A 3 Year old male child is brought to the pediatrician with the major complaint of excessive weight gain and poor intellectual development. Mother mentions that the child was a floppy infant as a baby and had difficulties with feeding but by the time the child reached 2 years of age , he has a very good appetite and constantly craves for food resulting in weight gain. He seems to be hungry all the time. Also his mother has noticed that her son is developmentally slow compared to his elder siblings, His speech was delayed and he started walking just a few months back. At present he has difficulty speaking full sentences and also responds slowly to commands.
A diagnosis of Prader willi syndrome was made.
Prader willi syndrome
It is a genetic disorder present at birth that leads to physical, mental and behavioral abnormalities.
Genetics and pathology: Prader willi syndrome is caused by a deletion on the long arm of the paternally inherited chromosome in 70%of cases, or due to maternally uniparental disomy in 25 % cases. The remaining 5%are due to an imprinting defect.
Clinical Features: As babies these patients have difficulty in feeding often requiring nasogastric intubation, sticky saliva, extreme hypokinesia and a combination of central hypotonia and dystonia. Children with Prader willi syndrome also have distinctive facial characteristics and other dysmorphic features. They have almond shaped eyes, narrowing of the head at the temples, aturned down mouth and a thin upper lip.
Despite initial poor feeding, these children begin to show increased appetite as they grow, This can lead to excessive eating and life threatening obesity.
These patients also have hypogonadism and under developed sexual organs and delayed puberty.
Learning disabilities may be severe with decreased ability to think and solving problems.
They may also suffer from vision problems like myopia (nearsightedness)
The main complications are obesity related that can lead to conditions like type 2 diabetes , heart disease, stroke and sleep apnea.
Management: Prader willi syndrome has no cure but certain measures could be done to help improve the quality of life.
1. Access to food should be strictly supervised and with the help of a nutritionist balanced diet should be given avoiding excessive eating.
2. Human growth hormone treatment can help stimulate growth influence body conversion of food into energy.
3. Sex hormone treatment is given to patients with delayed puberty.
4. Good physical exercise which is age appropriate can help prevent obesity as well as strength the muscles and improves growth.
5. Behavioural and mental problems should be discussed with a psychologist and appropriate measures to help improve mental and intellectual abilities