Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030552 (paresis)
 5,831 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a case of sporadic X-linked agammaglobulinemia previously diagnosed as variable immunodeficiency (VID). An 39-year-old male had recurrent episodes of respiratory tract infection since his early childhood. At the age of four, he developed partial paresis of the left limbs after polio immunization. After diagnosis of VID based on marked decrease of serum IgG, IgA and IgM levels and no antibody production against antigenetic stimuli at age 22 years old, he received intravenous immunoglobulin supplementation irregularly. We reexamined him and found marked decrease in B cells in the peripheral blood. In addition, we investigated the expression of Bruton-type tyrosine kinase on monocytes by flow cytometry and confirmed its deficiency. His mother was diagnosed as a carrier of XLA. The patient is probably the oldest case with XLA in Japan.
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PMID:[The oldest case with X-linked agammaglobulinemia in Japan lacking Bruton-type tyrosine kinase protein detected by flow cytometry]. 949 52

A 69-year-old Japanese female was admitted because of progressive nasal voice and dysphagia. Neurological examination revealed paresis of the soft palate with marked dysphagia and rhinolalia. Otherwise there was no weakness or easy fatigability in extraocular muscles and extremities. On laboratory test, anti-acetylcholine receptor antibody (anti-AChR Ab) was positive, while anti-muscle-specific tyrosine kinase antibody (anti-MuSK Ab) was negative. Edrophonium test was positive, resulting in clear improvement in phonation and swallowing. Harvey-Masland test of ocular and extremity muscles did not show any waning. With the diagnosis of bulbar myasthenia gravis, the patient was treated with methylprednisolone and pyridostigmine, resulting in clear improvement of the symptoms. The present case shows that it is important to consider MG even in cases presenting solely with progressive bulbar palsy without easy fatigability. So far, cases of bulbar myasthenia gravis with positive anti-MuSK Ab have often been reported. As shown in the present case, bulbar myasthenia gravis can also be associated with positive anti-ACh-R Ab but negative anti-MuSK Ab.
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PMID:[A case of myasthenia gravis presenting solely with bulbar palsy unassociated with easy fatigability]. 2352 4

A 62-year-old female patient with metastatic renal cell carcinoma under third-line treatment with pazopanib for 8 weeks suddenly developed severe headaches, grand mal seizures and paresis of the left arm in combination with gait instability as well as nausea and vomiting during her vacation abroad. The emergency physician measured systolic blood pressure values over 300 mm Hg and suspected a stroke. The CT imaging without contrast agent in a local hospital did not show any pathologic findings despite bone metastases. The colleagues suspected cerebral metastases or meningeosis carcinomatosa and referred the patient to our department for further diagnostics and treatment planning. An MRI scan ruled out the suspected cerebral metastases or meningeosis carcinomatosa, but showed signs of reversible posterior leukoencephalopathy syndrome (RPLS) in the form of band-like hyperintensities as a sign of cytotoxic edema in the gray and white matter of the left parietal lobe. The patient then reported that similar blood pressure values had been measured shortly after the start of a first-line therapy with sunitinib, so that we discontinued the current treatment with pazopanib. Within 6 days the neurologic symptoms vanished and the patient was discharged. An intermittent hypertension persisted. A follow-up MRI 3 weeks later showed an RPLS-typical cortical infarction in the affected area. RPLS should be considered as the actual reason for neurologic findings in hypertensive patients with known metastatic cancers under tyrosine kinase inhibitor therapy.
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PMID:Posterior reversible leukoencephalopathy syndrome associated with pazopanib. 2362 62

Laryngeal myasthenia gravis is a relatively rare variant of myasthenia gravis. A vast portion of patients with initial laryngeal myasthenia gravis develop involvement of ocular and/or extra-ocular muscles during the years after symptom onset although a minority of laryngeal myasthenia gravis patients continues to have isolated laryngeal muscle involvement for several years. We present a 58-year-old woman with recurrent episodic isolated dysphonia (associated with diffuse bilateral vocal cord paresis on laryngoscopy) since the age of 32. Dysphonia became permanent since 6 months. A diagnosis of laryngeal myasthenia gravis was made based on abnormal single-fiber electromyography and spectacular response to pyridostigmine treatment. Repetitive nerve stimulation was normal and anti-acetylcholine receptor and anti-muscle specific tyrosine kinase antibodies were absent. This case shows that laryngeal myasthenia gravis can be isolated during 26 years of follow-up. We propose that even when myasthenia gravis seems unlikely as underlying mechanism of isolated dysphonia (because of lack of antibodies, normal repetitive nerve stimulation, and absence of extra-laryngeal involvement after years of follow-up), single-fiber electromyography should be performed and myasthenia gravis treatment should be tried.
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PMID:Isolated laryngeal myasthenia gravis for 26 years. 2545 67