Test |
Result |
uric acid/serum |
not detectable |
homocysteine/serum |
<1.00 umol/L |
Sulfite dipstick |
positive |
brain US
|
3rd day after birth -
vague brain structure
marginal widening of the occipital corners of both lateral ventricles
(normal Evans index)
slightly accelerated flows in the sagittal sinus
4th week of life –
extensive malacic lesions within the frontal and parietal cortex
symmetrically with prevalence on the right side and hyperechogenic areas
around tegmentum and globus pallidus bilaterally
2nd month of life–
extensively disseminated porencephaly within the hemispheres and the
subcortical regions - extensive disseminated brain necrosis and
low-pressure hydrocephalus
|
brain MR
(5th day after birth, Figure 1)
|
cerebellar hypoplasia and dilated cerebellar fluid spaces
slightly enlarged cerebral fluid spaces in the left temporal region
a discrete band of enhanced signal in T1-dependent images and FLAIR
within one of the grooves of the left frontal lobe (after the bleeding?)
the supratentorial ventricular system symmetrically widened within the
lateral ventricle (Evans index - 0.36)
|
EEG
|
neonatal period -
localized changes with a tendency to generalize
2nd month of life–
almost continuous right- or left-sided localized burst-suppression
pattern
|
ECHO |
hypertrophic cardiomyopathy, non-restrictive |
other
|
elevated levels of troponin and NT-proBNP,
hypothyroidism
|