The Analysis of Genetic Aberrations in Children with Inherited Neurometabolic and Neurodevelopmental Disorders
Table 3
The results of MRI imaging, EEG, and metabolic testing in all enrolled subjects.
Patient number
Brain ultrasound
Brain MRI
EEG
Biochemical diagnostics tests abnormalities
Patient 1
Not performed
At the age of 5 yr T2-hyperintense changes of the periventricular white matter around the centre of the body of the lateral ventricles. 18 yr—normal
Generalized spikes and spike-and-wave discharges (2.5–5 Hz) as well as focal spikes
Not found
Patient 2
12 mo.—dilatation of the lateral ventricles (11 and 14 mm)
Not performed
Not performed
Hypogammaglobulinemia; mild elevation of alpha-fetoprotein (13 IU, reference value up to 5.5 IU).
Patient 3
Dilatation of the lateral ventricles
Dilatation of the lateral ventricles
Normal
Not found
Patient 4
Normal
10 mo abnormal-mild thinning of the corpus callosum and delayed white matter myelination
Ictal activity in the form of slow waves with sharp waves and spikes
Strong signal of 2-ketoglutaric acid in urine; elevation of alpha-fetoprotein (13 IU/normal up to 5.5 IU/).
Patient 5
Not performed
Normal
Normal
Not found
Patient 6
Not performed
Normal
Normal
Decreased concentrations of HVA and 5-HIAA in CSF. Pterine profile in urine—very low concentration of neopterin and biopterin, below the reference range: 0.16 mmol/mol creat (ref. range: 0.3–4.0) and 0.27 mmol/mol creat (ref. range: 0.5–3.0), respectively. Phenylalanine loading test in blood—Phe concentration and Phe to Tyr ratio significantly increased after 1 h, 2h, and 4 h.
Patient 7
Not performed
T2-hyperintense changes of the periventricular white matter and cerebellar white matter
Not performed
-galactocerebrosidase—in two different samples of blood leukocytes revealed 2.1 and 2.0 nmol/mg protein/18 hr, respectively (reference values: 4–9.4 nmol/mg protein/18 hr; in patients with Krabbe disease below 2.0 nmol/mg protein/18 hr). In cultured skin fibroblasts: 3.7 nmol/mg protein/18 hr (reference values 3.9–15.2 nmol/mg protein/18 hr).
