A Case of Infantile Neuroaxonal Dystrophy

ABSTRACT

We herein report a case of infantile neuroaxonal dystrophy (INAD) with protracted course. The 3 year old patient suffered from ataxia, gait disturbance, oculomotor disturbance, psychomotor regression and bilateral pyramida l tract signs since the age of two. Similar neurological symptoms occurred in his elder brother, beginning at the age of one, who eventually died at the age of four. Magnetic Resonance Imaging (MRI) of the patient showed progressive atrophy of cerebral cortex and cerebellum with diffusely increased T2 signal in bilateral cerebellar hemisphere. The patient's brother revealed similar findings. MRI of the suspected cases may facilitate early diagnosis of INAD, and since it is a well-established autosomal recessive neurodegenerative disaese, early and appropriate genetic counseling of the parents is required.