Diseases » Prader-Willi syndrome » Causes

Causes of Prader-Willi syndrome

Prader-Willi syndrome Causes: Book Excerpts

• Differential Diagnosis - Short Stature
• Differential Diagnosis - Hypotonia
• Differential Diagnosis - Obesity
• Causes and incidence - Hypogonadism
• Causes and incidence - Mental retardation
• Causes and incidence - Obesity
• Differential Overview - Obesity
• Principal Causes of Hypotonia and Weakness - Hypotonia and Weakness
• Principal Causes of Obesity - Obesity
• Mental Retardation - etiology - Mental Retardation
• Obesity - risk factors - Obesity

Related information on causes of Prader-Willi syndrome:

As with all medical conditions, there may be many causal factors. Further relevant information on causes of Prader-Willi syndrome may be found in:

• Genetics of Prader-Willi syndrome
• Hidden causes of Prader-Willi syndrome

Causes of Prader-Willi syndrome: Online Medical Books

16 MEDICAL BOOKS ONLINE! Review excerpts from medical books online, free, without registration, for more information about the causes of Prader-Willi syndrome.

Short Stature: Differential Diagnosis
(In A Page: Pediatric Signs and Symptoms)

• Familial short stature
• Constitutional delay of growth and puberty
• Hypothyroidism
• Growth hormone deficiency (GHD)
• GH resistance (Laron syndrome)
• Congenital hypopituitarism
  –Secondary to brain tumors
• Acquired hypopituitarism
  –After irradiation, surgery, and chemotherapy for neoplasms
  –Infectious
  –Infiltrative
  –Vascular
• Cushing syndrome
• Precocious puberty
  –Tall initially
  –Final height compromised
• Pseudohypoparathyroidism
• Rickets
• Genetic syndromes
  –Turner syndrome
  –Down syndrome
  –Noonan syndrome
  –Prader-Willi syndrome
• Intrauterine growth retardation
  –Silver-Russell syndrome
• Disorders of bone development
  –Achondroplasia/hypochondroplasia
  –Chondrodystrophies
• Psychosocial deprivation
• Malnutrition
• Chronic drug intake
  –Glucocorticoids
  –Methylphenidate
• Infectious
  –HIV
  –Tuberculosis
• Congenital heart disease
• Gastrointestinal
  –Celiac disease
  –Inflammatory bowel disease
  –Chronic liver disease
• Pulmonary
  –Cystic fibrosis
• Chronic renal disease
  –RTA
  –Renal failure
• Skeletal disorders

» READ BOOK EXCERPT ONLINE »

Source: In A Page: Pediatric Signs and Symptoms, 2007

Hypotonia: Differential Diagnosis
(In A Page: Pediatric Signs and Symptoms)

• Benign congenital hypotonia
• Chromosome abnormalities: Trisomy 21, trisomy 13, Prader-Willi, cri-du-chat
• Hypoxic ischemic encephalopathy
• Spinal muscular atrophy (SMA)
• Infantile botulism
• Hypothyroidism
• Spinal cord injury
• Cerebral malformations
• Toxins: Organophosphates, aminoglycosides, antineoplastic agents, chloroquine, glue-sniffing
• Myasthenia gravis
  –Transient neonatal myasthenia
  –Congenital myasthenia
  –Familial infantile myasthenia
• Guillain-Barré syndrome (GBS) or chronic inflammatory demyelinating polyneuropathy (CIDP)
• Muscular dystrophy: Duchenne, Becker, facioscapulohumeral, Fuluyama, merosindeficient congenital muscular dystrophy
• Congenital myotonic dystrophy
• Hereditary motor-sensory neuropathy
• Metachromatic leukodystrophy
• Globoid cell leukodystrophy
• Congenital myopathies: Central core disease, myotubular, nemaline (rod), congenital fiber-type disproportion
• Peroxisomal disorders
  –Neonatal adrenoleukodystrophy, Zellweger
• Hypermagnesimia
• Myositis
• Lipid storage muscular disorders
• Mitochondrial encephalomyopathy
• Pompe disease (glycogen storage disease type II, acid maltase deficiency)
• McArdle disease
• Walker-Warburg syndrome
• Lowe syndrome (oculocerebrorenal)
• Werdnig-Hoffman Disease
• Familial dysautonomia
• Tick paralysis
• Poliomyelitis

