Aromatic L-amino acid decarboxylase deficiency
Aug. 03, 2023
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These images, obtained from children with serologically confirmed congenital LCMV infection, demonstrate that congenital LCMV infection can affect a variety of brain regions and lead to a diverse set of pathologic changes. Each of these pathologic changes can be reproduced in the rat model of congenital LCMV by infecting the animal at different ages (Bonthius et al 2007a). [A] Head CT scan demonstrating ventriculomegaly and periventricular mineralizations (arrows). The child is also microcephalic. This combination of microcephaly and periventricular mineralizations is the most common neuroimaging finding in congenital LCMV. [B] In some patients with congenital LCMV infection, the mineralizations are not only periventricular (arrow), but also intraparenchymal (double arrowhead). [C] Coronal T1-weighted MRI scan demonstrating obstructive hydrocephalus, with enlargement of the body of the lateral ventricles (L), third ventricle (3), and temporal horn of the lateral ventricle (T). [D] Parasagittal T1-weighted MRI scan demonstrating a smooth and featureless cerebral cortex (arrow) with a paucity of cortical sulci, strongly suggestive of a neuronal migration disturbance. [E] CT scan demonstrating a large area of encephalomalacia (asterisk) in the frontal lobe, reflective of a focal destructive lesion. Intraparenchymal mineralizations are also present (arrow). [F] Sagittal T1-weighted MRI scan demonstrating isolated cerebellar hypoplasia (arrow). [G] Sagittal T1-wieghted MRI scan demonstrating microencephaly. The cortical gyri are small and are separated by prominent sulci. [H] Coronal T1-weighted MRI scan with abnormal hypo-intense signals (arrows) adjacent to the lateral ventricles. [I] Enlarged area within [H] demonstrating that the abnormal signals are due to periventricular cysts (arrows). (Contributed by Dr. Daniel Bonthius.)