Patient's question:
CT shows: patchy low-density areas in both frontal, temporal, parietal, and occipital lobes. The margins are blurred. The midline structures show no deviation. The shape, size, and position of the ventricular system appear normal. No significant abnormalities are observed in the lateral sulci or cerebral fissures. Born with respiratory distress syndrome. Not a premature infant. Hospitalized for 14 days after birth at 30 minutes. No asphyxia. Currently, follow-up brain imaging shows shadows. Currently, there is significant fear. Currently receiving intravenous administration of "Ganglioside Monosialotetrahexoside Sodium for Injection" to nourish brain cells.Doctor's answer:
Hello. Genetic metabolic disease screening, as the name suggests, is a screening for a category of diseases, which are called genetic metabolic diseases. This is a broad category of diseases that can be divided into many smaller ones, but the common and treatable ones include phenylketonuria. Other major metabolic substances can also be affected, such as amino acids, organic acids, glycogen, and so on. These diseases, if they appear in the neonatal period, generally show symptoms such as abnormal muscle tone, feeding difficulties, abnormal growth and development, and so on.Medical Advice: Currently, the baby is only about a month old. Based on the descriptions above, it is still not possible to diagnose cerebral palsy. However, the history of respiratory distress syndrome suggests that you should pay attention and seek timely treatment. Early treatment is very meaningful for preventing the occurrence of sequelae. It is not advisable to wait until sequelae appear before treating them, as that would make the treatment more difficult, more expensive, and less effective.
Regarding genetic metabolic disease screening, if there are no typical symptoms and other treatments are effective, it may not be necessary to perform the screening at this time.