Question
At four months old, the baby was found to have hand tremors while sucking on their fingers. A CT scan diagnosed brain maldevelopment and deepening of brain grooves. After taking vitamin B12, symptoms of low body temperature persisted, and treatment with rat semen did not show improvement. After genetic metabolic disease testing, it was confirmed that the child has an inherited metabolic disorder, which has already caused brain damage, affecting visual and auditory nerve development. By three months old, the child’s hearing and vision abilities have disappeared. At six months old, the child cannot hear, see, recognize people, roll over, or smile. They are easily drowsy, occasionally tremble, and have abnormal EEG readings but do not have seizures. Inquire about the correct treatment method and prognosis.
Answer
Based on the child’s examination results and clinical presentation, a diagnosis of methylmalonic aciduria is basically established. The current treatment using adenosylcobalamin alone is insufficient and requires comprehensive treatment including intramuscular B12 injections, special formula milk therapy, and checking homocysteine levels in the blood. Some children respond well to B12 treatment and can improve their intellectual and motor abilities. However, due to the early onset of the disease and existing nervous system damage, the degree of recovery cannot be determined. Moreover, this disease is an autosomal recessive inheritance, and if considering further childbearing, it is advisable to determine the child’s genetic mutation as soon as possible for typing, diagnosis, and future prenatal diagnosis and prevention measures.