Gene/Protein Disease Symptom Drug Enzyme Compound
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 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In a 7-year-old boy, ichthyosis vulgaris was treated with a 10% ointment for application over a large area of the body surface. In this way, the child received 400 g salicylic acid (0.6 g/kg body weight per day) percutaneously over a period of 4 weeks. The patient was referred to hospital by the family doctor: he was in a deep somnolent state, apparently caused by hyperventilation following wheezing, vomiting, tinnitus and vertigo. Salicylate intoxication was suspected because of metabolic acidosis, an anion gap and respiratory overcompensation. The diagnosis was confirmed by a serum salicylate level of 985 micrograms/ml (therapeutic level 150-300 micrograms/ml). Following forced diuresis and alkalization with sodium bicarbonate, haemodialysis was unnecessary. As the salicylate level declined to values within the therapeutic range, the patient started to recover consciousness, waking on the 4th day. By day 6 there were still obvious neurological deficiencies. Fecal incontinence, bilateral ptosis and intermittent diverging strabismus on the right persisted for some weeks. It was 6 months before complete neurological resolution was achieved. The pathogenesis of salicylate toxicity and the need for safer therapies for ichthyosis vulgaris are discussed.
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PMID:[Life threatening salicylate poisoning caused by percutaneous absorption in severe ichthyosis vulgaris]. 896 5

A 15-year-old man was admitted because of diplopia and bilateral ptosis which occurred a few days after initial clinical signs, such as fever up, nausea, vomiting and headache. His pupils were anisocoric (Rt. phi 3.5 mm < Lt. phi 6.0 mm). In his left eye, light reflex was absent and its movements were limited in all directions. Brain MRI revealed the findings of paranasal sinusitis in bilateral ethmoidal and sphenoidal sinuses and swelling of bilateral cavernous sinus. Combination of intravenous antibiotic therapy and drainage improved his clinical symptoms and MRI findings. It was diagnosed as the inflammation originated in the sphenoid and ethmoid sinuses, which extended to the cavernous sinus and then involved III, IV, and VI cranial nerves. In conclusion, MRI was very useful to detect the cavernous sinusitis secondary to sphenoidal sinusitis.
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PMID:[A case of paranasal sinusitis-cavernous sinusitis with ophthalmoplegia externa]. 899 45

A 31-year-old woman had left-sided miosis, ptosis, and hypopigmented iris probably since birth. At 22, she developed intermittent headaches, always in the left frontotemporal region. These headaches lasted from 1 to 2 days and recurred every 1-2 months. Pain attacks were pressing-pulsatile in character, moderate in intensity, and frequently accompanied by nausea, vomiting, and moderate phono- and photophobia. Various treatment alternatives, such as conventional analgesics and ergotamine failed to improve the attacks. Pizotifen was partially effective. The results of pupillometry and evaporimetry studies were consistent with a 3rd neuron sympathetic hypofunction on the symptomatic side. Autonomic studies and clinical features were consistent with a congenital Horner's syndrome. Conceivably, a sympathetic hypofunction may play a role in the pathogenesis of such headache or in its lateralization. Indomethacin and sumatriptan both seemed to provide absolute pain relief. Some clinical features, the fact that the IHS criteria for migraine are fulfilled and that sumatriptan is efficient, demonstrate the similarity to migraine. The coexistence of strict unilaterality of pain and the probable, complete response to indomethacin indicate a similarity to hemicrania continua in its remitting form. Further information on the effect of sumatriptan in hemicrania continua will help clarify the position of this case vs. hemicrania continua. At this stage, it is probably not possible to classify this case properly.
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PMID:Congenital (?) Horners syndrome and ipsilateral headache. 921 66

