Emilio - Miller Dieker syndrome (Argentina) Posted on June 4, 2014

Name:Emilio Alejandro Finos                 
Sex: Male
Country: Argentina
Age:2 years
Diagnosis: Miller Dieker syndrome, Epilepsy
Date:April 14, 2014
Days Admitted to Hospital: 27 days

Before treatment:

The patient was diagnosed with Miller Dieker syndrome through gene test when he was 2 months old. He suffered from epileptic seizure when he was 3 months old. Sometimes, he had grand mal, the longest seizure lasted for 15 minutes. After adjustment of the antiepileptic drugs for many times, he now takes sodium valproate and Clobazam. He had seizure 3-4 times every day and it last several seconds each time. Both hands couldn't hold objects. He couldn't turn over, sit-up, crawl or walk. Both feet could kick and tap. He had poor control of his head. He had language barrier and could make sounds.  He could distinguish persons, sounds and environments.  From the onset of disease, the patient had poor spirit. He had movement delay and intelligence delay. At present, the patient depends on liquid and semiliquid diet. He sleeps more and sleeps 15 hours each day. He has defecation every 1 or 2 days with assistance of medication. There is no familial hereditary disease.

Admission PE:
Bp: 80/50mmHg; Hr: 96/min.Br: 23/min. Weight: 13.5Kg. There was no congestion or ulceration in the pharyngeal. He suffered from developmental retardation. The nutrition was normal. The skin was normal, with no stained yellow. Thorax was symmetrical. The respiratory sounds in both lungs were rough, with moist rales scattered in both lungs. The heart sound was strong and the heart rhythm was regular. There was no obvious murmur in each valve. The abdomen was flat, with no mass. The liver and spleen were not palpable under the ribs. Both feet were flat.  Other development showed no abnormalities.

Nervous System Examination:
The patient was alert. His spirit was poor. He could make sound production and smile to express emotion. He couldn't cooperate with the examination of memory ability, calculation or orientation. He could distinguish persons, sounds and environments. He had poor comprehension, only had simple communication with acquaintance. Both eyes had no gaze on objects. Both pupils were equal in size; the diameter of both eyes was 3.5mms. Both pupils reacted sensitively to light stimulus. The forehead wrinkle pattern was symmetrical; the nasolabial sulcus was equal in depth. His neck could turn around freely. The muscle strength of neck was weak and the head had poor support in sitting position. The muscle strength of trunk was weak. He couldn't turn over or maintain sitting position by himself. Both hands had grasp action, but couldn’t hold objects. His couldn't raise his arms. Both feet could kick and tap. With some assistance, the patient could stand, but he couldn't walk. He couldn't cooperate with the examination of muscle strength of his four limbs. The muscle tone of his four limbs was low. The abdominal reflexes was not elicited. The tendon reflex was not elicited. Bilateral pathological reflex was negative. He couldn't cooperate with the deep and shallow sensation examination. He also couldn't cooperate with the examination of coordinate movement. The test of blood valproic acid sodium blood drug concentration result was higher than normal.

Treatment:
We gave Emilio Alejandro Finos a complete examination. He received treatment for nerve regeneration and to activate stem cells in the body. He received treatment to improve the blood circulation in order to increase the blood supply and nourish the damaged neurons. He also received treatment to boost his immune system. This was accompanied with daily physical rehabilitation training.

Post treatment:
The patient's weight has increased to14Kg.  His spirit is better than before.  The profuse sleeping is alleviated and sleep 10-12 hours each day. He has more emotional response. Both eyes can gaze on objects better than before.  The activity of four limbs has increased. He can do more actions, such as lift hands and right hand can go over his head. His lower limbs has gained stronger muscle to kick and tap. The muscle strength of his trunk is enhanced, he can turn over partly. He can support himself in kneeling position. He has the edge to get up from supine position. The tendon reflex of his four limbs is elicited. Antiepileptic drug: The dosage of sodium valproate and Clobazam have been reduced obviously. The recheck of Valproic acid sodium blood drug concentration is restored to normal level.

 


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August 8, 2014

Hola soy Andrés el papa de Emilio espero que anden muy bien, envío estudios de Emilio correspondientes al mes de julio, espero su respuesta, saludos familia Finos.
 

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