Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation.
Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative disorder characterized by infantile onset and rapid progression of psychomotor regression and hypotonia evolving into spasticity. The neuroradiologic hallmark of the disease is represented by cerebellar atrophy and signal hyperintensity in the cerebellar cortex on MR T2-weighted images. We report a 2-year-old boy with psychomotor regression and hypotonia carrying a homozygous 5' splice site mutation in PLA2G6 gene, whose brain MRI revealed cerebellar atrophy with normal cerebellar cortex signal intensity. The absence of the signal hyperintensity of the cerebellar cortex does not rule out the diagnosis of INAD.
Biancheri
Roberta
R
Muscular and Neurodegenerative Disease Unit, University of Genova, Istituto G Gaslini, Largo G Gaslini 5, Genova, Italy. roberta@biancheri.com
Rossi
Andrea
A
Alpigiani
Giannina
G
Filocamo
Mirella
M
Gandolfo
Carlo
C
Lorini
Renata
R
Minetti
Carlo
C
D001284:Atrophy; D002531:Cerebellum / Q000473:pathology*; D002675:Child, Preschool; D054522:Group VI Phospholipases A2; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics*; D019150:Neuroaxonal Dystrophies / Q000235:genetics* / Q000473:pathology*; D010741:Phospholipases A / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics
D022821:RNA Splice Sites; D010741:Phospholipases A; D054522:Group VI Phospholipases A2; C516475:PLA2G6 protein, human