Table 1.
The timeline of diagnoses and interventions.
| Time | Symptoms | Examination | Intervention |
|---|---|---|---|
| Be born | Natural delivery | - | Mixed fed |
| 5th day | Getting cold | Chest CT: Normal | - |
| 8th day | Scattered pustules, poor response and intake | Lab exam: LBS, metabolic acidosis, abnormal blood routine | Symptomatic treatments |
| 9th day | Worse | Brain DWI-MRI: symmetrical high signal intensity CSF detection and plasma PCT: Normal | Anti-infection, IV Glu, fasted, IV mannitol |
| 10th day | Worse | GMD Blood and urine MS/MS detection: MSUD | Milk without BCAA fed |
| 17th day | Better | GMD gene detection: loss BCKDHB | - |
| Two years | Stable, growth slowly | - | Liver transplant 1 year before |
BCKDHB = branched chain keto acid dehydrogenase E1 beta polypeptide, CT = computed tomography, CSF = cerebrospinal fluid, DWI-MRI = diffusion weighted imaging-magnetic resonance imaging, Glu = glucose, GMD = genetic metabolic diseases, IV = intravenous, LBS = low blood sugar, MS/MS = tandem mass spectrometry, MSUD = maple syrup urine disease, PCT = plasma procalcitonin.