Clinical and cUS and MRI findings in different groups of metabolic disorders
| Diagnosis | Clinical findings |
Characteristic cUS findings | Findings added by MRI | |||
|---|---|---|---|---|---|---|
| Poor responsiveness | Hypotonia | Early seizures | Poor feeding | |||
| Oxidative phosphorylation disorders (n = 21; MRI, n = 12) | 18 (86%) | 14 (67%) | 10 (48%) | 15 (71%) | VD (n = 11; 52%) | Delayed myelination (n = 3, 25%) |
| GLCs; abnormal WM (n = 7; 33%) | Abnormal brainstem (n = 2, 17%) | |||||
| LSV; widened ECS/IHF (n = 5, 24%) | Loss of grey/WM differentiation; large subarachnoid space; intraventricular haemorrhage; abnormal SI in WM; decreased WM volume; abnormal SI in BGT; abnormal hippocampus; abnormal SI in choroid plexus (n = 1, 8%) | |||||
| Abnormal cortical folding; small cerebellum; abnormal BGT (n = 4, 19%) | ||||||
| Thin corpus callosum (n = 3, 14%) | ||||||
| Peroxisomal biogenesis disorders (n = 13; MRI, n = 9) | 12 (92%) | 12 (92%) | 10 (77%) | 8 (62%) | GLCs; VD (n = 10, 77%) | Abnormal/delayed myelination (n = 6, 67%) |
| Abnormal cortical folding; LSV (n = 8, 62%) | Abnormal SI in WM (n = 3, 33%) | |||||
| Abnormal BGT (n = 4, 31%) | Migrational disorder; decreased WM volume (n = 1, 11%) | |||||
| Absent hin corpus callosum; patent CSP (n = 3, 23%) | ||||||
| Amino acid metabolism and urea cycle disorders (n = 14; MRI, n = 11) | 11 (79%) | 14 (100%) | 13 (93%) | 13 (93%) | Abnormal cortical folding (n = 9, 64%) | Delayed myelination (n = 5, 45%) |
| Abnormal WM (n = 8, 57%) | Cortical highlighting (n = 3, 27%) | |||||
| Abnormal corpus callosum (n = 7, 50%) | Punctate WM haemorrhage; abnormal brainstem (n = 2, 18%) | |||||
| Unusually shaped lateral ventricles (n = 5, 36%) | Abnormal SI in cerebellum; subdural haemorrhage (n = 1, 9%) | |||||
| Abnormal BGT (n = 4, 29%) | ||||||
| Small cerebellum; widened ECS/IHF (n = 2, 14%) | ||||||
| Organic acid disorders (n = 4; MRI, n = 2) | 4 (100%) | 3 (75%) | 1 (25%) | 2 (50%) | Echogenic periventricular WM (n = 2, 50%) | Delayed myelination; abnormal SI in globus pallidus (n = 1, 50%) |
| Other disorders (n = 3; MRI, n = 1) | 3 (100%) | 1 (33%) | 0 (0%) | 0 (0%) | Lateral VD (n = 2, 67%) | None |
Note:—Clinical findings are given in number of infants (percentage in group). n indicates number of examinations; VD, ventricular dilatation; GLC, germinolytic cyst; WM, white matter; LSV, lenticulostriate vasculopathy; ECS, extracerebral space; IHF, interhemispheric fissure; BGT, basal ganglia and thalami; SI, signal intensity; CSP, cavum septum pellucidum.