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Benjamin - Neuronal Ceroid Lipofuscinosis (Chile) Posted on November 27,2010

Author Julia Views Posted at 2014/01/08

Name: Benjamin Marcelo Marin Retamal
Gender: Male
Age: 8
Country: Chile
Diagnosis: Neuronal Ceroid Lipofuscinosis (Type2)
Admission Date: 2010-09-15
Number of days admitted: 37

Medical History:
Benjamin was born normally, with no medical history of dystocia or asphyxia. Before he was 3 years old, his physical and cognitive development was normal. It was discovered that he had a speech disorder when he was 3 years old. He developed blurred vision when he was 4 years old, with no sensation of physical rotation or dizziness. His family doctor couldn't find any explicit causes. Benjamin lost his eyesight when he was 5 years old. Benjamin is only able to speak single words and cannot make complete sentences. Both corners of the mouth have excessive salivation. There has been a decrease in his cognitive abilities. His convulsions began in March of 2009 and now occur about 2 times each month, the convulsions last 1-2 minutes each time. Benjamin received an examination at his local hospital and was diagnosed with Neuronal Ceroid Lipofuscinosis. He received sodium valproate to help control the epileptic seizures. Then he was put on Clonazepam for the seizures but there were no improvements seen.

Benjamin's condition gradually worsened. He could walk with some assistance 3 months ago, but 2 months ago was completely unable to walk. He could sit up independently. Two weeks ago he suffered from an epileptic seizure lasting 1-2 minutes and during the episode, his eyes were fixated to the left. At present, Benjamin has a behavior disorder, has difficulty concentrating, and has a continued decrease in his cognitive abilities. His pupils are unable to detect anything except strong light stimuli. He is able to drink fluids without choking.

Nervous System Examination:
Benjamin was alert. He was unable to cooperate with the memory, calculation, comprehension and orientation examinations. He suffers from aphasia, but he could make simple sounds such as "A","A","A." Benjamin was also unable to cooperate with the vision and hearing examinations. He was able to respond to light and voice stimuli. Both pupils were equal in size, with a diameter of about 2.5mm. Both pupils responded slowly to light stimulus and the ocular movements did not match. The forehead wrinkle pattern was symmetrical. Both sides of the nasolabial groove were equal in depth. Benjamin had difficulty with swallowing, and had excessive salivation. He couldn't cooperate with the examination of the teeth and tongue. He was also unable to cooperate with the examination of the muscle strength of the limbs. The muscle tone wasn't high. The abdominal reflex was normal. The ankle clonus was negative, the bilateral tendon reflexes were normal. The sucking reflex was negative. The Babinski's sign of both lower limbs was suspicious. Benjamin was unable to cooperate with the Hoffmann's sign examination of the upper limbs. He also was unable to cooperate with the examination of the depth of feeling sensation and coordinated movements.

Treatment:
Benjamin received a complete examination and was diagnosed with Neuronal Ceroid Lipofuscinosis (Type 2). He was given treatment in order to expand the blood vessels, given anti-epileptic seizure medication, stem cell activation treatment, and medications to nourish the neurons. This was combined with daily physical rehabilitation training.

Post-treatment:
Benjamin's condition has had good improvement. His weight and height has increased. Weight: 28kg, Height: 130cm. The epilepsy has been controlled. Benjamin now has more autonomic language ability. He can distinguish between the patterns on the TV screen and touch the pictures accurately. The hyperactivity has decreased. His trunk is straight and upright when he stands. Benjamin can walk with the assistance of his family members.

Date: Thu, 11 Apr 2013

Dear,

Ahora no trabajo en el hospital. Me alegro de que Benjamin este mucho mejor.

Espero que os puedo ver otra vez algun dia.

Un beso,

Viola


 

 

 

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