A 2-year-old boy meeting the criteria for autistic disorder was diagnosed 2 years later with a visual agnosia characterised by a combination of certain aspects of associative and apperceptive agnosia. MRI then revealed a severe encephalomalacia of the right temporal lobe and bilateral temporo-occipital areas. This association is discussed in terms of a… (More)
This study defines the clinical characteristics and evolution of 16 epileptic children with hippocampal asymmetry (HA) without sclerosis on MRI. The association of a positive family history of epilepsy (11/16), low incidence of febrile seizures (2/16), and benign prognosis (seizure control in monotherapy in 11/16, mean follow-up = 4.3 years, range 1 to 10)… (More)
We report two patients with transient visual symptoms after an acute illness (hypoglycemia and head trauma) who went on to develop a progressive neurodegenerative disease (adrenoleukodystrophy). This report supports the suggestion that environmental factors play a role in the initial expression of the disease and reviews atypical visual manifestations of… (More)
Dominant mutations in TUBB2B have been reported in patients with polymicrogyria. We further explore the phenotype associated with mutations in TUBB2B. Twenty patients with polymicrogyria (five unilateral) were tested for mutations in TUBB2B by Sanger sequencing. We identified two novel de novo mutations, c.743C>T (p.Ala248Val) and c.1139G>T (p.Arg380Leu) in… (More)
OBJECTIVE To investigate whether secondary impairment of the transmethylation pathway is a mechanism underlying the neurologic involvement in homocystinuria due to remethylation defects. METHODS Twelve patients with neurologic disease due to remethylation defects were examined by brain magnetic resonance spectroscopic imaging ((1)H MRSI). Brain… (More)
Ultrasound appears to be a promising tool for assessment of the state of the dura in patients suffering from a diastatic skull fracture. Our goal is to identify patients who are at a high risk of developing the complications associated with this type of fracture as early as possible in order to keep the neurosurgical repair as simple as possible.