Page 1 of 1: riley day syndrome!!

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what is riley day syndrome?

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Riley-Day syndrome is an inherited disorder that affects the function of nerves throughout the body.

Inherited as Autosomal recessive trait. The disease is caused by mutation of the IKBKAP gene on chromosome 9.

Common in people of European Jewish origin (Ashkenazi Jew)

One of the hallmark of Riley-Day syndrome is insensitivity to pain. This leads to unnoticed injuries

Infants with this condition have -

1. Feeding problems
2. Pneumonia
3. Vomiting and sweating spells
4. Breath holding spells - leading to unconsciousness
5. Seizures
6. Difficulty in maintaining Temp
7. BP labilitypoor coordination - unsteady gait
8. Unusually smooth tongue surface
9. decreased taste
10. diarrhea/constipation
11. severe scoliosis
12. skin blotching

Diagnosis

Absent or decreased deep tendon reflexes
Absence of overflow tears with emotional crying
Tiny pupils after administering methacholine or pilocarpine into the eye
Decreased deep tendon reflexes

Urinary VMA - decreased

Treatment

protection from injury
treatment of aspiration pneumonia
anticonvulsant therapy if seizures are present
liquid tears and bethanechol to prevent drying of eyes
anti-emetics may be used to control vomiting
postural hypotension (low blood pressure when standing) can be managed with increased fluid and salt intake, caffeine, and waist-high elastic stockings

Prognosis

A newborn with Riley-Day has a 50% chance of reaching age 30.

BRAVO · Credits: 45704 My Scrapbook

thanks man!!!

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geat

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what is fichser syndrome

drdeepakchirag · Credits: 334 My Scrapbook

Fischer's syndrome (Louis Fischer)

Also known as:
Fischer’s sign
Smith-Fischer bronchial gland tuberculosis

Associated persons:
Louis Fischer
Eustace Smith

Description:
An auscultatory diagnosis in tuberculosis of the bronchial glands in children. Persistent high raling caused by pressure on vena brachiocephalica from the lymphatic glands when the manibrium sterni is auscultated with the head tilted backward.

sarfaraz · Credits: 213 My Scrapbook

riley day syn
pts hav reduced pain sensitivity, hyperhidrosis, areflexia
absent fungiform papilla on tongue

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