Xiomara - Cri-du-chat syndrome (Argentina) Posted on June 4, 2014

Name:Xiomara Nahiara Pikaluk                 
Sex: Female
Country: Argentina
Age: 4 years
Diagnoses: Cri-du-chat syndrome, Upper respiratory tract infection, Cerebral Palsy
Date:April 14, 2014
Days Admitted to Hospital: 27 days

Before treatment:
The patient's weight was lower than normal baby at the time of birth. She was diagnosed with Cri-du-chat syndrome. After birth, the patient suffered from motor developmental retardation and intelligence retardation, but she didn't received special therapy. At present, the patient suffered from speech disorders. She could make sounds and the sounded like miaow. She turns head or sit-up in a slow manner. The coordination of her four limbs was poor. The ability to turn over and crawl was poor. She could stand with wear orthosis and the support of hands. She stands with both toes touching the floor when she does not wear orthosis. But she couldn't walk.

Admission PE:
Bp: 80/50mmHg; Hr: 126/min; Temperature: 38.3 degrees. Br: 23/min. Weight: 10kg.  There was no congestion or ulceration in the pharyngeal. She suffered from developmental retardation and poor nutrition. The skin was normal, with no stained yellow. Thorax was symmetrical. The respiratory sounds in both lungs were rough, with no dry or moist rales. The heart sound was strong and the heart rhythm was regular. There was systolic murmur in second aortic valve area. There was no murmur in other the valves. She had abdominal concavity, with no mass. The liver and spleen were not palpable under the ribs. Her feet had high arches.

Nervous System Examination:
The patient was alert. She had microcephaly and little or small face. The distance between both eyes were and still too wide. The outer corner of the eye was incline to downside. She had speech disorders. She could make sound production and smile to express emotion. She sounded like miaow. She couldn't cooperate with the examination of memory ability, calculation or orientation. She could understand simple instruction and carried out simple instruction. 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. She turns head or sit-up slowly. The coordination of her four limbs was poor. She couldn't turn over or crawl. She stands with both toes touching the floor when she does not wear orthosis. With support of both hands and when she wears orthosis, she could stand. If we hold the patient's hands, the patient could walk. But she couldn't walk by herself. She couldn't cooperate with the examination of muscle strength of four limbs. The muscle tone of her four limbs was higher than normal. The abdominal reflexes was elicited normally. The tendon reflex of her four limbs was normal. Bilateral pathological reflex was negative. She couldn't cooperate with the deep and shallow sensation examination. She also couldn't cooperate with the examination of coordinate movement.

Treatment:
We gave Xiomara Nahiara Pikaluk a complete examination and she was diagnose with Cri-du-chat syndrome and upper respiratory tract infection. She received treatment for nerve regeneration and to activate stem cells in the body. She received treatment to improve the blood circulation in order to increase the blood supply and also to nourish the damaged neurons. She also received treatment to boost her immune system. This was accompanied with daily physical rehabilitation training.

Post treatment:
The upper respiratory tract infection has been cured. The sound better than before. The patient takes or eats more food now. Her weight increased 2Kg. She can turn head and sit-up quickly. The coordination of four limbs are better than before. She can do certain actions better now, such as crawling and turning over. Without wearing orthosis, she could stand with both heel touching the floor.

 


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