» READ BOOK EXCERPT ONLINE »

Source: In A Page: Pediatric Signs and Symptoms, 2007

Obesity: Differential Diagnosis
(In A Page: Pediatric Signs and Symptoms)

• Exogenous obesity (most common)
  –No demonstrable disease as the cause
  –Excessive weight gain from imbalance between caloric intake and energy expenditure
  –Linear growth is robust and frequently accelerated

• Hormonal causes
  –Associated with poor linear growth
  –Hypercortisolism: Cushing syndrome is any type of glucocorticoid excess (endogenous or exogenous); Cushing disease describes pituitary ACTH overproduction
  –Hypothyroidism
  –Growth hormone deficiency

• Insulinoma
• Hypothalamic obesity
  –Tumors (e.g., craniopharyngiomas)
  –Following neurosurgery or irradiation
  –Head trauma
  –Infiltrative/inflammatory
• Genetic syndromes
  –Prader-Willi syndrome
  –Laurence-Moon-Bardet-Biedl syndrome
  –Alström syndrome
  –Cohen syndrome
  –Down syndrome
  –Carpenter syndrome
  –Grebe syndrome
  –Beckwith-Wiedemann syndrome
• Defects in metabolic/eating regulatory pathways is an area of intense investigation; multiple mutations are theoretically possible, but only a few have actually been discovered in humans
  –Congenital leptin deficiency (extremely rare)
  –Leptin resistance (more common than deficiency)
• Drugs
  –Chronic glucocorticoids
  –Neuropsychotropic medications
• Adiposogenital dystrophy syndrome

» READ BOOK EXCERPT ONLINE »

Source: In A Page: Pediatric Signs and Symptoms, 2007

Hypogonadism: Causes and incidence
(Professional Guide to Diseases (Eighth Edition))

Primary hypogonadism results directly from interstitial (Leydig’s cell) cellular or seminiferous tubular damage due to faulty development or mechanical damage. This causes increased secretion of gonadotropins by the pituitary in an attempt to increase the testicular functional state and is therefore termed hypergonadotropic hypogonadism. This form of hypogonadism includes Klinefelter syndrome, Reifenstein’s syndrome, Turner syndrome, Sertoli-cell-only syndrome, anorchism, orchitis, and sequelae of irradiation.

Secondary hypogonadism is due to faulty interaction within the hypothalamic-pituitary axis, resulting in failure to secrete normal levels of gonadotropins, and is therefore termed hypogonadotropic hypogonadism. This form of hypogonadism includes hypopituitarism, isolated follicle-stimulating hormone deficiency, isolated luteinizing hormone deficiency, Kallmann’s syndrome, and Prader-Willi syndrome. Depending on the patient’s age at onset, hypogonadism may cause eunuchism (complete gonadal failure) or eunuchoidism (partial failure).

Medications, such as exogenous testosterone or anabolic steroids, can also cause of hypogonadism, resulting in infertility.

Hypogonadism is rare, and it has no racial predilection.

» READ BOOK EXCERPT ONLINE »

Source: Professional Guide to Diseases (Eighth Edition), 2005

Mental retardation: Causes and incidence
(Professional Guide to Diseases (Eighth Edition))

A specific cause is identifiable in only about 25% of people who are mentally retarded, and, of these, only 10% have the potential for cure. (See Causes of mental retardation.) In the remaining 75%, predisposing factors, such as deficient prenatal or perinatal care, inadequate nutrition, poor social environment, and poor child-rearing practices, contribute significantly to mental retardation.

