On June 14, Children's Hospital 1 announced that it had received a severe case of intracranial thrombosis due to Homocystonia nieu (Homocystinuria). This is a rare genetic disorder, causing the body to lose the ability to process certain amino acids, leading to multiple system disorders of connective tissue, muscles, central nervous system and cardiovascular system.
The patient was in a coma and needed an evacuation machine. After that, the child responded well and recovered after treatment.
The patient was a boy (2 years old), admitted to the hospital on the 3rd day of the disease with symptoms of initially vomiting after eating about 3-4 times/day. After that, the vomiting gradually increased. The family saw the child vomiting many times and was wonky and had poor contact, so they took the child to the hospital.
Before the outbreak of the disease, the child had no fever, no history of head injuries and had never been hospitalized before. Clinical examination at the time of admission, the child was weak, had moderate left-sided weakness, and had no signs of cerebral decay.
After being admitted to the hospital, the child began to have short seizures in the left half of the body accompanied by worsening perception, leading to a coma requiring intubation to help breathe. A CT scan of the skull recorded right hemolide attack with surrounding cerebral edema, thrombosis spreading to the cerebral cortical vein, endoscopic vein, extending to the common left vein, the mediastinal line shifting to the left.
The MRI scan of the skull also recorded images of an attack with bleeding in the right thianum, right artichoke, bottleneck, white matter next to the two benal brains, the center of the ovaries on both sides and the circulating endorsental venous thrombosis. Blood tests showed homocystina in the blood to be significantly elevated, and homocystina in the urine also increased.
Genetic testing detecting a protein CBS (cystathionine beta- synthase) mutation determined to diagnose homocysthania.
The child was actively resuscitated by invasive ventilation, sedation, vasopressors, anti-encepathy, and thrombotherapy with enoxaparin, then transferred to rivaroxaban. At the same time, children are starting to treat the cause with high doses of pyridoxin combined with folate and vitamin B12. The diet to reduce methionin is implemented with the advice of a nutritionist.
After more than 2 weeks of treatment, the child gradually woke up, was taken off the ventilator, and the weakness of the left hemisphere gradually improved. The child was discharged after 5 weeks in a state of complete alertness, with a weak left hand. In the coming time, children will continue to monitor and treat them for long-term treatment.
Associate Professor, Dr. Phung Nguyen The Nguyen - Head of the Department of Resuscitation and Infectious Diseases, Children's Hospital 1 - said that this is a case of endoscopic thrombosis due to a very rare cause in children. Early diagnosis and timely treatment are decisive factors for a child's long-term neurological prognosis.
Endocrinoscopic thrombosis, also known as cerebral venous thrombosis, is a condition in which a blood clot forms in the venous system that carries blood from the brain. Although rare, this is a notable cause of stroke in children.
The estimated incidence of the disease is about 0.67/100,000 children per year, with a mortality rate of up to 10% and about 40% of survivors with neuropathy sequelae.
