Total Posts: 2 - Pages (1): [1]
Author: Kldiashvili Eka
Posted: Sep 15 2006 - 09:57 AM
Subject: Consultation
Patient: 2 years old male

At born: weight – 3,6 kg, length – 51 cm

At present: weight – 16 kg, height – 93 cm

The delivery was difficult – childbirth trauma with break of clavicle. At maternity home Luminal treatment during 5 days was performed.

At 15th day patient was consulted by neurologist. The following treatment schema was suggested:
1. Sermion – ¼ of 5 ml (during 45 days);
2. Actovegin and vitamin B1 injections – 0,5 ml (1st day)
3. Status Ophthalmicus and vitamin B6 injections – 0,5 ml (2nd day)
4. Proserin – 0,2 mg twice per day (3rd day)
5. Massage and electrophoresis (Eofilin, Nicotin Acid and Proserin)

After this schema patient was treated by Dibazol and Cavinton (1/4) during one month. At 2nd month the rupture surgical operation was done.

The development was normal. Teething started at 9th month. The first steps were done at 14th month.

At 19th month patient was treated by Encephabol and Noophen (during 1 month) – the cause was nervousness and fidgety behavior.

At 20th month patient was consulted by neurologist and the treatment by Cogitum and Glicine (during 2 months) was suggested. Furthermore, the injections of Cerebrolisine (10 injections), Status Ophthalmicus (10 injections) and Actovegin (10 injections) were done.

After this the genetic analysis was done:
Phenylalanine in plasma (21.07.2005) – 19 mg/l (normal)
Evaluation: below 30 mg/l – normal
40-100 mg/l – control specimen necessary
above 100 mg/l – clearly elevated
Serum analysis (22.07.2005): Amino acid proline – 41,2 mg/l (increased)
Evaluation: normal range – 11-35 mg/l

Child recognizes relatives (mother and grandmother), surroundings (shops and etc.). He likes sitting and playing in the bath. But he does not answer questions; patient’s speech is restricted by two words - IA and sometimes KAKA.

Patient was consulted by endocrinologist and otolaryngolosit, no pathology was revealed. The sleep is normal.

Questions: 1) Are the available laboratory data enough to judge about the disturbance of proline
uptake/ hyperprolinemia?
2) What other diseases should be considered for the differential diagnostics in this
clinical case?
3) What further investigations would be recommended to reach a final diagnosis?
Author: Dr. Babadahly Matilda
Posted: Sep 15 2006 - 09:58 AM
Subject: re: Consultation
Dear Mrs Eka

Thank you for the interest in our treatment system.
Hyperprolinemia is a rare disorder and we do not have much experience in treating it.

Also we would like to mention that it is important to examine the child at least two times to compare the results and to examine close relatives of the child

We would like to advice you to contact the special medical genetic centers.

You could read some information in the internet
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=239510

http://www.bchealthguide.org/kbase/nord/nord580.htm
Total Posts: 2 - Pages (1): [1]
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