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)

We report here a case of 18 year old male with tremors of hands, deafness, tendency to fall while walking, drowsiness and double vision of total duration 1(1/2) years. He had internuclear ophthalmoplegia, broken saccades, hypertonia and hyperreflexia of all four limbs, intention tremors, signs of gait and limb ataxia. Pupillary reactions and fundus examination were normal and signs of meningeal irritation or sensory neurological deficit were absent. MRI head and cervical spine with gadolinium enhancement revealed demyelination as evident from multiple oblong foci isointense on T1-weighted images and hyperintense on T2-weighted and fluid attenuated inversion recovery sequences in corpus callosum, sub-cortical white matter, right thalamus, pons and periaqueductal region of midbrain. Ill-defined linear hyperintense signals were observed in cervical spinal cord. No skeletal abnormality was noted in the skull or cervical spine. Oligoclonal bands were present in the cerebrospinal fluid. Brainstem auditory evoked potentials were abnormal, although visual evoked potentials were in normal range. A diagnosis of primary progressive multiple sclerosis (PPMS) was made fulfilling the revised criteria as laid down. In view of its presentation, it is a unique case of PPMS from India.
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PMID:Ataxia and deafness in a young male: an unusual aetiology. 1711 54

We report a case of bilateral ocular deviation due to droperidol-induced acute dystonia that was initially undiagnosed. A 22-year-old, 72 kg, parturient at 42 weeks' gestation underwent emergency cesarean section for pregnancy-induced hypertension under combined spinal-epidural analgesia. The epidural catheter was inserted through the T11-12 interspace, followed by intrathecal hyperbaric bupivacaine with adjunctive fentanyl. The patient complained of nausea shortly after delivery, which subsided with intravenous droperidol 1.25 mg and metoclopramide 10 mg. After surgery, epidural infusion with a mixture of ropivacaine, fentanyl, and droperidol was started. Around 25 hours postoperatively, both of the patient's eyes rotated upwards, although she was fully conscious. Brain CT/MRI did not show any abnormalities. An ophthalmologist and a neurosurgeon were consulted but there was no definitive diagnosis. On subsequent consultation with anesthesiologists, it was assumed that the symptom was related to external ophthalmoplegia secondary to spinal anesthesia. Thereafter, a "wait and see" approach was adopted. After 8 hours, she gradually developed torticollis and increased muscle tone of the lower extremities, which facilitated a diagnosis based on extrapyramidal signs. Epidural infusion was discontinued without further treatment. Her symptoms completely disappeared within 5 hours. The estimated cumulative dose of intravenous and epidural droperidol was 4.6 mg over 34 hours.
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PMID:[Case of acute dystonia during epidural droperidol infusion to prevent postoperative nausea and vomiting]. 2016 68

The objective is to describe the clinical phenotype and genetic basis of a family with autosomal dominant progressive external ophthalmoplegia and parkinsonism with a Twinkle mutation. The proband, an 82 years old female, reported since childhood bilateral eyelid ptosis, ophthalmoplegia, sensorineural hypoacusis, mild depression since she was 45, with a positive familiar anamnesis of eyelid ptosis (father, two sisters and a son). She developed mild bilateral parkinsonism with a moderate clinical response to levodopa. The (123)I-FP-CIT SCAN evidenced a marked bilateral putaminal reduction and moderate caudate uptake reduction. Her 79 years old sister reported eyelid ptosis since she was 45 with ophthalmoplegia and developed a mild bilateral rest and postural tremor with moderate right arm plastic hypertonia when she was 76. The parkinsonism was confirmed with (123)I-FP-CIT SCAN. One of the two sons presented eyelid ptosis since he was 30 years old, with peripheral neuropathy with biopsy evidence of myopathy. We identified a G1750A mutation in the c10orf2 gene in the three patients. Mitochondrial dysfunction has been implicated in the pathogenesis of sporadic, idiopathic Parkinson disease (PD). In some cases, mitochondrial DNA primary genetic abnormalities or more commonly secondary rearrangements due to polymerase gamma (POLG) gene mutation can directly cause parkinsonism. Parkinsonism has been reported as a rare symptom associated to Twinkle (c10orf2). Parkinsonism has to be investigated in patients with PEO with analysis of Twinkle mutation.
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PMID:Twinkle mutation in an Italian family with external progressive ophthalmoplegia and parkinsonism: a case report and an update on the state of art. 2407 37