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Maria Carolina Juarez-Spinal Muscular Atrophy-(Argentina)

Author Zhangqi Views Posted at 2020/01/23

Name: Maria Carolina Juarez
Sex: Female
Nationality: Argentina
Age: 22Y
Diagnosis: 1. Optic neuroretinopathy of prematurity grade 5  2. Spinal Muscular Atrophy
Discharge Date: 2020/01/10

Before treatment:
The patient was born prematurely at 25 weeks of pregnancy and was treated with oxygen in the incubator for 25 days after birth. She then left the incubator and for 2 months her condition was stable. After examination the doctor found that the optic nerve and retinal development of the patient was abnormal and the vision was impaired. It was diagnosed as " Optic neuroretinopathy of prematurity grade 5" after examination. At two years of age her parents took her to a superior hospital for surgical treatment (details are unknown) but there was no improvement in vision after the operation. At present her binocular vision is completely lost and there is no sense of light. She has a history of familial spinal muscular dystrophy with gradual loss of motor function of both legs and also muscle atrophy. At present both legs cannot  move on the bed, she cannot stand or walk and she has been treated surgically because of scoliosis.
Patient has good spirit, sleep and diet are normal, defecation needs daily oral drug help and urination is basically normal.

Admission PE:
Heart rate: 90/min, Bp: 121/75mmHg, body temperature: 36.5 degrees, breathing rate: 21/min, height: 140cm; weight: 47kg. She has maldevelopment, poor nutrition, there was a postoperative scar about 50cm in the middle of her back, no bleeding spots or yellow stains across the skin and mucosa. She has a symmetrical chest, clear respiratory sounds of both lungs, no dry or moist rales heard, strong heart sounds, no obvious murmur heard of various valves, a flat abdomen, no masses and  a normal liver and spleen.

Nervous System Examination:
Patient was alert, had clear speech with normal memory and calculation abilities. Both pupils had a milky white covering, no light reflex and no sense of light. The left eyeball was slightly protruding and the right eye was sunken. Fundus (left): retinal detachment, scar hyperplasia, vitreous fibrous membrane could be seen. Fundus (right): the retina was funnel curled, the fundus was dark red, and the blood circulation was basically normal. She had a symmetrical forehead wrinkle and nasolabial fold, normal swallowing, normal hearing and free neck movement. The proximal muscle strength of both arms was grade 4, distal adductor muscle strength was grade 4 +, extensor muscle strength was grade 4-, grip strength was  grade 4 +, proximal muscle strength of the left leg was grade 2-, distal muscle strength was grade 1 + , proximal muscle strength of the right leg was grade 2 +, distal muscle strength was grade 2-. Muscle tension of the extremities was basically normal. Both arms tendon reflex was basically normal whilst the legs tendon reflex was decreased. The knee joint of both legs were slightly bent, the left side was  150 degrees, the right side was 160 degrees. The abdominal wall reflex was normal, pathological signs were negative, she was not able to complete the tests for deep and shallow sensation and the coordination test. There was a  negative meningeal irritation sign.

Treatment:
After the admission she was diagnosed with 1.Optic neuroretinopathy of prematurity grade 5 2. Spinal Muscular Atrophy. She received 3 neural stem cells and mesenchymal stem cells to repair her damaged spinal cord nerves and retina, replace dead nerves and cells, nourish nerves and retina, improve body environment, regulate her immune system and improve blood circulation. This was combined  with rehabilitation training.   

Post-treatment:
After 14 days treatment  both eyes could locate the light source with  her left eye more sensitive than her right eye. She had increased muscle power of the four limbs  The muscle power of the arms increased 10% with the proximal muscle strength now grade 5-, the distal adductor muscle strength was grade 5-, the extensor muscle strength was grade 4+ and the grip strength was  grade 5-. The muscle power of her legs increased 30-40% with the muscle strength of both legs now grade 4 and the translation speed was faster than before. She could raise her legs easier and stand with help.

Date: 2020-1-16
 
Dear Lisa,
I attached a video so as the doctors can see how Carolina is raising her legs higher. Let me know if you can see the video.

Best regards,
Florencia Juárez

 

 

 

Date: 2020-4-12

Dear Doctors,

I attached 2 photos about Carolina. In the first one she is standing. Years ago, she had some difficulty with the trunk as she could not hold it for a long time because she got tired and pulled her chest forward. Now that doesn't happen.

In the second photo, she raises her leg up high alone and keeps it up her right leg, the left one still has a bit difficulty, but it is operated leg.

Regards

 


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(Download the Windows Media Player Firefox Plugin if you are using Firefox browser.
To know more,Please read Using the Windows Media Player plugin with Firefox.)

Date: 2020-4-12

Dear Doctors,

I attached 2 photos about Carolina. In the first one she is standing. Years ago, she had some difficulty with the trunk as she could not hold it for a long time because she got tired and pulled her chest forward. Now that doesn't happen.

In the second photo, she raises her leg up high alone and keeps it up her right leg, the left one still has a bit difficulty, but it is operated leg.

Regards

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