Early detection of tubular sclerosis in infants

NGUYỄN LY |

Ho Chi Minh City - May 5, Children's Hospital 2 said it had just detected early a case of tuberculous sclerosis, a rare genetic disorder.

When ultrasound was performed at week 22, the patient was found to have small tumors in the heart. After giving birth, the patient was transferred to Children's Hospital 2 for treatment.

Here, doctors determined that although the vital signs were stable, damage caused by small tumors in the heart still existed, forcing doctors to continue monitoring and finding the cause.

Through cardiac ultrasound, doctors determined that the baby had many benign heart muscle tumors. However, this is also a suggestive sign of tuberculous sclerosis, a disease that can affect many organs in the body.

For accurate diagnosis, the patient underwent a series of in-depth examinations such as abdominal ultrasound, electrocardiogram, skin examination, eye examination and brain magnetic resonance imaging (MRI). The results recorded nodules in the brain, consistent with tuberculous sclerosis diagnosis. The patient's family was then advised to undergo gene testing and screening for members.

According to doctors, tuberculous sclerosis is a rare disease with a incidence rate of about 1/6,000 to 1/10,000 living children, but can cause many serious complications such as epilepsy, retarded development and difficulties in learning if not detected early.

This case has undergone multi-specialized consultation including neonatal, cardiovascular and neurological to develop a long-term monitoring plan. Currently, the patient has stabilized, been discharged from the hospital and scheduled for regular check-ups at the high-risk child monitoring clinic.

Experts emphasize that early detection of abnormal signs, even very small ones, is important in timely intervention, helping to improve the prognosis and quality of life for patients, especially with hereditary diseases.

NGUYỄN LY
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