cataract/癲癇性発作

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

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

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

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

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

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 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

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

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

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