Girl has rare disease, one in 30,000 people have the disease

NGUYỄN LY |

HCMC - After 4 years of treatment for schizophrenia, the 24-year-old girl was finally diagnosed with a very rare disease - Wilson's disease.

On November 5, Cho Ray Hospital in Ho Chi Minh City announced that it had successfully treated a case of a particularly rare disease that, according to medical literature, affects only one in 30,000 people.

Ms. N.H.M.T (24 years old, living in Khanh Hoa) has Wilson's disease - a genetic disease caused by gene mutation that leads to copper accumulation in the body, causing damage to multiple organs.

Since 6th grade, T began to show signs of lack of concentration and poor academic performance, even though he had no head injury or history of encephalitis.

T's family took him to the doctor and he was diagnosed with mental retardation, schizophrenia, and medication did not help.

Four years ago, her condition began to worsen with symptoms of headaches, poor concentration, personality changes, being quiet, and limited contact. Later, the patient showed signs of hand tremors, stiff limbs, difficulty walking, and went to a local psychiatric hospital for examination and was diagnosed with schizophrenia.

There was a time when she was treated as an inpatient in a mental hospital, but her condition did not improve and instead worsened. The patient fell into a state of limb convulsions, unable to walk, lying in one place, even having difficulty speaking, having difficulty swallowing food, and frequently choking...

She was admitted to Cho Ray Hospital in a state of near-disability.

Dr. Le Huu Phuoc - Deputy Head of the Hepatitis Department at Cho Ray Hospital, Ho Chi Minh City - said: "After examining the brain and liver images and testing, we diagnosed this as Wilson's disease of the liver and brain, with copper deposited in the patient's liver and brain."

The patient was given copper and zinc excretion drugs, supportive treatment, etc. After 6 months, the patient began to recover. One year later, Ms. T was alert, had good communication skills, ate normally, walked and stood on her own, and was able to do almost normal activities.

Dr. Phuoc said that Wilson is a genetic disease, extremely complicated, difficult to diagnose because the symptoms vary from clinical to laboratory. If not treated, the patient will have copper deposition in the liver causing cirrhosis, acute liver failure, brain damage, etc.

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