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Prader Willi Syndrome

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1 views

Prader Willi Syndrome

Uploaded by

anasabuhaiba117
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PPTX, PDF, TXT or read online on Scribd
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PRADER WILLI

SYNDROME
Contents
• Epidemiology
• Definition
• Etiology and pathophysiology
• Clinical features
• Diagnosis
• Management
• Complications
• Prognosis
Epidemiology

• Prader-Willi syndrome is rare.


• It’s the most common syndromic form of obesity.
• It should be considered in all infants with hypotonia.
• Occurs equally in males and females.
Definition
• Prader-Willi syndrome is a genetic disorder caused by
microdeletions/uniparental disomy and genetic
imprinting of chromosome 15.
Paternal Chromosome 15 (part

Etiology & Pathophysiology Gene 1


of)

Gene 2 Gene 3

• Microdeletio
Maternal Chromosome 15 (part
of)

n
Paternal Chromosome 15 (part Paternal Chromosome 15 (part er
l
na of) Gene 1 Gene 2 Gene 3
of) of) p at art
p
of e (
n
io om
Gene 1 Gene 2 Gene 3 let os
Gene 1 Gene 2 Gene 3 e
D rom
ch
methylatio
n
Paternal Chromosome 15 (part
Maternal Chromosome 15 (part Maternal Chromosome 15 (part De
let of)
of) of) i
ch on o
ro
m f ma
os Gene 1 Gene 2 Gene 3
Gene 1 Gene 2 Gene 3 Gene 1 Gene 2 Gene 3 om tern
e al

Maternal Chromosome 15 (part


of)

Gene 1 Gene 2 Gene 3


Etiology & Pathophysiology
• Uniparetnal
Disomy Maternal Chromosome 15 Paternal Chromosome 15

Gene 1 Gene 2 Gene 3 Gene 1 Gene 2 Gene 3

Maternal Chromosome 15 Paternal Chromosome 15

Gene 1 Gene 2 Gene 3 Gene 1 Gene 2 Gene 3


Clinical Features – Infancy
Infancy
• Hypotonia
• Hypoplasia (genital)
• Hypopigmentation
Clinical Features – Early Childhood
Early Childhood
• Overweight & obesity
• Increased appetite (hyperphagia)
• Small hands and feet
• Developmental delay
• Short stature (GH deficiency)
• Intellectual disability
Clinical Features – Two phases
Clinical Features – Late Childhood
Late Childhood
• Delayed puberty (hypogonadotropic hypogonadism)
• Premature adrenarche (pubic and axillary hair)
• Behavioral issues
• Scoliosis and other orthopedic problems
• Hyperphagia and obesity becomes more apparent
• Epilepsy?
Clinical Features – Facial
Dysmorphism
Clinical Features – Uniparental
Disomy
• Less physical, behavioral and intellectual problems
• Higher risk to exhibit psychosis and autistic behavior
Complications and Other Issues
• Almost all complications are related to hyperphagia or obesity
• Obesity complications
 Sleep disorders (Includes excessive sleeping, OSA (M/C
complication)
 Type 2 DM
 Atherosclerosis
• Hyperphagia complications
 Chocking
 Gastric Rupture
• Infertility
• Hypothyroidism (central)
Diagnosis
• Suspect PWS in infants presenting with hypotonia,
cryptorchidism and excessive sleeping.
• And in children with hyperphagia, obesity, global
developmental delay and short stature.
• Diagnosis is by two steps:
1. Methylation analysis
2. Mutation identification (using CMA or FISH)
Other Investigations
• DM screening for obese patients
• X-Ray
• GH tests
Prader Willi Angelman
Syndrome Syndrome

Deletion Paternal Maternal

Intellectual Mild to moderate Severe


Disability

Sleep Excessive sleeping Difficulty sleeping

Behavior Temper tantrums Frequent laughing

Epilepsy Up to 25% More than 80%

Dysmorphism Almond shape eyes, Broad mouth, wide-


thin upper lips spaced teeth
Management
• Management focuses on obesity and its
complications
 Calorie restriction and food security
 Pharmacological therapy effectiveness?
 Surgery in extreme obesity

• GH replacement for all children


• Hormone replacement therapy
Prognosis
• Patients have decreased life expectancy (average 30
years).
• If extreme obesity is avoided and managed
appropriately, patients can live to 60s.
• Most common cause of death overall is respiratory
failure related to obesity. The second most common
causes are cardiac issues.
• Chocking is responsible for half of the deaths in children
and adolescents!
Quick Quiz
Which of the following is incorrect regarding PWS?
A. Obesity precedes hyperphagia
B. Patients with uniparental disomy have more severe
intellectual disability
C. It’s caused by microdeletions on chromosome 15
D. Short stature is due to GH deficiency
Quick Quiz
Angelman syndrome Vs PWS, which is false?
A. In Angelman syndrome, intellectual disability is
more severe
B. In PWS there is excessive sleeping, while in
Angelman syndrome there is difficulty sleeping
C. In Angelman syndrome, more than 80% of patients
have seizures
D. The main management in PWS is calorie restriction
E. None of the above
Quick Quiz
Which of the following patterns fits
patients with PWS?
A. A
B. B
C. C
Sources
• UpToDate
• Amboss
• Nelson Essential 9th Edition
• MedStudy 11th Edition
• Wikipedia

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