cataract/seizures

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Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome).

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Cataract is a major cause of severe visual impairment in childhood. The purpose of this study was to determine the genetic cause of syndromic congenital cataract in an Australian mother and son. Fifty-one genes associated with congenital cataract were sequenced in the proband using a custom Ampliseq

Epileptic seizure, cataract, and tongue atrophy during the 8 years after electrical brain injury.

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As a delayed neurologic complication following a high-voltage electrical injury, motor neuron disease-like spinal cord injury has often been reported. However, epileptic seizure as a delayed complication of electrical brain injury has not been reported. We report a 32-year-old man, who developed

11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report.

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WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral

Convulsions during cataract surgery under peribulbar anesthesia: a case report.

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BACKGROUND Locoregional anesthesia techniques are increasingly used for cataract surgery. From these techniques, peribulbar anesthesia has been very successful over the retrobulbar anesthesia seen its effectiveness and safety. However, peribulbar anesthesia is not without risk. METHODS A 70-year-old

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.

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Transcription factors operate in developmental processes to mediate inductive events and cell competence, and perturbation of their function or regulation can dramatically affect morphogenesis, organogenesis, and growth. We report that a narrow spectrum of amino-acid substitutions within the

Persistent tachycardia, paroxymal hypertension, and seizures: association with hyperglycinuria, dominantly inherited microphthalmia, and cataracts.

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[Apropos of the Marinesco-Sjogren syndrome. Association of the triad: cataract, cerebellar syndrome and oligophrenia, with an extrapyramidal syndrome and epileptic seizures].

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Chronic atypical seizure disorder and cataracts due to delayed diagnosis of pseudohypoparathyroidism.

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Anemia, cataracts, and seizures in patient with glucose-6-phosphate dehydrogenase deficiency.

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Identification of a Novel MYH9 Mutation in a Young Adult With Inherited Thrombocytopenia and Recurrent Seizures by Targeted Exome Sequencing.

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May-Hegglin anomaly (MHA) is a rare autosomal dominant disorder caused by a mutation in the myosin heavy chain 9 (MYH9) gene. MHA patients have variable clinical manifestations including thrombocytopenia, renal injury, hearing impairment, and cataracts. We describe a 25-year-old man with isolated

Brachydactyly with extrahepatic biliary atresia, patent ductus arteriosus and seizures--a new syndrome?

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Brachydactyly is a relatively common congenital anomaly and can be associated with many other malformations. However, brachydactyly in association with biliary atresia is rare. We present a male child with strikingly symmetrical brachydactyly and nail hypoplasia, extrahepatic biliary atresia, patent

Bilateral hypocalcemic cataract after total thyroidectomy in a young woman: case report.

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Hypocalcemia is a derangement in serum calcium level due to a vast spectrum of disorders, but the most common cause is surgery, usually thyroid gland surgery. Symptoms of hypocalcemia can be due to increased neuromuscular excitation resulting in tetany, paresthesia or seizure. It can

Respiratory arrest and convulsions after peribulbar anesthesia.

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We present a case in which a rare and serious complication with respiratory arrest and convulsions occurred after peribulbar anesthesia for cataract surgery. To our knowledge, respiratory arrest has been described as a complication only of retrobulbar, not peribulbar, anesthesia. Anesthesiologists

Recurrence of focal seizure activity in an infant during induction of anaesthesia with sevoflurane.

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A three-month-old male infant, previously diagnosed with seizures with a focal origin induced by hypocalcaemia secondary to hypoparathyroidism, presented for right cataract surgery. The hypocalcaemia and seizure activity had resolved with medical therapy, with normal calcium levels and no seizures

[Idiopathic hypoparathyroidism and convulsive seizures].

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In a patient with primary hypoparathyroidism the disease ran for years only generalized convulsions resistant to antiepileptic medication, and was lately complicated by bilateral cataracts. Low serum calcium and elevated serum phosphorus found on occasion of a grand mal status resistant to routine

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