Page 1 od 161 rezultati
We reported a 39-year-old man with myotonic dystrophy. He suffered from morning headache. Respiratory function tests showed restrictive pattern and arterial gas analysis showed hypoxia and hypercapnia with respiratory acidosis (PaCO2 50.8 mmHg, PaO2 63.8mmHg, pH 7.317, SaO2 89.8%). Polysomnograph
The case of a 45-year-old woman with pheochromocytoma, who presented with severe abdominal pain and headache, diabetes mellitus, lactic acidosis and pulmonary edema, is described and discussed. Spleen infarction, not so far described as an ischemic complication of pheochromocytoma, was seen in
A 9-year-old girl, treated for growth hormone deficiency, developed bitemporal progressive headache, diplopia, acute comitant esotropia and visual loss 3 months after starting recombinant growth hormone. An increased intracranial pressure was revealed by examination of ocular fundus and lumbar
The aim of the study was to detect the role of lactate acidosis, also to find the share of mitochondrial insufficiency in development of various neurologic syndromes in children and adolescents. The detection of cellular energetic metabolism and acid based imbalance is also important for finding the
A case of mitochondrial encephalomyopathy with lactic acidosis, a stroke-like episode (MELAS) without ragged red fiber, diagnosed by mitochondrial DNA testing, is reported. A 37-year-old woman experienced a sudden and recurrent headache with vomiting and stroke-like episodes. Brain CT and MRI showed
Valproic acid (VPA) is widely used as an anti-epileptic drug. The primary mechanism of VPA toxicity is interference with mitochondrial beta-oxidation, and it can exacerbate an underlying mitochondrial cytopathy. We report a case of Mitochondrial myopathy, encephalopathy, lactic acidosis, and
BACKGROUND
Camphor is a toxic hydrocarbon, found in numerous over-the-counter medicinal products and chemist-shop items. The consequences of camphor poisoning depend on the dose, and severe poisoning can result in death. Ingestion of camphor can cause seizures, apnoea, renal insufficiency, raised
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome has various presentations. We report on a case of MELAS in which alternate-sided homonymous hemianopia was the main symptom of recurrent neurological defects. A 19-year-old woman suffered from blurred vision,
Mitochondrial disorders are an uncommon, but important, cause of stroke-like clinical and imaging presentations in individuals under the age of 45 years. We present a 31-year-old man with a 4-year history of migraine-like headaches, type 2 diabetes mellitus, seizures, and hearing loss. Magnetic
In summary, severe hyperchloremic acidosis developed in two patients as a late complication after jejunoileal bypass for morbid obesity. This acidosis was associated with episodes of dizziness, ataxia, headache, weakness, confusion and transient loss of consciousness. Recognition of this symptom
Various mutations in the mitochondrial tRNA(Leu)(UUR) gene give rise to a variety of neurological disorders. Among these, mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS syndrome) are frequently associated with a tRNA(Leu)(UUR) mutation at nucleotide position 3243 of
This study reported on a 24-year-old woman who complained of a paroxysmal headache for six months and elevated blood pressure for four months. Laboratory examination revealed increased serum potassium and chloride levels, metabolic acidosis, suppressed renin activity, and increased plasma
OBJECTIVE
To report on severe acid-base disturbance in a child with symptomatic epilepsy treated with sulthiame.
RESULTS
A 9.5-year-old boy with chronic generalized tonic-clonic seizures was treated with carbamazepine and valproic acid. Because of poor seizure control, sulthiame was added to the
The case of 12 years-old boy with seizures, headache, severe vomit and focal neurological signs is reported. These episodes had several recurrences and regression with little neurologic deficits. In the investigation it was found: lactic acidosis; stroke like episodes and calcification in the basal
Accumulation of D-lactate after gastrointestinal surgery, particularly jejuno-ileal bypass, is an uncommon and often misdiagnosed clinical disturbance. The syndrome may be complicated by dizziness, ataxia, confusion, headache, memory loss, and aggressive behavior. Serum chemistries are often