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Danila Mayorchik-Batten disease-(Russia)-Posted on June 13th, 2017

Author Zhangqi Views Posted at 2017/06/13

Name: Danila Mayorchik
Sex: Male
Nationality: Russian
Age: 4.5Y
Diagnosis: Batten disease
Date of Admission: Feb. 5th, 2017
Treatment hospital/period: Wu Medical Center/13 days

Before treatment:
The patient was normal when he was born. He was able to say “papa” and ”mama” at 12 months, he was able to walk at 15 months, he was the same as normal kids up to 3 years old. His motor functions and diet were normal, only his speaking ability was delayed. He could only speak 10 words at the age of 3 years and he was unable to say a whole sentence. On January 2nd, 2016 he had a spasm and was diagnosed with epilepsy. He was prescribed some medicines but his condition became worse, his motor function was bad, and he had seizures in the last year that would last 6-7 minutes. When he had a seizure he lost consciousness and when he woke up he cried a lot. The longest seizure lasted for 12 minutes and most of time they occurred just before sleep and after waking up. He was diagnosed with Batten disease CLN2 type after a gene test and his medicines were changed. After 3 weeks his condition was stable and his motor function was a little better, but his intelligence condition and speaking ability were bad. He could only speak about 10 words though his comprehension ability was normal. He used gestures to express his feelings and get what he wanted such as “hungry” or “pee”. He was able to stand up, sit up and turn over by himself but he needed help to walk. He was able to grasp objects but his fine motor movement was bad. His parents wanted  a better life for him so they came to our hospital.
His spirit, diet and sleep are normal.

Admission PE:
Bp: 95/58mmHg, Hr: 96/min, body temperature: 37 degrees. Height: 110cms, weight: 17kgs. His physical condition was normal and his nutritional status was good. The skin and mucosa were normal, with no yellow stains or petechia. Oropharynx was not congestive. His bony thorax was symmetrical. The respiratory sounds in both lungs were normal, there was no dry or moist rales. The heart sounds were strong. The cardiac rhythm was regular, with no obvious murmur in the valves. The abdomen was flat and soft, with no masses or tenderness.  His liver and spleen were normal. Shifting dullness was negative. Spinal column was normal. There was no edema in either leg.

Nervous System Examination:
The patient was alert and his spirit was good. He could not complete the memory, orientation and calculation ability examination. His understanding is basically normal. He can perform the simple orders but has language retardation,. He can say "mom and dad" and so on but with 10 words only. He expresses his needs through gestures. He could not complete the examination of vision and hearing. Both pupils were equal in size and round, the diameter was 2.5mm. Both pupils react well to light stimulus. His eyesight is normal with no diplopia and both eye fields were normal. The forehead wrinkles were symmetrical. Bilateral nasolabial sulcus was equal in depth. He could not complete the examination of teeth and tongue showing or muscle power but his muscular tension is normal. He can walk slowly with help, he can sit down and stand up, stand alone and turn over on the bed independently. Large joint movement of both arms are normal, hands fine motor is poor, his hand can grasp toys or objects etc. but he can't use a spoon to eat. Tendon reflex of the arms is normal. Tendon reflex of the legs is active, and abdomen reflex is normal. Sucking reflex is negative, Hoffmann sign of both sides are negative, Babinski sign is positive, bilateral ankle clonus is positive. He could not complete the examination of sensation examination and coordinate movement. Meningeal irritation sign was negative.

After the admission he received related examinations and was diagnosed with Batten disease. He received 3 neural stem cell injections and 3 mesenchymal stem cell injections to repair his damaged nerves, replace dead nerves with new injected stem cells, nourish nerves, regulate his immune system and improve blood circulation. This was done along  with rehabilitation training.     

After 13 days’ treatment, his speed of walking was faster, step pitch was better, he can stand by himself for 90 seconds.


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