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Milica Maksimovska-Metachromatic Leukodystrophy(Macedonia)

Author Zhangqi Views Posted at 2016/10/18

Name: Milica Maksimovska
Sex: Female
Nationality: Macedonian
Age: 3Y 4M
Diagnosis: 1. Metachromatic Leukodystrophy  2. Secondary Epilepsy  3. Hepatic Dysfunction
Date of Admission: May 16, 2016
Treatment hospital/period: Wu Medical Center/14 days

Before treatment:
On January 29th, 2013, Milica was born full-term and normal, all the examinations showed no abnormal. At the age of 14 months, she was not able to walk normal and her motor function was bad. She was taken to Turkey and Russia to do the gene test in July 2015 and December 2015, the result showed ARSA gene defect, so she was diagnosed with metachromatic leukodystrophy, although she received treatment, her motor function and intelligence were worse and worse, she also had paroxysmal spasm. She lost all of her motor functions now, she is not able to speak, her intelligence is bad, it is hard for her to chew, she always puke after eat. She sleeps a lot. She eats liquid food. Her urination and excrement were normal. 
    
Admission PE:
Bp: 80/50mmHg, Hr: 112/min. Weight: 9.5 Kg. There was no yellow stain or petechia on her skin and mucosa. The respiratory sounds in both lungs were rough, there were no dry or moist rales. The heart sounds were powerful, her heart rate was fast regular rhythm. There was no obvious murmur in the valves. The abdomen was flat and soft, with no masses or tenderness. Her liver and spleen were normal. There was no edema in both lower limbs.

Nervous System Examination:
She was alert but bad spirit, she was not able to speak. Both pupils were round but not equal in size, the diameter of right was 4mm, left was 3mm. Both pupils were lags in response to light stimulus. She was not able to move her eyeballs well, she had obvious horizontal nystagmus. The forehead wrinkle pattern was symmetrical, bilateral nasolabial sulcus was equal in depth. She didn’t cooperate with other neurologic examinations. The muscle power of her waist and back was bad, she was not able to turn over or sit up, it was difficult for her to move her limbs or trunk, the muscle of her upper limbs’ elbows were contractural, she was not able to open them, the right one was worse, both of her hands were hardly to hold objects. The muscle power of lower limbs was at level 2-. She was not able to stand or walk, the muscle tension of four limbs was normal. Four limbs’ tendon reflex was weak. The abdominal reflex was abnormal. Bilateral Hoffmman’s sign, sucking reflex, palm jaw reflex and lower jaw reflex were negative, bilateral Babinski’s sign was positive. She was able to cooperate with the sensing system examinations or coordinate movement examinations. The meningeal irritation sign was negative.

Treatment:
After the admission, she was diagnosed with metachromatic leukodystrophy and secondary epilepsy. She received 3 neural stem cell injections and 3 mesenchymal stem cell injections to repair her damaged nerves, regenerate new nerve cells, active the new born cells in her body, reduce her epileptic attacks, build up her resistance, improve her gastrointestinal function, protect her liver function, nourish her nerves, improve her blood circulation and she also had rehabilitation training.

Post-treatment:
After 14 days treatment, she had less epileptic attack and paroxysmal spasm, she had less vomit after meals, she had less horizontal nystagmus, her hands and elbows were more relaxed, it was easier for her to raise her hands, grasp and move her lower limbs. Her neck and back were powerful, she was able to turn over her body, she was able to sit up with someone’s help.

E-mails:

Date:2016-6-15

Dear Doctors

The patient Milica Makimovska takes her medicine regulary and do physical exercises as it is necessary.

Last week she had a high temperature up to 39C for two days. She took a medicine Cefaclor : for six days and Paracetamol for two days and everything was OK then.

There is imrovement in stretching fingrs and she has had her palms straight  by doing the exercises regulary.

 

 


This letter includes blood tests or well .
We are asking you kindly to tell us whether we can take the child to the Mineral Spa?
Thank you very much for your answer back
in advance

Yours sincerely
 

Maja Maksimovska,Milica's mother

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