Gene/Protein Disease Symptom Drug Enzyme Compound
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Reversible posterior leukoencephalopathy syndrome is an increasingly recognized brain disorder most commonly associated with hypertension, toxemia of pregnancy, or the use of immunosuppressive agents. Its clinical features include headache, decreased alertness, mental abnormalities, such as confusion, diminished spontaneity of speech, changed behavior ranging from drowsiness to stupor, seizures, vomiting, and abnormalities of visual perception like cortical blindness. Magnetic resonance imaging shows edematous lesions primarily involving the posterior supratentorial white matter and corticomedullary junction. We describe a 7-year-old uremic girl who developed neurological symptoms of posterior leukoencephalophaty syndrome during the course of acute poststreptococcal glomerulonephritis. Since the symptoms first appeared 24 h after a hypertensive crisis and the patient was uremic at the time of symptoms, we decided to report this patient to discuss the differential diagnosis of neurological symptoms developing during the course of acute poststreptococcal glomerulonephritis.
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PMID:Posterior leukoencephalopathy syndrome in poststreptococcal acute glomerulonephritis. 1146 12

Pseudotumor cerebri or benign intracranial hypertension is a syndrome of raised intracranial pressure without obvious explanation. Most patients are obese women at childbearing age. Symptoms and signs usually include headache, nausea, vomiting, edema of the papilla, visual obscurations and rarely palsy of the nervus abducens. The prognosis is generally good, but progressive visual loss and eventual blindness are major risks. We report the case of a 21-year-old non-obese young woman who developed pseudotumor cerebri while taking minocycline for acne therapy. Identical symptoms occurred upon inadvert rechallenge with minocycline for the second time.
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PMID:[Pseudotumor cerebri in minocyline treatment]. 1168 Jan 22

The coincidence of hemolysis, elevated liver enzymes, and low platelet count (HELLP) syndrome and cortical blindness is an uncommon but very dramatic event. We describe a case of HELLP syndrome complicating with acute cortical blindness before delivery. A 27 year-old woman, gravida 1, para 0, with normal medical history, was referred to our emergency department at the 33th week of gestation due to headache, vomiting, and blurred vision. The ophthalmologic examination showed intact pupillary light reflexes and normal ophthalmoscopic findings, but no light perception in either eye. Brain computed tomography showed normal findings. HELLP syndrome and preeclampsia was diagnosed based on the findings of hypertension and proteinuria as well as laboratory data. Prompt delivery was performed in order to achieve good maternal and neonatal outcomes.
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PMID:Hemolysis, elevated liver enzymes, and low platelet count (HELLP) syndrome with acute cortical blindness. 1172 Jan 49

A 45-year-old man presented with severe hypertension, headache, cortical blindness, and a depressed level of consciousness. A second patient, a 33-year-old woman, was admitted with pre-eclampsia. She developed lethargy, headache, bilateral extensor plantar responses, and seizures. The third patient, a 62-year-old man, presented with acute renal failure due to necrotising vasculitis and glomerulonephritis. Five days after treatment with immunosuppressive drugs had been initiated, he developed headache, confusion, seizures, and cortical blindness. Hypertensive encephalopathy is characterised by headache, vomiting, disturbances in cognition and level of consciousness, visual abnormalities, and seizures. Imaging studies often demonstrate oedema of the white matter in the posterior parietal and occipital areas of the brain. This so-called reversible posterior leucoencephalopathy syndrome is well known in patients with severe hypertension, but it is also associated with immunosuppressive drug use and renal failure. It can be recognised by its fairly characteristic clinical features (different combinations of headache, vomiting, changes in cognition and level of consciousness, seizures, muscle weakness, and visual symptoms) and by its specific imaging findings. Treatment consists of reducing the blood pressure and reducing or discontinuing the use of immunosuppressive drugs. If the treatment is started promptly, symptoms and imaging abnormalities are usually reversible.
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PMID:[Hypertensive encephalopathy: does not only occur at high blood pressure]. 1205 26

We report a 9-year-old boy with occipital lobe epilepsy who showed a prolonged QTc on the ictal electrocardiogram (ECG). He complained of sudden onset of blindness accompanied with vomiting and headache. Since ECG revealed a prolonged QTc, he was transferred to our pediatric emergency center. Occipital spike and slow wave complexes on the electroencephalogram (EEG) suggested the diagnosis of occipital lobe epilepsy. Administration of carbamazepine (190 mg) resulted in the disappearance of the blindness and abnormal waves on EEG. This is the first report to describe the occurrence of prolonged QTc during seizures of occipital lobe epilepsy. Because of the high risk of life-threatening ventricular arrhythmia induced by prolongation of QTc such as torsades de pointes, attention should be paid to the ECG findings in patients with occipital lobe epilepsy.
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PMID:[A boy with occipital lobe epilepsy showing prolonged QTc in the ictal ECG]. 1244 Jan 2

