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