PENDRED\'S SYNDROME REVISITED
Authors
Abstract:
Pendred's syndrome is defined as a triad of congenital perceptive hearing loss, goiter, and abnormal perchlorate test. Three brothers with Pendred's syndrome [P.S.] are reported. The oldest brother has hearing loss (he has been deaf and mute since childhood) and has a large goiter. A thyroid scan revealed euthyroid multinodular goiter and a perchlorate test was performed, and reported abnormal. His brother had the same manifestations but with less severity and after subtotal thyroidectomy, the pathology report revealed follicular carcinoma. The youngest brother had hearing loss since childhood but a normal sized thyroid. We report three patients and compare the frequency of their symptoms with that reported in the literature.
similar resources
USHER\'S SYNDROME REVISITED
Usher's syndrome is a genetically inherited autosomal recessive disorder resulting in the double handicap of deafness and progressive blindness, known as retinitis pigmentosa. The disease is also associated with psychoses, mental retardation, and other major neurophysiological changes. It appears to be more common among Jewish individuals and consanguinous marriages. While it is rare in th...
full textusher's syndrome revisited
usher's syndrome is a genetically inherited autosomal recessive disorder resulting in the double handicap of deafness and progressive blindness, known as retinitis pigmentosa. the disease is also associated with psychoses, mental retardation, and other major neurophysiological changes. it appears to be more common among jewish individuals and consanguinous marriages. while it is rare in th...
full textpendred's syndrome revisited
pendred's syndrome is defined as a triad of congenital perceptive hearing loss, goiter, and abnormal perchlorate test. three brothers with pendred's syndrome [p.s.] are reported. the oldest brother has hearing loss (he has been deaf and mute since childhood) and has a large goiter. a thyroid scan revealed euthyroid multinodular goiter and a perchlorate test was performed, and reported...
full textPanayiotopoulos Syndrome - Revisited
Paediatric epileptic syndromes are easily identified by the classical seizure semiologies and the electrical signatures of these epilepsies. However some of the less discussed entities can cause diagnostic confusion by their bizarre manifestations. One such scenario is that of a child presenting with ictal vomiting with or without autonomic manifestations. This intriguing epileptic phenomenolog...
full textThe hypereosinophilic syndrome revisited.
Clinical and biological features of patients with the idiopathic hypereosinophilic syndrome (HES) are heterogeneous. Recent evidence suggests at least two distinct underlying hematological disorders involving myeloid and lymphoid cells, respectively. We therefore suggest that the term idiopathic should be abandoned in the classification of HES. This review defines the "myeloproliferative" and "...
full textPseudolymphoma syndrome revisited.
Anticonvulsants have long been recognized as a cause of hypersensitivity reactions. Phenytoin hypersensitivity can be traced to 1916, when phenylethylhydantoin (phenytoin sodium), which was used to treat children with Sydenham chorea, was found to induce a hypersensitivity reaction. Phenytoin was then known as a “nerve sedative,” and the hypersensitivity reaction, “nirvanol sickness,” resolved ...
full textMy Resources
Journal title
volume 2 issue 4
pages 305- 311
publication date 1989-02
By following a journal you will be notified via email when a new issue of this journal is published.
Hosted on Doprax cloud platform doprax.com
copyright © 2015-2023