Page 1 of 8: Library: Special Diseases

drkbravva · Credits: 24006 My Scrapbook My Reading List 1 Books

WHAT IS Lafora disease

drkbravva · Credits: 24006 My Scrapbook My Reading List 1 Books

Lafora's disease
Also known as:
Lafora’s myoclonic epilepsy
Lafora’s syndrome
Baltic myoclonus
Unverricht-Lundborg syndrome
Unverricht-Lundborg-Lafora syndrome

Synonyms:
Progressive familial myoclonic epilepsy, progressive myoclonus epilepsy with Lafora bodies.

Associated persons:
Gonzalo Rodriguez Lafora

Herman Bernhard Lundborg

Heinrich Unverricht

Description:
A familial progressive autosomal recessive form of epilepsy beginning in childhood and characterized by convulsions, myoclonic jerking, abnormal EEG, resulting in difficulties in voluntary movement and mental deterioration leading to dementia. Onset usually in childhood between 6 and 19 years of age. Symptoms commonly peak at about the age of 15 years. Lafora’s bodies are present in the nervous system, and sometimes in the retina, heart, muscle, and liver. Average time of survival six years. Inheritance is autosomal recessive.It is a clinico-pathologic form of Unverricht’s disease.

----refb from---whonamedit.

manpreet108 · Credits: 30662 My Scrapbook

where do u get all these fancy names ?
have they really been asked in some exams?

draditithegreat · Credits: 1247950 My Scrapbook

yup manpreet!! 1 question is there...
where do u find lafora body......
or vice versa! imp one indeed!
they give option like niemann pick,...i ll post that list soon...

drkbravva · Credits: 24006 My Scrapbook My Reading List 1 Books

ya ,all these are the terms which use to break my head to think a lot about them,while i was solving MCQ'S from AIIMS ,all-india,Rxpg Mock.....etc.

so i thougt of discussing these pages with u all my pals....

so that atleast we will some thing of these rare pages , which are used as an OPTIONS IN the AIIMS ,aii-india,etc.....

TX for U'ER REPLY & QUERRY

ALL ARE INVITED TO POST NEW SUCH TERMS WHEN U CAME ACROSS SUCH pages WHILE SOLVING MCQ'S--STATE/ AIIMS /ALL-INDIA/DNB /MAHE /PGI/JIPMER /BHU /AFMC /CMC/UPSC /.....ETC.....

TX

drkbravva · Credits: 24006 My Scrapbook My Reading List 1 Books

pls.some explain what is cor-triatrium *(with imp. which are frquently asked in the pg-exams)

Tx.

drkbravva · Credits: 24006 My Scrapbook My Reading List 1 Books

Cor Triatriatum

Synonyms and related keywords: subdivided left atrium, cor triatriatum sinister, cor triatriatum dexter

Cor triatriatum is a rare congenital cardiac anomaly with no known associated genetic abnormalities. The term cor triatriatum was first used by Borst in 1905, and the first surgical repair was performed by Vineberg in 1956.

In its most common form, the left atrium is divided into a proximal and distal chamber separated by a diaphragm with 1 or more restrictive ostia. The pulmonary veins enter the proximal chamber. The atrial appendage invariably is distal to the membrane.

Two rarer forms of cor triatriatum have been reported: a tubular type, also called cor triatriatum sinister, and one called hourglass, describing the shape it provides the chamber. An embryologically different membrane rarely divides the right atrium, so-called cor triatriatum dexter.

The natural history of the defect is dependent on the size of the ostia. If small, the infants are critically ill and die at a young age. If the connection is larger, patients present in childhood or young adulthood with a clinical picture similar to mitral stenosis.

Most patients present in the first few years of life. However, some remain asymptomatic until the second or third decade. The defect also has been reported in elderly individuals.
Cor triatriatum could be considered supravalvular mitral stenosis. It presents similarly, with signs of pulmonary venous obstruction predominating

Causes:

No known risk factors or genetic abnormalities are associated with cor triatriatum.
Embryologically, cor triatriatum is likely a result of stenosis of the common pulmonary vein. The common pulmonary vein is not incorporated normally into the left atrium, producing the proximal chamber.
A left superior vena cava is frequently observed with this lesion. This leads to the possibility that impingement of the left superior vena cava on the developing left atrium is a potential pathogenesis

Surgical correction
Open correction is currently preferred.
The procedure is performed while the patient is on cardiopulmonary bypass through an atrial incision, with resection of the diaphragm

The medical management of cor triatriatum is targeted towards the associated elevation in pulmonary vascular resistance and heart failure. It is continued in the postoperative period until resistance falls and right ventricular performance improves. The mainstays of treatment are inotropic agents and diuretics

reference---emedicine.....internet

BRAVO · Credits: 45320 My Scrapbook

drkbravva please oblige me by mentining only the important points of each syndrome as it is difficult to remember all the details of individual syndromes.

I also appreciate ur efforts by sending pneumonics on the other group.

thanks a lot!!!

drkbravva · Credits: 24006 My Scrapbook My Reading List 1 Books

YA, SURE ,I WILL TRY MENTIONING ONLY IMP ,PTS...

Tx for the reply

all can ask sp.diseases in this post.-

all are wellcome.,....

manpreet108 · Credits: 30662 My Scrapbook

what is weils disease?

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