Finding the cause of cerebral venous thrombosis in a 2-year-old boy

During the treatment of a child with cerebral venous thrombosis, doctors discovered that the child had a rare genetic disease.

On June 14, Children's Hospital 1 in Ho Chi Minh City announced that it had admitted a 2.5-year-old boy with intracranial venous thrombosis due to a very rare cause.

Before that, the child had symptoms of vomiting after eating about 3-4 times/day, the severity gradually increased. On the 3rd day, the child vomited a lot and was lethargic, had poor communication, so the family took him to the hospital.

At the hospital, the child was found to have moderate weakness in the left side of his body, with brief convulsions accompanied by worsening consciousness, progressing to coma. The team immediately performed endotracheal intubation to help the child breathe.

MRI images of brain thrombosis and lesions in children

Imaging results showed diffuse intracranial venous thrombosis, cerebral edema, and brain damage.

Blood, urine, and genetic tests revealed that the child had a homozygous mutation in the CBS (cystathionine beta-synthase) gene. At this point, the diagnosis was confirmed as homocystinuria.

According to Associate Professor, Doctor, Doctor Phung Nguyen The Nguyen, Head of the Department of Infectious Resuscitation, Children's Hospital 1, this is a rare genetic disorder that causes the body to lose the ability to process certain amino acids, leading to multi-system disorders of connective tissue, muscles, central nervous system and cardiovascular system.

The team continued to actively resuscitate the child with invasive mechanical ventilation, sedation, vasopressors, anti-cerebral edema, and thrombosis treatment. At the same time, the child was started on treatment for the cause with high doses of pyridoxine combined with folate and vitamin B12. A methionine-reduced diet was implemented with the advice of nutritionists.

After more than 2 weeks of treatment, the baby gradually regained consciousness, was taken off the ventilator, the left side weakness gradually improved, and was discharged after 5 weeks in a conscious state, with mild weakness in the left arm.

In the coming time, the patient will continue to be monitored and treated long-term at the genetics - metabolism and neurorehabilitation department.

According to Associate Professor, Doctor, Doctor Phung Nguyen The Nguyen, Head of the Department of Infectious Resuscitation, Children's Hospital 1, this is a case of intracranial venous thrombosis due to a very rare cause in children.

Early diagnosis and timely treatment are decisive factors in a child's long-term neurological prognosis.

TRANSPORTATION

Source: https://www.sggp.org.vn/truy-tim-nguyen-nhan-khien-be-trai-hon-2-tuoi-bi-huet-khoi-tinh-mach-nao-post799452.html