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- Mon Oct 03, 2005 12:28 am
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?
| Dr. Heba Ismail
- Sun Oct 09, 2005 3:07 pm
Thank you for your very informative mail.
As for the first question, hyperprolinemia should be diagnosed not only by a high serum proline level, but also by presence of proline, hydroxyproline and glycine in urine.
I see from the drugs prescribed that this child mainly has neurological problems, can you please specify the symptoms, and mention if there are any convulsions?
Also, skin manifestations and abnormal facial features?
Are the parents related, and is there any positive family history?
The lists of differential diagnoses are long, so we need to narrow our search by specifying the signs and symtoms.