Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two adolescent boys with Kearns-Sayre syndrome (progressive external ophthalmoplegia, heart block, elevated CSF protein, and ragged-red muscle fibers) developed lethargy, increasing somnolence, polydipsia, polyphagia, and polyuria after a brief course of steroid therapy. Both had hyperglycemia and acidosis. Nonketotic, lactic acidosis was present in one and ketosis in the other. Severe respiratory failure developed, and both patients died. Postmortem revealed fatty infiltration of the pancreas in addition to a diffuse spongiform encephalopathy.
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PMID:Fatal metabolic acidosis, hyperglycemia, and coma after steroid therapy for Kearns-Sayre syndrome. 370 1

Whipple disease is a relapsing systemic illness caused by Tropheryma whippelii. Central nervous system involvement occurs in 5%-40% of all patients. Hypothalamic manifestations occur in 31% of Whipple encephalopathy, including polydipsia, hyperphagia, change in libido and insomnia. We report a case of a 48-year-old man with severe insomnia, depression, dementia, dysarthria, myoclonic movements of the limbs and ophthalmoplegia. The diagnosis of Whipple encephalopathy was confirmed by PCR analysis of blood and faeces. He received a full dose of antibiotic treatment. Despite clinical improvement, resolution of the lesions detected in MRI scan of the brain and negative results of the PCR in blood, faeces and cerebrospinal fluid six months later, insomnia persisted and finally subsided after the administration of carbamazepine (600 mg/day). Our case supports the finding that carbamazepine might be useful in the treatment of insomnia associated with Whipple encephalopathy.
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PMID:An unusual case of insomnia associated with Whipple encephalopathy: first case reported from Greece. 1608 32

Pituitary abscess is a rare entity and the correct diagnosis is still difficult before surgery. More than 210 cases have been reported in the medical literature, mostly in the form of isolated case reports. We report two cases of pituitary abscess treated endoscopically and we review the literature. A 30-year-old woman and a 35-year-old man were admitted with a history of pituitary dysfunction. Patient 1 presented with polyuria, polydipsia, amenorrhea, headache, and visual impairment. Magnetic resonance imaging showed a cystic intra- and supra-sellar lesion with ring enhancement after contrast injection. Patient 2 presented with frontal headache, proptosis, painful ophthalmoplegia, visual impairment, and fever. Eight years before the patient had undergone a transphenoidal surgery for Prolactinoma. Magnetic resonance imaging revealed a sellar lesion extending into the cavernous sinus and carotid artery bilaterally. Both patients underwent endoscopic transnasal-transsphenoidal exploration. Intraoperative diagnosis of pituitary abscess was made. The postoperative courses were uneventful. Antibiotic therapy was performed in both cases. Only three cases of endoscopic treatment of pituitary abscess have been reported in the literature. We recommend early management by endoscopic transphenoidal surgery for pituitary abscess: this technique is safe, with minimal blood loss, short operating time, low morbidity, and brief hospital stay.
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PMID:Endoscopic treatment of pituitary abscess: two case reports and literature review. 1789 32

Metastases in the sellar region are rare and are frequently found incidentally or in necropsies. Only 7% are reported to be symptomatic. Diabetes insipidus, anterior pituitary dysfunction, visual field defects, headache/pain and ophthalmoplegia are the most commonly reported symptoms. We present the cases of two male patients with a small-cell lung carcinoma whose first clinical symptoms were due to pituitary metastasis. One case presented with symptoms of cavernous sinus invasion and panhypopituitarism and the other case with diabetes insipidus. Both patients had a rapid progression of their disease despite chemotherapy and died after a few months. Pituitary metastases occur most commonly with breast cancer in women and lung cancer in men. The presence of polyuria and polydipsia in an oncologic patient should alert the physician for diabetes insipidus and, if confirmed, an imaging procedure of the pituitary gland is mandatory. Treatment for these tumors is often multimodal and includes surgery, radiation therapy, chemotherapy and hormone replacement. Although surgical series have not shown any significant survival benefits given by tumor resection, the patient's quality of life may be improved.
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PMID:[Two cases of pituitary metastases as initial presentation form of small cell lung cancer]. 2351 90

The cavernous sinus (CS) is a paired venous sinus that runs along either side of the pituitary gland on the floor of the calvarium. Cavernous sinus syndrome (CSS) refers to deficits in more than one of the cranial nerves III, IV, V, and VI, as they are in close association in this region. The purpose of this study was to identify the presenting complaints, neurologic findings, diagnosis, and outcomes in dogs and cats with confirmed cavernous sinus syndrome (CSS). Medical records between 2002 and 2015 were reviewed. Inclusion criteria were neurologic signs consistent with CSS and advanced imaging and/or post-mortem examination. Thirteen dogs and 2 cats were included. Twelve dogs received advanced imaging. Post-mortem examination was performed on 2 cats and 3 dogs. Dogs were 6 -13 years (mean= 10.8 years) of age and comprised of several different breeds. Both cats were male neutered domestic shorthair, ages 3 and 14 years. Presenting complaints included mydriasis (N=4), behavior changes (N=3), hyporexia (N=3), ptosis (N=2), ataxia (N=2), pain (N=2), weakness (N=2), lethargy (N=2), and one each of epiphora, ocular swelling, polydipsia, seizures, facial muscle atrophy, dysphagia, and head tilt. Neurologic signs included ophthalmoparesis/plegia (N=13), reduced/absent pupillary light response (N= 11), mydriasis (N= 10), reduced/absent corneal sensation (N= 7), ptosis (N= 6), reduced facial sensation (N= 2), and enophthalmos (N=1). Thirteen patients had a mass lesion within the cavernous sinus, 6 of which were confirmed neoplastic via histopathology. Median survival time for the 4 patients treated with radiation therapy was 1035 days (range 150-2280). Median survival for the 4 patients that received medical treatment was 360 days (range 7-1260 days), and for the 5 non-treated patients 14 days (range 0-90 days). In conclusion mydriasis and ophthalmoplegia are common signs of CSS. A mass lesion within the CS is the most common cause. Survival time may be improved with radiation therapy.
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PMID:Cavernous sinus syndrome in dogs and cats: case series (2002-2015). 2991 Oct 23