Teaching NeuroImages: Figure of 8: The clue to the diagnosis of AMPD2 pontocerebellar hypoplasia (PCH9)

A 2-year-old girl, born after uneventful pregnancy from healthy nonconsanguineous parents, presented with failure to thrive, microcephaly, facial dysmorphism, strabismus, nystagmus, axial hypotonia, lower limb spasticity/hyperreflexia, dystonic movements, and no active postures. Since the first months of life, developmental delay without any motor skills acquisition, drug-resistant epilepsy, and progressive spasticity had emerged. Neuroimaging revealed pontocerebellar hypoplasia with the figure of 8 midbrain appearance (figure), a distinctive sign for PCH8 or AMPD2 deficiency.1,2 Sanger sequencing of the adenosine monophosphate deaminase 2 enzyme gene (AMPD2) revealed the first compound heterozygous mutation (c.1664C>T; c.1112+1 G>A). The patient died at age 3 years due to respiratory insufficiency.

Source: Neurology - October 2, 2017 Category: Neurology Authors: Severino, M., Zara, F., Rossi, A., Striano, P. Tags: MRI, All Clinical Neurology, All Pediatric, All Genetics RESIDENT AND FELLOW SECTION Source Type: research