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Updated: Dec 24 2021

Prader-Willi Syndrome

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  • Snapshot
    • A 33-year-old woman delivers a baby girl at full-term without complications. During a breastfeeding session, a lactation specialist notes that the neonate has poor muscle tone, poor suck, and a weak cry. Her basic laboratory results are normal. As hypotonia is classically associated with a genetic condition, a geneticist is consulted for further discussion.
  • Introduction
    • Overview
      • Prader-Willi syndrome is a disorder of imprinting associated with mutation or deletion of chromosome 15q11-13
  • Epidemiology
    • Incidence
      • 1 in 16,000-25,000
  • ETIOLOGY
    • Pathogenesis
      • the maternal allele on chromosome 15q11.2-13 is normally methylated or silenced
      • mutation or deletion of the paternal allele then results in complete absence or defective gene expression, leading to Prader-Willi syndrome
    • Genetics
      • inheritance pattern
        • sporadic
      • mutations
        • 25% due to maternal uniparental disomy (2 copies of maternal chromosome 15)
        • majority of cases are due to a mutation or deletion in paternal chromosome 15q11.2-13
          • genes identified include SNRPN, UBE3A, and necdin genes
    • Associated conditions
      • growth hormone deficiency
  • Presentation
    • Symptoms
      • intellectual disability
      • hyperphagia
      • behavioral problems
    • Physical exam
      • neonate and infant
        • hypotonia
        • poor suck
        • failure to thrive
        • weak cry
        • genital hypoplasia
        • cryptorchidism
      • toddlers
        • delayed developmental milestones
      • children
        • obesity
        • small hands and feet
        • short stature
        • strabismus
        • scoliosis
  • Imaging
    • Radiograph
      • indication
        • assess for scoliosis
      • findings
        • curvature of spine
  • Studies
    • Serum labs
      • fasting levels of insulin-like growth factor 1 and insulin-like growth factor binding protein-3
        • screen for underlying growth hormone deficiency
        • confirm with provacative growth hormone stimulation test
    • Genetic testing
      • chromosomal or microarray analysis
      • prenatal testing via chorionic villus sampling or amniocentesis
  • Differential
    • Angelman syndrome
      • key distinguishing factors
        • silenced maternal genomic material at chromosome 15q11.2-13
        • characterized by excessive laughter, hyperexcitability, and hand flapping
  • Treatment
    • Lifestyle
      • behavioral therapy
        • critical for conditioning child to normal eating habits and avoiding hyperphagia
      • diet and exercise
        • often requires coordination between home and school
      • calorie restriction
    • Medical
      • growth hormone
        • indications
          • growth failure
          • growth hormone deficiency
      • hormone-replacement therapy
        • indications
          • delayed puberty
    • Surgical
      • feeding tube
        • indication
          • growth failure in infancy
  • Complications
    • Hypopituitarism with deficiency in growth hormone
    • Scoliosis
    • Obstructive sleep apnea
    • Cor pulmonale
  • Prognosis
    • Patients are typically able to function well into adulthood
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