Bogusz Ryszard Fiszer-Batten Disease-(Poland)

Name: Bogusz Ryszard Fiszer
Sex: Male
Nationality: Polish
Age: 2Y 4M
Diagnosis: Batten Disease

Before treatment:
The patient was normal when he was born. He could speak more than 10 words including “mama” and ”papa”, his intelligence ability and language ability were the same as children of the same age. His motor functions, vision function and hearing ability were all normal too. In February, 2017, his language ability became bad, he spoke less words, his muscle power and grasp ability were both weak. He was taken to hospital and did some tests where was diagnosed with Battern disease. 6 months ago he was able to crawl, speak a couple words and had hearing ability but 2 months ago, he was unable to hear, see, speak or crawl. He had some times of convulsion and was diagnosed with epilepsy.
At present his intelligence ability is delayed and he can only speak around 10 words but no sentences. He can understand words and simple commands and show his feelings with gestures such as for eating and toileting. He is able to stand, sit and turn over his body by himself, but he needs help with walking. He is able to grasp but not well.
His spirit is good, he lost some weight, his diet and sleep patterns are normal.

Admission PE:
Bp: 85/55mmHg, Hr: 110/min, breathing rate: 21/min. body temperature: 36.7 degrees. Height: 95cm, weight: 15Kg. The patient has normal physical development and good nutrition status. There is no injury or bleeding spots of his skin and mucosa. Chest development is normal, the lungs breathing was clear with no rales and no pleural friction sound. The heart beat was powerful but with irregular cardiac rhythm, there is no murmur in the aortic valve area. The abdomen was soft and flat with no masses or tenderness. His liver and spleen were normal, there was percussive tympany, he had normal 4 limbs development and no edema of the legs.

Nervous System Examination:
Patient was alert and his mental status was fine. He could not complete the memory, calculation and orientation ability exams. He could not complete the examination of comprehensive ability. His eyesight and hearing ability is lost, he also had speech disturbance. Both pupils were equal in size and round, diameter of 2.5 mm, react well to light but he could not complete the eyeball movement examination. The bilateral forehead wrinkle and nasolabial groove are symmetrical, his chewing and swallowing function were normal. He could not show his teeth or make his tongue extend out. Doctors could not check his 4 limbs muscle power. The 4 limbs muscle tone was normal. He could not stand, walk or sit but can roll over in bed himself. His hands can grasp toys, the abdomen reflex was normal,  the ankle clonus was positive. Tendon reflex of the arms was normal and of the legs it was active. Sucking reflex was negative. The leg Babinski signs were positive, Hoffmann sign of both sides was negative. He could not complete the sensory and coordinate movement examination. The meningeal irritation sign was negative.

Treatment:
After the admission he received 3 times nerve regeneration treatment to repair his damaged nerves, replace dead nerves, nourish nerves, regulate his immune system and improve blood circulation. This was done along with rehabilitation training.     

Post-treatment:
After 14 days treatment his twitch reduced, and his condition was stable.

 

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