MRI as an aid for diagnosis of infantile neuroaxonal dystrophy

We experienced a 5-year-old girl, who had presented with nystagmus and psychomotor regression since 1 year old. No clinical diagnosis had been made despite various examinations including lysosomal enzymes and muscle biopsy. Her brain magnetic resonance imaging (MRI) revealed increased a T2 signal in...

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Bibliographic Details
Published inNo to hattatsu Vol. 24; no. 5; p. 491
Main Authors Ishii, M, Tanabe, Y, Goto, M, Sugita, K
Format Journal Article
LanguageJapanese
Published Japan 01.09.1992
Subjects
Age Factors
Axons - pathology
Brain Diseases - diagnosis
Brain Diseases - genetics
Brain Diseases - pathology
Cerebellum - pathology
Child, Preschool
Female
Genes, Recessive
Humans
Magnetic Resonance Imaging
Nerve Degeneration
Peripheral Nerves - pathology
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ISSN0029-0831
DOI10.11251/ojjscn1969.24.491

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Summary:We experienced a 5-year-old girl, who had presented with nystagmus and psychomotor regression since 1 year old. No clinical diagnosis had been made despite various examinations including lysosomal enzymes and muscle biopsy. Her brain magnetic resonance imaging (MRI) revealed increased a T2 signal in bilateral cerebellar hemisphere. Recently this MRI finding was reported as a typical feature of infantile neuroaxonal dystrophy (INAD). Then we performed the second biopsy from her peripheral nerve, and diagnosed her as having INAD. It was suggested that MRI was a useful aid for the diagnosis of INAD.
ISSN:0029-0831
DOI:10.11251/ojjscn1969.24.491