Prader-Willi syndrome: Floppy and Hungry
Prader-Willi syndrome (PWS) is a genetic disorder due to loss of function of specific genes. Prader-Willi syndrome occurs because certain paternal genes that should be expressed are not Expressed. These genes are situated on chromosome 15.
Pathogenesis
A set of genes on the maternal chromosome at 15q12 is imprinted (and hence silenced), so the paternal chromosome provides the only functional alleles. When these are lost as a result of a deletion/ defect (in the paternal chromosome) or there is no paternal chromosome because of maternal (uniparental) disomy, the patient develops Prader-Willi syndrome. Read more on Genomic imprinting here https://creativemeddoses.com/topics-list/genomic-imprinting-epigenetic-regulation/
The most involved is gene cluster encoding multiple distinct small nucleolar RNAs (snoRNAs), which are involved in messenger RNA processing. However, it is unknown how a missing SNORD116 cluster could contribute to intellectual disability, behavioral problems, and the physical features of the disorder.
Few people with Prader-Willi syndrome, show the loss of a gene called OCA2, it is associated with unusually fair skin and light-colored hair.
In Prader-Willi syndrome, normal functions of hypothalamus are impaired, which result in problems with hunger, growth, sexual development, body temperature, mood and sleep.
Clinical presentation
In infancy
- Newborns have trouble suckling or swallowing, which leads to failure to thrive.
- Muscle hypotonia causing floppy or ragdoll baby.
- Hypoplastic and undescended testis.
- Abnormal facial features – almond shape eyes
Childhood and adulthood
- Mental retardation
- Hyperphagia and Morbid obesity
- Behavior problems- aggressive behavior, stubborn and rigid attitude.
- Short stature and delayed sexual development
- hypogonadism
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Diagnosis
Diagnosis is based primarily on physical exam, sign and symptoms.
Genetic testing can be done to confirm the diagnosis.
Treatment
It has No cure, but Early diagnosis and treatment can improve the quality of life and reduce complication associated with the disease.
Medical management is done by-
- feeding tube in infancy - because in infancy patients cannot feed themselves.
- Food restriction and exercise –
- Restricted diet and exercise are must to prevent Morbid obesity in Child.
- growth hormone supplementation- improved stature and muscle mass.
- hormone replacement therapy (testosterone for males or estrogen and progesterone for females) to replenish low levels of sex hormones.
- Behavior management and psychological counseling - Setting strict limits on behavior, schedules and access to food and strict supervision of food intake may be required. psychiatrist may help address psychological problems — for example, obsessive-compulsive behaviors, skin picking or a mood disorder.
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Revision for today https://creativemeddoses.com/topics-list/salivary-gland-tumors-and-most-common-types/
Further reading https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4204554/
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