Lateralized clinical and diffusion-weighted MRI abnormalities in a probable case of sporadic Creutzfeldt-Jakob disease.

The usual clinical profile of sporadic Creutzfeldt-Jakob disease (sCJD) is subacute dementia, motor dysfunction and myoclonus. Occasionally, some patients present atypical clinical features. We report a case of probable sCJD in a 73-year-old man with a rapidly progressive lateralized neurologic dysfunction of the left hemisphere. In a few weeks the clinical picture deteriorated dramatically to akinetic mutism and myoclonus. The 14-3-3 protein was positive in the cerebrospinal fluid. Diffusion-weighted (DWI) magnetic resonance imaging (MRI) revealed increased signal in the left cortical ribbon and deep gray matter corresponding to the clinical lateralization. He died 9 weeks after onset, autopsy was not performed. This case illustrates the correlation between the lateralized clinical and DWI MRI abnormalities in sCJD.

MRI in children with mental retardation.

BACKGROUND: In mental retardation (MR) an aetiological diagnosis is not always obtained despite a detailed history, physical examination and metabolic or genetic investigations. In some of these patients, MRI is recommended and may identify subtle abnormal brain findings. OBJECTIVE: We reviewed the cerebral MRI of children with non-specific mental retardation in an attempt to establish a neuroanatomical picture of this disorder. MATERIALS AND METHODS: Thirty children with non-specific MR were selected to undergo cerebral MRI. The examination included supratentorial axial slices, mid-sagittal images and posterior fossa coronal images. Brain malformations, midline and cerebellar abnormalities were studied. RESULTS: In 27 of 30 patients, the neuroimaging evaluation revealed a relatively high incidence of cerebral and posterior fossa abnormalities. The most frequent were: dysplasia of the corpus callosum (46%; hypoplasia, short corpus callosum and vertical splenium), partially opened septum pellucidum and/or cavum vergae (33%), ventriculomegaly (33%), cerebral cortical dysplasia (23%), subarachnoid space enlargement (16.6%), vermian hypoplasia (33%), cerebellar and/or vermian disorganised folia (20%), and subarachnoid spaces enlargement in the posterior fossa (20%). Other anomalies were: enlarged Virchow-Robin spaces (10%), white matter anomalies (10%) and cerebellar or vermian atrophy. CONCLUSIONS: MRI has shown a high incidence of subtle cerebral abnormalities and unexpected minor forms of cerebellar cortical dysplasia. Even if most of these abnormalities are considered as subtle markers of brain dysgenesis, their role in the pathogenesis of mental retardation needs further investigation.