Disease OMIM Protein/gene Main clinical symptoms MRI Prognosis [OMIM] Isovaleric aciduria 243500 Isovaleryl CoA dehydrogenase- IVD Acute: feeding refusal or aversion to protein, lethargy evolving to coma (due to dehydration…
Fig. 14.1 Cerebral form of X-linked adrenoleukodystrophy, c-ALD. MRI axial T2-weighted images (a, b) show marked bilateral symmetrical hyperintensity in the splenium of the corpus callosum and in the adjacent…
Fig. 11.1 MS, acute phase. T2-weighted image, (a, c) demonstrate focal hyperintensities in the left pons and in the white matter of the right hemisphere, respectively; note, edema around the…
Fig. 25.1 Astrocytomas grade II. Axial MRI images show a lesion hyperintense in T2 sequences without mass effect (a), slightly hypointense in T1 sequences (b) without contrast enhancement (c) located…
Fig. 36.1 Orthostatic hypotension and survival. This Kaplan-Meyer curve shows that patients with persistent orthostatic hypotension have a significantly shorter survival rate compared to those with no or mild orthostatic…
Electro-clinical syndromes arranged by age at onset a Neonatal period Benign familial neonatal epilepsy (BFNE) Early myoclonic encephalopathy (EME) Ohtahara syndrome Infancy Epilepsy of infancy with migrating focal seizures West…
Pathogen Overall mortality rate in uncomplicated meningitis Overall mortality rate in complicated meningitis Residual disability essentially encountered in infants N. meningitidis S. pneumoniae H. influenzae L. monocytogenes 6 % 13.5…
Fig. 21.1 ALS. In (a) and (b) T2-weighted images demonstrate slight hyperintensity along cortico-spinal tracts (arrows). In (c), note a slight hypointensity in both Rolando’s cortex (arrowheads) No specific biomarker…
Fig. 26.1 NF1. Coronal and axial T2-weighted images (a–d) show multiple, asymmetric plexiform neurofibromas of the bilateral brachial plexuses and of bilateral lumbar plexuses. Note the confluent aspect of the…
