Is it Lactic Acidemia or Another Genetic Metabolic Disorder?

A child who was unable to roll over and had weak neck muscles since 5 months of age. At 12 months, the child began to make sounds and crawl quickly; at 18 months, they started learning to sit and could stand against the wall but not for long, with poor balance. The child underwent the following examinations at Guangzhou Children’s Hospital: brain CT (normal plain scan), lumbar spine X-ray (normal plain scan), GCMS analysis showed large amounts of succinate, moderate amounts of pyruvate, lactate, and small amounts of fumarate in urine, MR imaging showed bilateral ventriculomegaly, karyotyping did not reveal any abnormalities, blood lactate was elevated (1.8), blood ammonia was normal (22), plasma acylcarnitine analysis showed elevated levels of amino acids such as glutamine, mitochondrial encephalomyopathy gene testing did not find the A3243G (MELAS), A8344G (MERRF), T8993G/C (LS) mutations. Please diagnose and treat.
One minute to read

Is It Necessary to Check a Child’s Dizziness?

Is it necessary to check a child’s dizziness? The child was violently shaken by their father about two weeks ago, with particular emphasis on the head. The child experienced dizziness for a few seconds after the shaking, and later had vomiting once, two days later. Apart from those days, the child has been crying a lot but is easily comforted, and they also sleep well. Eating and drinking are normal. There are no other symptoms. Recently, I saw online that children should not be shaken recklessly, especially the head. However, in that case, the child’s head was indeed shaken. Should I take the child for a thorough check-up based on what I’ve described? Also, the child has been zoning out occasionally in the past two days. That’s all the symptoms are.
2 minutes to read