Prenatal screening for genetic defects (such as Tay-Sachs disease) and counseling for families at risk for specific defects have reduced the incidence of genetically transmitted mental retardation.

An estimated 1% to 3% of the population is mentally retarded, demonstrating an IQ below 70 and associated difficulty in carrying out tasks required for personal independence.

» READ BOOK EXCERPT ONLINE »

Source: Professional Guide to Diseases (Eighth Edition), 2005

Obesity: Causes and incidence
(Professional Guide to Diseases (Eighth Edition))

Obesity results from excessive calorie intake and inadequate expenditure of energy. Theories to explain this condition include hypothalamic dysfunction of hunger and satiety centers, genetic predisposition, abnormal absorption of nutrients, and impaired action of GI and growth hormones and of hormonal regulators such as insulin. An inverse relationship between socioeconomic status and the prevalence of obesity has been documented, especially in women. Obesity in parents increases the probability of obesity in children, from genetic or environmental factors, such as activity levels and learned patterns of eating. Psychological factors, such as stress or emotional eating, may also contribute to obesity. Rates of obesity are climbing, and the percentage of children and adolescents who are obese has doubled in the last 20 years.

» READ BOOK EXCERPT ONLINE »

Source: Professional Guide to Diseases (Eighth Edition), 2005

Obesity: Differential Overview
(Field Guide to Bedside Diagnosis)

❑ Caloric excess

❑ Depression

❑ Drugs

❑ Hypothyroidism

❑ Hypogonadism

❑ Cushing syndrome

❑ Polycystic ovary syndrome

❑ Hypothalamic

❑ Insulinoma

» READ BOOK EXCERPT ONLINE »

Source: Field Guide to Bedside Diagnosis, 2007

Hypotonia and Weakness: Principal Causes of Hypotonia and Weakness
(The Diagnostic Approach to Symptoms and Signs in Pediatrics)

1. Braindisorders
   1. Cerebralmalformations
   2. Chromosomal abnormalities
   3. Hypoxic-ischemic encephalopathy
   4. Hypotonic cerebral palsy
   5. Intracranial infection
   6. Trauma
   7. Metabolic disorders
   8. Neurodegenerative disorders
   9. Nonspecific mental retardation
2. Spinal cord disorders
   1. Trauma
   2. Spinal dysraphism
   3. Neoplasm
3. Anterior horn cell (or cranial motornuclei) disorders
   1. Spinal muscular atrophies
   2. Enteroviral infection
4. Peripheral (or cranial) nerve disorders
   1. Acuteinflammatory demyelinating polyradiculopathy (Guillain-Barré syndrome)
   2. Chronic inflammatory demyelinatingpolyneuropathy
   3. Chronic motor-sensory polyneuropathy
   4. Sensory neuropathies
5. Neuromuscular junction disorders
   1. Myasthenia
      1. Neonataltransient myasthenia gravis
      2. Congenital myasthenic syndromes
      3. Juvenile myasthenia gravis
   2. Botulism
   3. Tick paralysis
6. Muscle disorders
   1. Congenitalmyopathies
      1. Centralcore disease
      2. Nemaline rod myopathy
      3. Myotubular myopathy
      4. Congenital myopathy with fiber-typedisproportion
      5. Other
   2. Metabolic myopathies
      1. Glycogenoses
         1. Glycogenstorage disease II
         2. Glycogen storage disease III
      2. Carnitine deficiency
         1. Medium-chainacyl-CoA dehydrogenase deficiency
         2. Primary carnitine deficiency (carnitinetransporter deficiency)
         3. Muscle carnitine deficiency
   3. Respiratory chain disorders
      1. Periodicparalysis
      2. Endocrine myopathies
   4. Dystrophies
      1. Congenital muscular dystrophy
      2. Duchenne muscular dystrophy
      3. Becker muscular dystrophy
      4. Emery-Dreifuss muscular dystrophy
      5. Limb-girdle muscular dystrophy
      6. Facioscapulohumeral muscular dystrophy
   5. Myotonic syndromes: myotonic dystrophy
   6. Inflammatory myopathies
      1. Dermatomyositis
      2. Polymyositis
7. Connective tissue disorders
   1. Congenitallaxity of ligaments
   2. Ehlers-Danlos syndrome
   3. Marfan syndrome
8. Metabolic disorders
   1. Hypopituitarism
   2. Renal tubular acidosis
   3. Rickets
   4. Hypercalcemia

