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Cathy Naghraci - Family hereditary ataxia (Saudi Arabia) Posted on September 27,2013

Author Julia Views Posted at 2014/01/08

Name:Cathy Naghraci
Sex: Female
Country: Saudi Arabia
Age: 18 years
Diagnoses: Family hereditary ataxia, hypokalemia, ventricular premature beat, Mild anemia, hyperthyroidism and epilepsy
Admission Date: 2013-08-21
Days Admitted to the Hospital: 30

Before treatment:
The patient was a full-term normal delivery 18 years ago. She was found to have a developmental delay, weakness of the limbs and lack of normal coordination. She also had epileptic seizures. She received anti-epilepsy drugs for 6 years, than stopped the medication. Then there was no epileptic seizure. But the patient's motor function still had no obvious improvement. The patient still had vague speech, dysarthria and poor balance of the body. She also had astasia and couldn't walk by herself. The movement of both upper limbs was unstable and couldn't grasp object stably. From the onset of the disease, the patient's spirit was ok, the diet was ok. The sleep quality was poor. The urine and defecation were normal. There was a similar patient among her family members.

Admission PE:
Cathy Naghraci was thin. Her thorax was symmetrical. There was no moist rale in both lungs. Her cardiac rate was irregular and had a ventricular premature beat, 5 times/min. There was no obvious murmur. The abdomen was soft, with no masses.

Nervous System Examination:
Cathy Naghraci was alert. Her speech was vague. She could communicate with others. Her memory and orientation were almost normal. Her calculation ability was poor. Both pupils were equal in size and round, the diameter was 3.0mms. The light reflex was normal. The movement of both eyes was almost normal. There was no nystagmus in both eyes. The forehead wrinkle pattern was symmetrical. The nasolabial groove was symmetrical. Her teeth were symmetrical. Her tongue was in the center of the oral cavity. Her tongue did not move flexibly. Her neck moved flexibly. The muscle strength of both upper limbs was level 4+. The muscle tone of both upper limbs was normal. The muscle strength of both lower limbs was level 4-. The muscle tone of both lower limbs was slightly higher than normal. The abdominal reflex was normal. The tendon reflex of both upper limbs was normal. The tendon reflex of both lower limbs was active. Bilateral ankle clonus could be elicited occasionally. The sucking reflex was positive. The sucking reflex was positive. Bilateral palm jaw reflex was positive. The bilateral Hoffmann sign was negative. The pathological reflex of both lower limbs was neutral. The reinforcement was positive. The tuning fork vibration sensation of the left lower limb's far-end was uncertain. Other deep or shallow sensation of other limbs was normal. She could do the finger-to-nose test in a stable manner on both sides, but slowly. She did the action more slowly when she closed her eyes. She did the rapid rotation test in a clumsy and slow manner. She did the digital opposition test on both sides, but the action was slow. She did the heel-knee-shin test in an unstable manner. There were no signs of meningeal irritation. The Romberg sign was positive. She was unable to maintain her balance while standing by herself. With some assistance, she could walk. She had trouble controlling her chest while walking. The laboratory examination showed hypokalemia, mild anemia and the level of thyroid hormones was elevated.

Treatment:
Cathy Naghraci received treatment from August 21, 2013. She received treatment for nerve regeneration and to activate the stem cells in the body. She also received treatment to improve the blood circulation to increase the blood supply to the damaged neurons, to nourish the nerves, to replenish potassium and iron supplements to treat anemia. This was accompanied with treatment to control hyperthyroidism.

Post-treatment:
The patient's anemia has been alleviated. The leukopenia is not severe. The hypokalemia has been alleviated. The serum potassium level is normal. The hyperthyroidism is under control. The reexamination of thyroid function is restored to a normal level. The ventricular premature beat has clearly been alleviated in comparison to before. She can coordinate her movement better. She can control upper limbs in a more stable manner. She can do the finger-to-nose test and digital opposition test in a more stable manner. She can do the rapid rotation test better and in a faster manner.



 

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