Abstract
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.
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