Patient's question:
At four months, it was discovered that the baby's hands would shake when eating. A visit to the hospital revealed a CT scan indicating developmental abnormalities and deepened brain grooves. Vitamin B12 was prescribed. At four and a half months, the family came to Kunming, where it was diagnosed as developmental brain issues. The baby underwent 20 sessions of hyperbaric oxygen therapy and 20 injections of ganglioside. Low body temperature was observed, after which the treatment was changed to mouse nerve extract, with less than 10 injections administered. However, no improvement was seen, and the doctor recommended genetic metabolic testing. The result was a genetic metabolic disorder. Brain damage had already occurred, with both visual and auditory nerves underdeveloped. At three months, the baby could see and hear, but now at six months, it cannot hear, see, recognize people, roll over, or smile. The baby loves to sleep, trembles, and has abnormal EEG results but does not experience seizures.Doctor's answer:
Based on your child's test results and clinical manifestations, the diagnosis of methylmalonic acidemia is basically confirmed. Treatment cannot be resolved simply by taking adenosylcobalamin. Standardized treatment is required, such as intramuscular B12 injections, special formula milk, and checking whether homocysteine levels in the blood are elevated. Some children respond well to B12 treatment, showing improvement in intelligence and motor skills. However, your child's condition was diagnosed at an early stage, and there is already neurological damage. The extent of recovery cannot be determined.Additionally, this disease is an autosomal recessive genetic disorder. If you and your spouse have more children, there is still a risk involved. It is necessary to identify the genetic mutation in the affected child as early as possible. This can further subdivide the condition, clarify the diagnosis, and prepare for future prenatal diagnosis and prevention of similar births.