2. Adie syndrome, sometimes known as Holmes-Adie's syndrome or Adie's Tonic Pupil, is a neurological disorder which affects the pupil of the eye and the autonomic nervous system. It is caused by damage to the postganglionic fibers of the parasympathetic innervation of the eye, usually by a viral or bacterial infection which causes inflammation, and characterized by a tonically dilated pupil. Adie syndrome presents with three hallmark symptoms, namely abnormal pupil size, loss of deep tendon reflexes and diaphoresis. Other signs may include hyperopia due to accommodative paresis, photophobia and difficulty reading.
3. Aicardi syndrome is partial or complete agenesis of corpus callosum - infantile spasms - mental retardation - lacunae of the retina; occurs only in females (see the comment below); likely X-linked dominant with lethality in males; described in 1965.
4. Alexander’s disease is leukodystrophy-like neurodegenerative disease presenting in infancy or childhood; characterized by Rosenthal fibers.
5. Alexander’s law is peripheral vestibular nystagmus increases in intensity when the gaze is in the direction of the fast phase - and decreases in intensity when the gaze is away from the fast phase.
6. Allen’s sign is in pulmonary embolism - fever - tachycardia - and tachypnea - present in only 23% of cases.
7. Amadori product is products of early non enzymatic glycoslyation of proteins.
8. Apley grind test is for meniscal tears - flex patient’s leg to 90 degrees - then grind the tibial condyles against the femoral condyles with rotation motion in the varus and then valgus positions.
9. Archibald’s sign is in pseudohypoparathyroidism of Albert’s hereditary osteodystrophy - characteristic shortening of the fourth and fifth digits as dimpling over the knuckles of a clenched fist.
10. ASPEN syndrome is Association of Sickle cell disease - Priapism (usually major) - Exchange transfusion - Neurological events including headache - lethargy - and seizures; may be due to abrupt cerebral hypoxemia from too-rapid exchange or release of vasoactive cytokines released from penile blood vessels; described in J Urol. 1993; 150:1480-1482.
11. Auenbrugger’s sign is epigastric bulge due to a massive pericardial effusion.
12. Auerbach’s plexus is myenteric plexus - between the longitudinal and circular layers of muscle; provides motor innervation to the two muscle layers and secretomotor innervation to the mucosa.
13. Austrian triad is clinical triad of pneumococcal pneumonia - meningitis - and endocarditis (classically aortic valve endocarditis associated with aortic regurgitation); described by Robert Austrian.
I realize this is only an overview, but Aicardi Syndrome - while X-linked dominant - CAN occur in males, who also have Klinefelter's. Obviously extremely rare - but "occurs only in females" is not quite correct.
ReplyDeleteThanks daniel for that good information.
ReplyDelete"The only three known males with a confirmed diagnosis of Aicardi syndrome have a 47,XXY karyotype [Hopkins et al 1979, Aicardi 1999]. "
Reference : http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=aic
Since it's one of the rare instances, and because of lethality in normal genotype males, usually it's taken as to 'occur in females'.
Anyway as you said, strictly speaking it's incorrect to say 'occurs only in females'.