Tuesday, September 20, 2016

A Case Of Prader willi Syndrome

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.

Case Discussion:

 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

1 comment:

  1. Hello, my name is Betty. i was diagnosed of HIV virus 4 years back. Before then, i was dating this Derrick guy. we had something great going on. Our love life only lasted for 8 months. the sixth and seven month of our relationship, i began feeling very weak every now and then. But i never suspected anything until I kept on experiencing different symptoms like having sore throats, constant headache, body weakness e.t.c. I decided to go for a medical check up. I was tested HIV positive. when the doctor broke the news to me, it was as if my whole world had crumbled. it dawned on me then that Derrick has been lying to me. i was very mad to an extent i almost committed suicide. But there was nothing i could do, other than weep and weep. ever since then, i have been spending heavily on medications, going from one medical clinic or the other so I can look healthy. Though since i was a kid, i love herbs a lot. i take herbal tea with grandma while growing so i am quite familiar with herbs. early last year, i was on the internet and on a particular health blog, to check for herbal medication as alternative. I saw many comments and read many testimonies. Until i came across a particular testimony on how Dr.ugo cured a patient from herpes simplex virus using pure natural herbs. i reached out to the doctor because I also was thinking Herpes had no cure. I told him about my HIV status.He encouraged me not to panic that he will help me get my deliverance. he prepared some herbs and sent them to me. The herbs were in four 70ml bottles and I took them morning and night. i used as he directed, and in less than three weeks, i started having appetite to eat plenty of food and i gained back my strength. the fourth week,I consumed all the herbal meds. He encouraged me to go for a test which i did. This time, the result was negative. I quickly contacted the doctor and informed him of the news. I immediately asked him to prepare for Derrick too. He did and sent it. Today, me and Derrick are HIV free. All thanks goes to God Almighty for healing us through Dr.Ugo. if you are having any kind of sickness at all, Dr.Ugo is the right person to talk to and i assure you, you will be glad you did. His email: ugoherbalhome@gmail.com you can also write him on WhatsApp +2348104990619.