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Wolfgang Kopsa

Publications and source records attributed to Wolfgang Kopsa.

11 recordsLinked to original sources
PubMed2005

Basal Ganglia calcification in mitochondrial disorders.

Though basal ganglia calcification (BGC) has been recognized as a feature of mitochondriopathy, little is known about its frequency in a larger cohort. The aim of this work was to assess the frequency of BGC, type and frequency of clinical and additional imaging central-nervous-system (CNS) abnormalities and of non-CNS abnormalities in mitochondriopathy patients with BGC. Retrospectively reviewed were the records of all mitochondriopathy patients in whom BGC was found on cerebral CT during 10 years. Among those who underwent cerebral CT, thirty-six, 24 women, 12 men, aged 33-93 years, showed BGC. The most frequent clinical CNS manifestations in these patients were epilepsy (n = 9), Parkinson syndrome (n = 9), dementia (n = 7), dysarthria (n = 5), spasticity (n = 4), tremor (n = 4), or stroke (n = 4). Additional cerebral CT-findings were atrophy (n = 10), lacunas (n = 6), leucaraiosis (n = 6), focal gliosis (n = 4), or stroke (n = 1). MR imaging, carried out in 12 patients, confirmed BGC in one. The 36 patients presented with involvement of the CNS (n = 32), endocrine system (n = 29), peripheral nervous system (n = 28), heart (n = 23), inner ear (n = 16), eyes (n = 15), guts (n = 11), blood (n = 9), kidney (n = 2), or dermis (n = 2). BGC occurs in one sixth of non-selected patients with mitochondriopathy and is associated with clinical and imaging CNS abnormalities and multisystem disease in the majority of them.

Adult↗
PubMed2004

Adult unilateral periventricular pseudocysts with ipsilateral headache.

OBJECTIVES: Unilateral periventricular pseudocysts (PVPC), manifesting as ipsilateral headache have been only rarely reported in adults. CASE REPORT: In a 48-year-old woman, right-sided, pulsating headache occurred in 1999. Headache exclusively extended over the right head and periorbitally; it was frequently associated with a feeling of cold, lasted maximally for 1 day, and occasionally went along with nausea and right-sided lacrimation. Since January 2003, headache occurred daily with varying intensity. For headache, she was regularly taking doxepin (25 mg). Ordinary analgesics and tryptanes were only of minimal effect. Since 2001, left-sided hemi-hypesthesia occurred. CT and MRI scans of the brain disclosed right-sided cysts in the white matter with a maximal diameter of 1cm, partially grouped and partially disseminated and bilateral calcifications of the basal ganglia. Since hypoxemia/ischemia, subependymal hemorrhage, CNS infection, developmental defect of the mantle layer, chromosomal disorder, Zellweger syndrome, carbon monoxide intoxication, trauma, or mitochondriopathy were not causative, the etiology of PVPC remained questionable. CONCLUSIONS: Rarely, unilateral PVPC become symptomatic in adulthood, manifesting as ipsilateral headache, contralateral hemi-hypesthesia, depression, collapses, and slight cognitive decline. Clinical progression of the disease is not necessarily related to the progression of the imaging findings. PVPC should be included in the differential diagnosis of unilateral headache.

Adult↗
PubMed2004

Left ventricular hypertrabeculation/noncompaction and neuromuscular disorders in idiopathic dilated cardiomyopathy.

OBJECTIVE: Our aim was to assess 1) the association of idiopathic dilative cardiomyopathy (IDC) and left ventricular hypertrabeculation/noncompaction (LVHT), 2) the use of cardiac magnetic resonance imaging (CMRI) in IDC and 3) the association of IDC and neuromuscular disorders (NMD). METHODS: Patients in whom coronary heart disease had been excluded by coronary angiography and whose left ventricular end diastolic diameter was > 59 mm and fractional shortening < 25% with no other causes of cardiac dysfunction, were invited to participate. RESULTS: Among 25 patients, 18 refused CMRI (claustrophobia n = 13, inability to lie flat n = 5), thus 7 patients (2 female, 47-66 years) were included. LVHT was found in 5/7 cases. In 4/5 patients who were neurologically investigated, a NMD was found. In 2/7 cases echocardiography failed to visualise the ventricular apex. CONCLUSIONS: Patients with IDC should be investigated neurologically. In IDC patients with poor echocardiographic quality CMRI should be applied.

Aged↗
PubMed2003

Familial left ventricular hypertrabeculation in myotonic dystrophy type 1.

BACKGROUND: Familial left ventricular hypertrabeculation (LVHT)has not been described in myotonic dystrophy type 1 (MD1). CASE REPORT: Two MD1 patients are described, father and daughter, both presenting with LVHT. The father was a 45-year-old man with the typical MD1 phenotype starting in 1992. DNA analysis revealed a heterozygous expansion of 300 CTG repeats in the myotonic dystrophy protein kinase (DMPK) gene on chromosome 19q13.3. He had a history of successful electrocardioversion of atrial flutter into sinus rhythm. Cardiac history and clinical cardiologic examination were otherwise normal. On ECG, ST elevation was found exclusively. Transthoracic echocardiography revealed LVHT, previously described only in Becker's muscular dystrophy, metabolic myopathy, Barth syndrome, and other rare genetic disorders. In the 13-year-old daughter, occasional muscle cramps since 1998, discrete weakness of the left triceps brachii muscle, and discrete distal wasting of the upper limbs were found. Serum creatine kinase (CK) and electromyography were normal. The daughter carried an expansion of 140 CTG repeats in the DMPK gene. Clinical cardiologic examination as well as the ECG were normal. Echocardiography revealed LVHT,which was also confirmed by cardiac MRI. Neither the father nor the daughter required any cardiac medication. CONCLUSION: This study demonstrates that LVHT in MD1 may bea cardiac manifestation of the underlying skeletal muscle disorder, may show a familial occurrence, or may be associated with other cardiac abnormalities or isolated.

Adolescent↗
PubMed2003

Ischemic stroke and splenic rupture in a case of Streptococcus bovis endocarditis.

A 58-year-old man with an acute stroke suffered from splenic rupture. Streptococcus bovis was found in blood cultures, and gram-negative cocci were found in the infarcted spleen. Hemorrhagic transformation of the stroke occurred. Echocardiography showed aortic endocarditis. Cardiac surgery was not performed because of concern about cerebral bleeding. The patient died due to cerebral rehemorrhage after 3 weeks.

Blood↗
PubMed2002

Neurologic and cardiac progression of glycogenosis type VII over an eight-year period.

Little is known about the progression of phosphofructokinase deficiency (glycogenosis type VII, Tarui's disease). We describe a 66-year-old woman who had this disease diagnosed in 1997. Initial manifestations had included simple partial seizures since 1977, anginal chest pain since 1982, and muscle cramps since 1983. To prevent recurrent myocardial infarction, anticoagulation therapy with phenprocumon was initiated. Cardiac involvement progressed over an 8-year period, manifesting as low-voltage electrocardiogram (ECG), ectopic supraventricular tachycardia, thickened mitral valve, mitral valve insufficiency, enlarged left atrium, left ventricular hypertrophy, and diastolic dysfunction. Progression of neurologic involvement manifested as complex partial seizures, double vision, reduced tendon reflexes, central facial palsy, bradydiadochokinesia, and distal weakness of the upper extremities. Discontinuance of oral anticoagulation after 19 years, initiation of enalapril therapy, and administration of carbamazepine markedly improved the patient's condition.

Aged↗