ABC Medical Center > Diseases > Prader-Willi syndrome

What is prader-willi syndrome?

4 May 2021

It is a genetic condition that produces physical, mental, and behavioral changes, including the feeling of wanting to eat all the time, low muscle tone, reduced mental capacity, and poorly developed sexual organs.

Prader-Willi syndrome is considered to be due to a genetic abnormality on chromosome 15 that hinders the hypothalamus hormonal control functions, causing symptoms in various areas.

Signs and symptoms Prader-Willi syndrome

They usually change when passing from childhood to adulthood.

Babies:

  • Apathy.
  • Reduced sexual organs.
  • Almond-shaped eyes.
  • Low muscle mass and tone.
  • Suction problems.

Childhood and adulthood:

  • Voracious and constant appetite.
  • Short height.
  • Narrow head at the temples.
  • Delayed motor development.
  • Slow mental development
  • Scoliosis.
  • Hypopigmentation (light hair, eyes, and skin).
  • Rapid weight gain.
  • Small hands and feet compared to other children.
  • Myopia and other visual defects.
  • Underdeveloped genitalia.
  • Late or incomplete puberty.
  • Sterility.
  • Little muscle mass and a lot of body fat.
  • Behavioral and speech alterations.
  • Sleep disorders.

Early diagnosis and treatment are essential for people with Prader-Willi syndrome to have a better quality of life.

The main complications that this condition entails are related to hormonal dysfunctions and anxiety about food that cause accelerated weight gain and morbid obesity, which can trigger other types of diseases such as:

  • Lung diseases.
  • Apnea.
  • Gallstones.
  • High cholesterol.
  • Diabetes.
  • High blood pressure.
  • Osteoporosis.
  • Joint problems.
  • Sterility.

Diagnosis and treatment Prader-Willi syndrome

Prader-Willi syndrome is confirmed with a blood test and genetic testing. As the child grows, laboratory studies may reflect signs of morbid obesity, such as high insulin levels, low oxygenation, and glucose intolerance.

There may also be signs of heart failure, knee, and hip problems, as well as hormonal dysfunction.

The treatment to be followed is given based on the symptoms and includes a multidisciplinary team made up of endocrinologists, psychologists, nutritionists, occupational therapists, behavioral specialists, and physiotherapists.

It generally consists of:

  • Physical activity.
  • Weight control.
  • Physiotherapy.
  • Growth hormone.
  • Proper nutrition.
  • Psychotherapy.
  • Hormone replacement therapy
  • Cognitive, behavioral, occupational, and speech therapies.

At the Neurological Center, a select group of highly trained and certified doctors in the various neurological specialties are ready to assist you with the quality and warmth that characterizes us.

Nervous system specialties

  • Neurology
  • Neurosurgery
  • Spine surgery
  • Pediatric neurosurgery
  • Neurophysiology
  • Neuro-rehabilitation
  • Neuro-pathology
  • Interventional neuro-radiology
  • Neuropsychology
  • Neuro-oncology
  • Neuro-otology
  • Epilepsy
  • Neuro-ophthalmology
  • Neuroimaging

Related centers and departments Prader-Willi syndrome

Neurology Center
High Specialty Surgery Center
Radiology and Molecular Imaging
Clinical Laboratory

Fuentes:

  • endocrinologiapediatrica.org
  • stanfordchildrens.org
  • neural.es
  • mayocilinic.org
  • medlineplus.gov
  • medigraphic.com
  • Frascino A, Rocha FR, Sakura IS, et al. Evaluación orofacial de los niños Síndrome Prader-Willi. Rev Odotopediatr Latinoam. 2021;11(2):197-205.
  • Sánchez-Hernández E, Álvarez-Betancourt AE, Soto-Blanquel JL, et al. Síndrome de Prader Willi. Presentación de un caso. Rev Mex Anest. 2017;40(2):120-124.
  • Hernández HRJ, Rodríguez HFJ, Membrila MJ. Síndrome de Prader Willi en un recién nacido con hipotonía muscular. Rev Mex Pediatr. 2011;78(5):199-201.
  • Travieso TA, Menéndez GR, Licourt OD. Caracterización clínico genética del síndrome Prader Willi. Rev Ciencias Médicas. 2014;18(6):974-982.

How can we help you?

    The dissemination of the content of this material is for informational purposes only and does not replace, under any circumstance or condition, a consultation with a specialist doctor, for which the ABC Medical Center is not responsible for the different use that may be given to it. If you require more information related to the subject, we suggest you contact the specialist doctor you trust directly.