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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
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
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 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