Jakub Chocholek-Brain injury, UNC80 deficiency syndrome-(Poland)

Patient Name: Jakub Chocholek
Gender: Male
Age: 5 years old
Nationality: Poland
Diagnosis: Brain injury, UNC80 deficiency syndrome

Condition upon Admission:
The patient was born at full term. At 6 months of age, family members noticed impairments in both motor and cognitive functions, and local hospitals diagnosed him with "UNC80 deficiency syndrome," for which there is no treatment available. Currently, the child's height and weight were essentially normal. He could not speak, could only lie on his back and support himself in a sitting position, could not roll over or crawl, but could lift and grasp with both hands. His lower limbs were weak, and he had difficulty lifting his legs. He had a poor response to the surrounding environment and could only slowly eat pureed food orally; he could not drink water (he could only use a dropper to drip small amounts into his mouth to keep it moist). An abdominal gastrostomy tube was visible, and the skin around the stoma showed no exudate, redness, or swelling. He developed epilepsy one year ago and was currently taking 7 ml of levetiracetam orally, twice a day. He experienced 8-10 episodes of nodding seizures daily and slept excessively, averaging 20 hours of sleep each day.

Physical Examination upon Admission:
The patient's heart rate was 108 beats per minute, with occasional arrhythmia. He was 110 cm tall and weighed 17 kg. There was no jaundice in his skin, and his throat showed no congestion. His chest was symmetrical bilaterally, and breath sounds in both lungs were clear, with no dry or wet rales detected. His heart sounds were strong, with arrhythmia, but no obvious murmurs were heard in the auscultation areas of the heart valves. His abdomen was soft, with no tenderness or rebound tenderness, and the liver and spleen were not palpable beneath the ribs. There was no edema in his lower limbs.

Neurological Examination:
The patient was alert and responsive to changes in sound and light in the surrounding environment. He rarely cried or shouted and did not speak. Both pupils were equal in size and round, with a diameter of about 3 mm, and showed a sensitive reaction to light without significant nystagmus. His chewing and swallowing abilities were weak, and he could only consume a small amount of pureed food. He had a muscle strength of 4 in both upper limbs, with both hands able to grasp purposefully; however, muscle strength in both lower limbs was 2, and he had limited voluntary movement. Muscle tone in all four limbs was generally normal. He could not roll over or crawl. Deep tendon reflexes in the limbs were mostly normal. The sucking reflex was positive, and the palmomental reflex was also positive. Both sides showed a positive Babinski sign. Signs of meningeal irritation were negative.

Treatment Process:
The patient was diagnosed upon admission with "brain injury, UNC80 deficiency syndrome." He received treatment with neural stem cells, mesenchymal stem cells, and CAST therapy to supplement the number of normal neural cells in the brain, repair nerve damage, improve blood circulation, regulate the immune system, and nourish brain neurons, along with comprehensive rehabilitation therapy.

Post-Treatment:
The child’s condition has improved since admission. His excessive sleeping has alleviated, and his alertness has significantly increased. He has started to vocalize more. The frequency of his seizures has markedly decreased, with nodding seizures occurring 3-5 times a day. His body control abilities have improved, and he has begun to demonstrate independent crawling motions. The duration he can hold up his head has increased. His grip strength has improved, allowing him to hold toys for longer periods. Muscle strength in his legs has increased from grade 2 to 3+, and with minimal assistance, he can stand. His limb mobility has significantly increased, and there is a marked increase in voluntary movement. Pathological reflexes in both lower limbs have turned negative.