We report a 56-year old female with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), presenting with protein-losing gastroenteropathy and serum copper deficiency. There was no neuromuscular disease in her family members. Three years prior to admission, she developed severe gastrointestinal symptoms including diarrhea, nausea, vomiting and ascites, and was diagnosed as having protein-losing gastroenteropathy based on alpha(1)-antitrypsin clearance and other tests. She was referred to our department when neurological symptoms were apparent. Neurological examinations revealed bilateral ptosis, ophthalmoplegia, hearing loss, facial and limb muscle weakness, mild sensory deficit of vibration on her feet and hypoactive deep tendon reflexes. Pigmentary retinopathy, cerebellar ataxia and heart block were not seen. Serum copper level was decreased to 45 micrograms/dl (normal: 83-155). Chronic intestinal pseudo-obstruction was proven by X-ray studies, and diffuse leukoencephalopathy demonstrated on brain MRI. On EMG, motor nerve conduction velocities were prolonged with temporal dispersion. Her muscle biopsy from biceps brachii muscle showed both neuropathic and myopathic changes, scattered ragged-red fibers and focal cytochrome c oxidase deficiency. Southern blot and polymerase chain reaction analysis on mitochondrial DNA showed no deletions nor point mutations. The clinical and pathologic findings of the present patient fulfilled the diagnostic criteria of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) proposed by Hirano et al. There are few reported patients with MNGIE in Japan, but none presented with protein-losing gastroenteropathy and serum copper deficiency. Since the copper is a cofactor of cytochrome c oxidase, decreased serum copper level may aggravate the respiratory chain enzyme metabolism in mitochondria. Therefore, treatment for gastrointestinal tract disturbance and copper administration may be necessary to prevent disease progression.
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PMID:[Mitochondrial neurogastrointestinal encephalomyopathy presenting with protein-losing gastroenteropathy and serum copper deficiency: a case report]. 949 Sep 4

A 14-year-old girl with the mitochondrial neurogastrointestinal encephalopathy syndrome had an 8-year history of intestinal pseudoobstruction with abdominal pain, persistent vomiting, gastric and duodenal dilatation, and duodenal diverticulosis. The child appeared chronically malnourished and had severe growth failure. Multisystem involvement was evident with the presence of ptosis, external ophthalmoplegia, muscle wasting, peripheral neuropathy, and diffuse white matter disease seen on magnetic resonance imaging. Lactic acidosis and increased cerebrospinal fluid protein were observed. Mitochondrial enzyme analysis of fresh-frozen skeletal muscle revealed a respiratory chain defect. Molecular genetic studies showed multiple mitochondrial DNA deletions. Pathologic findings in the intestine included atrophy of the external layer of the muscularis propria and an increased number of abnormal-appearing mitochondria in ganglion and smooth-muscle cells. Microvesicular steatosis was observed in liver, skeletal, and gastrointestinal smooth muscle, and Schwann cells of peripheral nerve. Brightly eosinophilic inclusions in the cytoplasm of gastrointestinal ganglion cells were visible by light microscopy, which were confirmed to be megamitochondria by ultrastructural studies. This is the first report of abnormal mitochondria observed in intestinal ganglion and smooth-muscle cells in this syndrome.
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PMID:Mitochondrial neurogastrointestinal encephalomyopathy: diagnosis by rectal biopsy. 973 48

Three women, aged 54, 69 and 73 years, respectively, developed diplopia together with ptosis of an upper eyelid during light exercise or fatigue or continuous; in one patient the diplopia was followed by headache and vomiting. The diagnoses made were 'intracranial aneurysm', 'myasthenia gravis' and 'temporal arteritis'. Diplopia may be a symptom of a disorder timely diagnosis and treatment of which may prevent serious consequences.
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PMID:[Double vision as a symptom of a serious disorder]. 986 44

