 %). In contrast to FA, none of the POLG-A patients showed impaired central motor conduction. TCS demonstrated less enlargement of the fourth ventricle and more diffuse cerebellar hyperechogenicity in POLG-A. Corresponding to TCS, MRI revealed no or only mild cerebellar atrophy in most POLG-A patients (85 %). POLG ataxia presents with the clinical characteristics of both afferent and cerebellar ataxia. Cerebellar alterations diffusely involve various parts of the cerebellum, yet cerebellar atrophy is generally mild. POLG-A presents with a high load of distinct non-ataxia features, namely, sensory neuropathy, external ophthalmoplegia, ptosis, epilepsy and/or hyperkinetic movement disorders. Involvement of the corticospinal tract, however, is rare.
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PMID:Characterizing POLG ataxia: clinics, electrophysiology and imaging. 2252 63

Leigh syndrome (or subacute necrotizing encephalomyelopathy) is a rare neurodegenerative disorder characterized by psychomotor retardation or regression, typically occurring in stepwise decrements. Onset is typically between ages 3 and 12 months. Neurological manifestations include hypotonia, spasticity, movement disorders (including chorea), cerebellar ataxia, and peripheral neuropathy, whereas extraneurological manifestations may include hypertrophic cardiomyopathy, hypertrichosis, anemia, renal tubulopathy, liver involvement, ptosis, and muscle weakness. Approximately 50% of affected individuals die by age 3 years, most often as a result of respiratory or cardiac failure. We report a case of 22-month-old female child presenting to us with severe failure to thrive, dysmorphic features, hirsutism, external ophthalmoplegia epilepsy, and neuroregression with characteristic findings of Leigh's syndrome on neuroimaging and her muscle biopsy revealed evidence of mitochondrial respiratory chain defect involving complex IV and SURF1 mutation.
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PMID:Facial Dysmorphism, Hirsutism, and Failure to Thrive as Manifestation of Leigh Syndrome in a Child with SURF1 Mutation. 3304 41