» READ BOOK EXCERPT ONLINE »

Source: The Diagnostic Approach to Symptoms and Signs in Pediatrics, 2006

Obesity: Principal Causes of Obesity
(The Diagnostic Approach to Symptoms and Signs in Pediatrics)

1. Geneticinfluences and environmental factors
2. Endocrine disorders
   1. Glucocorticoidexcess
   2. Hypothyroidism
   3. Growth hormone deficiency
   4. Hypothalamic dysfunction
   5. Polycystic ovary syndrome
3. Syndromes
   1. Alstrom syndrome
   2. Bardet-Biedl syndrome
   3. Carpenter syndrome
   4. Cohen syndrome
   5. Prader-Willi syndrome

» READ BOOK EXCERPT ONLINE »

Source: The Diagnostic Approach to Symptoms and Signs in Pediatrics, 2006

Mental Retardation: Mental Retardation - etiology
(The 5-Minute Pediatric Consult)

• The cause of the mental retardation is usually an insult to the brain or abnormal development of the CNS but is not evident in many cases. The following represent potential causes.
• Genetic/Familial/Metabolic:
  • Fragile X syndrome
  • Trisomy 21 (Down syndrome) and other chromosomal abnormalities
  • Tuberous sclerosis
  • Neurofibromatosis
  • PKU (phenylketonuria)
  • Other inborn errors of metabolism
• Nervous system anomalies:
  • Hydrocephalus
  • Lissencephaly
  • Seizures
• Endocrinologic:
  • Congenital hypothyroidism
• Infectious:
  • Prenatal cytomegalovirus, rubella, toxoplasmosis, HIV
  • Postnatal bacterial meningitis, neonatal herpes simplex
• Environmental toxins:
  • Heavy-metal poisoning such as lead
  • In utero drug or alcohol exposure, including fetal alcohol syndrome
• Traumatic:
  • Closed-head trauma
  • Asphyxia

» READ BOOK EXCERPT ONLINE »

Source: The 5-Minute Pediatric Consult, 2008

Obesity: Obesity - risk factors
(The 5-Minute Pediatric Consult)

• Intrauterine environment:
  • Gestational diabetes
  • Intrauterine growth retardation
• Obese parents:
  • 1 obese parent: 40% chance of having an obese child. 2 obese parents: 70% chance of having an obese child
• Low socioeconomic status/minority ethnic groups
• Limited intake of fruits and vegetables
• Postnatal environment:
  • Television viewing >2 h/d
  • Consumption of sugared beverages

Obesity - pathophysiology

Complex gene–environment–behavior interaction:

• Hypothalamus: Appetite regulation. Energy balance is regulated at the hypothalamic level. Neuropeptide regulation of hunger and satiety with input from cortical stimuli and gut hormone secretion. Energy stores and energy expenditure are regulated with input from leptin on energy stores and regulation of energy expenditure via the sympathetic nervous system.
• Adipose cells: Cytokines. Adipose tissue produces leptin (energy regulation) and adiponectin (cardiovascular risk).
• Tumor necrosis factor-α (inflammation)
• Psychobehavioral

Obesity - etiology

Energy imbalance:

• Excessive caloric intake: High caloric foods readily available in large portions and often preferred by children
• Inadequate caloric expenditure: Television, video games, and computers part of child’s daily activities

» READ BOOK EXCERPT ONLINE »

Source: The 5-Minute Pediatric Consult, 2008

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