Medical History:
santiya started having difficulty concentrating and was hyperactive at 3 years old. The symptoms showed a gradual increase. Three years ago, his family members noticed some differences between him and the other children that concerned them. santiya's parents took him to the hospital to see a doctor, and he was diagnosed with MBD. The doctor gave him medications to control his symptoms, but there was little improvement. His responses were slow, poor cognitive abilities, and he had other symptoms. santiya received an MRI, EEG examination and genetic diagnostics. He was diagnosed with Neuronal Ceriod Lipofuscinosis (Type 2).

santiya initially had ataxia, and his walking was unstable. He received appropriate treatment, with limited results. His condition deteriorated rapidly 10 months ago. He was unable to walk independently, but was able to walk with bilateral support. He was able to crawl. The epileptic seizures began about 8 months ago and were mostly generalized seizures. He had seizures every day; most of the seizures followed some form of physical activity. santiya received anti-epileptic medications but the frequency of the seizures didn't decrease. He started having difficulty communicating and gradually developed aphasia, 3 months ago. He started to excessively drool 2 months ago.

santiya's condition continued to get progressively worse as he got older, which only increased his parent's concern. The family learned about our hospital from other patients, who had received effective treatment at our hospital in the past. After santiya's parents consulted with our doctors, they made the decision to come to our hospital for treatment.

At the time santiya was admitted to our hospital, there was no significant increase in his weight from before. He was in good spirits, with a good appetite and he got normal amounts of sleep. He was unable to control his bowel movements. His maternal aunt suffered from the same disease, and his sister is a carrier of the Batten disease gene.

Admission PE:
Height: 140cm, Weight: 26-27kg. The MBD symptoms were obvious. santiya's growth and nutrition were normal. There were no yellow stains or hemorrhagic spots on the skin. The thorax was symmetrical. No respiratory murmur in the lungs and there was no pleural frictional rubbing or dry or moist rales. Through auscultation it was determined that the heart sounds were strong. The cardiac rate was faster than normal but the rhythms were regular and there was no pathological murmur. His abdomen was ok and there was no swelling in either of the lower limbs.

santiya was alert but couldn't cooperate with the memory, calculation, and orientation examinations. He suffered from aphasia and often uttered difficult-to-understand words. He also couldn't cooperate with the vision and hearing examinations. Both pupils were equally round with a diameter of about 3.5mm. Both pupils responded slowly to light stimulus. The forehead wrinkles were symmetrical. Both sides of the nasolabial groove were equal in depth. santiya could swallow normally, but he had problems with drooling. He couldn't cooperate with the oral examination. 

Treatment:
santiya received a complete examination and was diagnosed with Batten disease. He was given treatment in order to expand the blood vessels, given anti-epileptic seizure medication, medications to nourish the neurons, and had the neural stem cells activated and transplanted. This was combined with rehabilitation training.

Post-treatment:
At present, santiya can walk a distance of 2 meters unassisted and his gait is good. He can speak 5 or 6 words and the amount of drooling has decreased. He is more expressive and his vision is better. His overall condition has shown some improvement.

After the treatment was completed, santiya went back to his hometown. His mother wrote to us:
"santiya has greatly improved; The EEG (electroencephalogram) shows such a remarkable improvement which was such a nice surprise for all of us. The EEG results were the best we had seen in years. He no longer needs to take sedatives, however he does continue to take the other medications as before. Everything has changed for the better; it was a good end of the year for us."

2011-04-05

"Dear Dr. Xi , Lisa  :

Good morning ,I am Marcelo , the Santiya's father . How are you ? we hope you be fine ...

Santiya is so good . His seizures are controlled. He has increased weight

He can walk with some help, he can walk 400 metres a day. He has increased his appetite. He continue whit horsetherapy , Hydrotherapy and the school".