Related articles: Prader-Willi syndrome
Definition
Prader-Willi syndrome is a rare genetic disorder.
The disorders associated with this condition are mainly due to hormonal imbalances, secondary to the dysfunction of the hypothalamus and the pituitary gland.
Prader-Willi syndrome is due to various anomalies in the chromosomal region 15q11-q13 (including deletion, uniparental disomy, mutations of the imprinting center and balanced translocation).
In most cases, these defects occur sporadically; the family transmission of the disease is, however, rare.
Most common symptoms and signs *
- Aggression
- Changes in the menstrual cycle
- asphyxiation
- Asthenia
- Testicular atrophy
- Increased appetite
- Weight gain
- Dry mouth
- Impulsive behavior
- coprophagy
- cryptorchidism
- Depression
- Learning difficulties
- Difficulty concentrating
- Language difficulties
- Skin discoloration
- Dysphagia
- Mood disorders
- Skin erosion
- Hunger
- Insomnia
- insulin Resistance
- Heat intolerance
- hyperkyphosis
- hyperphagia
- Hypertension
- infertility
- weakness
- Dental malocclusion
- Nervousness
- Misaligned eyes
- Osteoporosis
- Penis size reduction
- Growth delay
- Rumination
- Scoliosis
- Cold sensation
- Sense of suffocation
- Wear of teeth
Further indications
Two patients with Prader-Willi syndrome. Note the characteristic appearance of the face: elongated, with a prominent nose, almond-shaped eyes with slight squinting, close distance of the temples, thin upper lip and mouth turned downwards. Image from wikipedia.org
From a clinical point of view, Prader-Willi syndrome is very heterogeneous. Disorders occur from birth, with severe hypotonia that leads to problems with swallowing and breastfeeding, due to reduced sucking reflex. Furthermore, the child suffers from a mild to moderate degree of psychomotor development and is subject to an increased risk of asphyxia.
During early childhood, the child with Prader-Willi syndrome has a constant lack of satiety (hyperphagia), which, if left unchecked, can lead to severe obesity.
Other abnormalities associated with the disease include short stature (due to a growth hormone deficiency), scoliosis, cutaneous hypopigmentation and incomplete pubertal development.
During growth, there are often distinctive features of the face, such as: narrow forehead, almond-shaped eyes, thin upper lip and mouth turned downwards. Very common are also very small hands and feet, strabismus and hypogonadism (cryptorchidism, micropenis, hypoplasia of the labia minora or clitoris, etc.).
Occasional signs of Prader-Willi syndrome are skin-picking (self-induced skin excoriation) and dental problems, such as reduced consistency of tooth enamel, dense and viscous saliva, teeth grinding and rumination.
Prader-Willi syndrome can lead to learning difficulties, abnormal speech development, behavioral disorders and psychiatric problems of varying degrees, similar to those characteristic of the autistic spectrum (eg obsessive-compulsive or manipulative behavior, depression, excess of anger, etc.). ).
In adults, complications related to obesity are the most important problems, however diabetes mellitus, heart failure, hypertension, osteoporosis and breathing difficulties (associated with the presence of hypotonia, weakness of the thoracic cage muscles and sleep apnea) may also occur.
The diagnosis is based on clinical observation and is confirmed by the finding of cytogenetic or molecular anomalies in the analysis of the 15q11-q13 region.
A resolutive therapy of the clinical picture is not available, but the early multidisciplinary intervention and the administration of the growth hormone (GH) can improve the evolution of Prader-Willi syndrome and the quality of life of the patients. THE
Targeted treatments can relate to motor development and eating disorders. In particular, it is recommended that a balanced low-calorie diet be prescribed by a specialist.
