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Yana Ruban-Batten disease(Kazakhstan) Posted on May 30, 2011

Author Julia Views Posted at 2014/01/08

Name: Yana Ruban
Sex: female
Country: Kazakhstan
Age: 5
Admission Date: 2011-04-19
Diagnosis: Batten disease
Days Admitted to Hospital: 35

Two and a half years ago Yana had a serious fall and suffered a grand mal seizure. Her family took her to the local hospital and she was given Depakine for antiepileptic treatment, but the seizures still occurred. Yana also had frequent falls and visual impairment. Her ability to speak gradually decreased, she became unresponsive and her cognitive abilities gradually decreased. Along with the difficulty walking, Yana could not easily raise her head, and about two months ago was unable to use her hands to grasp objects. Currently Yana is able to speak only a few words but her family can understand her meaning. She is able to move her arms and legs while she is in bed as well as turn over and sit up. Yana continues to experience minor seizures with localized tremors. For the sake of continued treatment, Yana's family decided to bring her to our medical center.


During the nervous system examination, Yana was alert and in good spirits. She had difficulties with her memory, calculation and orientation tests. She couldn't cope with the visual examination. Yana's language ability was impaired as well. The pupils had slow responses to light stimuli. The ocular movements were not coordinated. Yana was unable to walk and was bed ridden. She could turn over while in bed and had hyperactivity in all four limbs. She was able to grasp objects with her left hand. She couldn't cope with the muscle strength examination. She had an escape reaction during the physical examination. She was unable to sit up independently and her head was in a lowered position while in the sitting position. She was unable to stand because of the weak muscle strength of the legs. The muscle tone was low. The abdominal reflex was normal, but the tendon reflexes of all four limbs were not elicited. The sensation of pain was existent. Yana couldn't cooperate with the other examinations for sensation or the coordinated movement examination.

Yana was given treatment in order to improve the blood circulation, given anti-epileptic medication, nourishment for the neurons and this was combined with daily physical rehabilitation treatment.

After the completion of the treatment program, Yana was able to understand simple, repeated words, such as "head up, head down". She still has language impairment and when she tires to speak words, can only form the shapes with her mouth. Yana can say "ah" occasionally. Her visual acuity further decreased after the treatment, but she retained some portion of her vision. Yana no longer has grand mal epilepsy; the epileptic seizures have been controlled. The tremors in all four limbs have decreased. There is still some excessive salivation. Both hands can grasp and Yana has a desire to grasp nearby objects, but the coordination is poor. She can self-correct her head lowering while in a sitting position and maintain holding her head up for a few minutes to several hours. The sitting position can be maintained for several minutes to one hour with no back support.

 

 

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