A 23-year-old woman was admitted with headache, nausea, vomiting and blurred vision on the left side. Neurological examination showed ptosis with a complete internal and external ophthalmoplegia and a red fullness around the left orbita. Computed tomographic scanning of the brain revealed no abnormalities. As she improved on high doses of steroids a diagnosis of Tolosa-Hunt syndrome (THS) seemed to be indicated. However, magnetic resonance imaging (MRI) showed a lesion with intermediate signal intensity in the left cavernous sinus. Craniotomy was performed when symptoms of THS recurred. Histopathological examination revealed a meningioma with a papillary aspect and some mitoses. This case illustrates that: (1) THS is still a diagnosis by exclusion; (2) MRI and histopathological examination are important if there is any doubt about the diagnosis; and (3) also when there is no doubt, improvement after steroid therapy may be a diagnostic pitfall. Therefore, not only MRI but also orbital phlebography and angiography should seriously be considered.
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PMID:Meningioma presenting as Tolosa-Hunt syndrome. 1035 Jan 98

OBJECTIVE AND IMPORTANCE: Intracranial neurenteric cyst is an exceedingly rare, congenital, benign, space-occupying lesion, and only a few reports of intracranial neurenteric cysts have been documented. We report a case of parasellar neurenteric cyst, a site not previously reported in the literature. A further rarity was the presence of smooth muscle as part of the cyst wall. This feature provides support for an endodermal origin of the cyst. CLINICAL PRESENTATION: A 27-year-old man presented with recurrent episodes of headache, vomiting, and left ptosis. Magnetic resonance imaging disclosed a cystic lesion in the parasellar region. INTERVENTION: A well-circumscribed cystic lesion was resected through a left frontotemporal craniotomy. At follow-up examination, persistent cranial nerve deficits were present. CONCLUSION: Hitherto unreported, a parasellar location of a well-encapsulated neurenteric cyst is described. The presence of a subepithelial smooth muscle layer, reminiscent of bronchiolar/intestinal muscularis mucosa, provides strong evidence for an endodermal origin of this cystic lesion.
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PMID:Parasellar neurenteric cyst: unusual site and histology: case report 1037 36

Preparturient hypocalcemia was identified in 4 cats in a specific pathogen-free colony between 1995 and 1996. All cats had an acute onset of clinical signs, 3 to 17 days prior to parturition. Signs of depression, weakness, tachypnea, and mild muscle tremors were the most common clinical signs, following by vomiting and anorexia. Additional abnormalities included hypothermia, third eyelid prolapse, dehydration, pallor, lethargy, flaccid paralysis, and hyperexcitability. Hematologic abnormalities included leukocytosis with neutrophilia and lymphopenia. Hypocalcemia was documented in each queen. Common serum biochemical abnormalities included high aspartate aminotransferase and creatine kinase activities. All cats responded to IV or SC administration of 10% calcium gluconate. Queens were then given calcium orally prior to and following parturition. The queens did not have additional complications for the duration of the gestational or lactational periods.
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PMID:Preparturient hypocalcemia in four cats. 1053 Mar 27

A 40-year-old normotensive man suddenly developed diplopia, tinnitus and a burning sensation on the left side of his body while driving a motorcycle. He did not complain of headache, nausea or vomiting. Neurologic examination revealed left trochlear nerve palsy and impaired pinprick, temperature and joint position sensation of the left limbs. There was no ptosis or motor deficit. He had a mild bleeding diathesis due to alcoholic liver cirrhosis. Computerized tomography and magnetic resonance image of the brain disclosed hemorrhages in the right midbrain tectum and the left temporal lobe. After nine months of observation, there was nearly complete recovery of symptoms, except for mild residual diplopia. From a literature review, only nine case of midbrain tectal hemorrhage involving the inferior colliculus have been reported. These patients had a unique clinical presentation. Diplopia due to trochlear nerve palsy, either unilateral or bilateral, was present in all of the cases. Tinnitus and sensory disturbance contralateral to the lesion side were very common. Only three patients had risk factors for hemorrhage, including bleeding diathesis, hypertension and vascular anomalies. In the majority of patients, no underlying causes were detected. The outcome was favorable with conservative treatment.
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PMID:Midbrain hemorrhage presenting with trochlear nerve palsy. 1067 25


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