Post-infectious acute glomerulonephritis with hypertensive encephalopathy is characterized by episodic hypertension with headache, vomiting, and hematuria. The association between hypertensive encephalopathy and cortical blindness in children with acute glomerulonephritis is extremely rare. We report the case of a 10-year-old boy with acute glomerulonephritis who presented with gross hematuria, headache, vomiting, and oliguria, and developed transient cortical blindness as a complication of hypertensive encephalopathy. No occurrence of seizure was observed during the clinical course. T2-weighted cranial magnetic resonance imaging showed a high-intensity signal over cortical and subcortical areas of bilateral occipital regions. His vision recovered fully, 2 days after receiving antihypertensive therapy. The patient was well without complaint at 1-year follow-up. This case highlights the possibility that cortical blindness may develop as a complication of acute glomerulonephritis in children. Prevention of the occurrence of neurological deficits in children with acute glomerulonephritis and hypertensive encephalopathy requires careful evaluation and appropriate management of hypertension.
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PMID:Cortical blindness in a boy with acute glomerulonephritis. 1268 14

Alcohol intoxication is the principal drug addiction in many countries of the world. It affects all age groups, both sexes and almost all social groups. Mortality associated with acute alcohol poisoning on its own is exceptional, but it can be an important factor if it coexists with recreational drugs. It is directly responsible for more than half of traffic accidents. Diagnosis is easy by means of anamnesis and clinical examination, and can be confirmed by determining the level of ethanol in the bloodstream. Supportive care is the best therapy in order to protect the patient from secondary complications. Methanol, or alcohol fuel, is used as a solvent, and can also be found as an adulterant of alcoholic drinks. Poisoning by oral means is the most frequent. Oxidized in the liver through dehydrogenase enzyme alcohol, toxicity is due to its metabolites, formaldehyde and formic acid. The clinical picture basically consists of cephalea, nausea, vomiting, hypotension and depression of the central nervous system. The optic nerve is especially sensitive, with total and irreversible blindness as a possible result. Ethylenglicol is used as a solvent and as an antifreeze; toxicity is due to an accumulation of its metabolites. The clinical picture includes symptoms that are held in common with methylalcohol intoxication. Kidney failure due to tubular necrosis and the deposit of oxalate crystals can occur.
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PMID:[Alcohol intoxication]. 1281 81

A 14-year-old girl developed fever, severe headache, vomiting, and no light perception in both eyes over a 3-day period without a previous complaint of visual or other neurologic difficulties. Neuro-ophthalmologic examination was normal apart from meningismus and blindness. Brain imaging showed ventriculomegaly and multiple enhancing nodules around the optic chiasm. Lumbar puncture showed an elevated opening pressure with lymphocytic pleocytosis. Polymerase chain reaction and enzyme-linked immunoabsorbent antibody tests on the cerebrospinal fluid were positive for Mycobacterium tuberculosis. There was no evidence of tuberculosis elsewhere in the body. Standard antituberculous treatment, including corticosteroids, did not reverse the blindness.
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PMID:Irreversible blindness due to multiple tuberculomas in the suprasellar cistern. 1450 94

Metformin belongs to a class of drugs known as the biguanides that are widely used in the treatment of type 2 diabetes mellitus. Its association with lactic acidosis is well established, although rare. Metformin-associated lactic acidosis is recognized as a potentially lethal condition that can occur in patients with contraindications to the drug, such as renal dysfunction, liver diseases, alcoholism, and cardiopulmonary diseases. In these cases, the plasma concentration of metformin is not necessarily abnormally high. We describe a 75-year-old diabetic woman with acute renal failure and life-threatening lactic acidosis due to metformin intoxication. Clinical manifestations included vomiting, diarrhea, hypothermia, hypotension and transitory blindness. Her initial renal function was recovered after hemodialysis and she was discharged 3 months after admission.
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PMID:Metformin-associated lactic acidosis and acute renal failure in a type 2 diabetic patient. 1460 17

Increased intracranial pressure in patients with Lyme disease is an uncommon but reported finding. We discuss 2 patients from Lyme endemic areas who initially presented with headache, nausea, and vomiting and were eventually found to have increased intracranial pressure, a mild cerebrospinal fluid pleocytosis, and positive Lyme titers. It has been shown that increased intracranial pressure in association with neuroborreliosis can lead to blindness. In endemic areas, it is important for practitioners to consider Lyme disease when patients present with persistent headache, especially in those who have evidence of increased intracranial pressure.
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PMID:Lyme disease presenting with persistent headache. 1465 49


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