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The AAN practice parameter by Ashwal et al. affirms that the diagnosis of cerebral palsy is made by history and neurologic examination. Neuroimaging is recommended but metabolic and genetic studies should not be routinely obtained. Diagnostic testing for coagulation disorders should be considered in hemiplegic children. Screening for associated deficits of mental retardation, ophthalmologic and hearing impairments, speech and language disorders, and oral-motor dysfunction should be included in the assessment.
see page 851
MLC1 mutations in Indian megalencephalic leukodystrophy patients
Gorospe et al. studied 33 patients with clinical and MRI presentations that were consistent with megalencephalic leukoencephalopathy with cysts (MLC). All but one showed mutations in the MLC1 gene. Patients who present with megalencephaly and extensive white matter changes with cysts should be screened for MLC1 gene mutations.
see page 878
The accompanying editorial by Michael J. Noetzel discusses how genomic technology has advanced our ability to delineate previously undiagnosed leukodystrophies and resulted in expansion of the phenotype to include less typical patients. Four examples (table), including the report of Gorospe et al. on MLC1 mutations causing megalencephaly with leukoencephalopathy with cysts, are notable for recognition of adult-onset disorders in what initially appeared to be early-onset diseases of children. MRI has proven to be very helpful in defining leukodystrophies, based on its sensitivity in demonstrating abnormalities of myelin development. Diffusion tensor MRI and MR spectroscopy may enhance the ability to diagnose a leukodystrophy, especially in adults in whom nonspecific white matter abnormalities are frequent.
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see page 847
Incidental findings on brain MRI in adult research subjects
In a retrospective study of 151 adult research brain MRI, Illes et al. found that 6.6% of the healthy volunteers had a lesion requiring referral. Their results suggest that standards of practice are needed for guiding investigators in managing and communicating the discovery of such unexpected abnormalities.
see page 888
The accompanying editorial by Grossman and Bernat notes that in the Illes et al. study most of the findings were not necessarily reported to the participants. This problem highlights issues associated with imaging research. First, some MR research—particularly fMRI—is performed by scientists who are not skilled at image interpretation. Thus incidental findings may not be detected under the designed protocol. What is the added cost of having an imager view and report the findings? It seems small in comparison to the price one pays for not detecting important lesions. Second, what is standard technique for a researcher may not be sufficient for an imager. This limitation should be stated in the informed consent. Third, if an abnormality is detected, who should receive the results and in what setting should they be discussed? Fourth, investigators must be educated concerning incidental findings. Finally, rules of ethics require that disclosure in the consent to enter a study include those relative to finding incidental pathology. In a brain fMRI study, the risks are not simply the trivial risks of undergoing an fMRI.
see page 849
Nasal sumatriptan is effective in pediatric migraine
In a placebo-controlled crossover trial, Ahonen et al. studied efficacy of nasal sumatriptan in 94 migraine patients age 8 to 17 years. Sumatriptan was superior to placebo within 30 minutes postdose. Their results suggest that nasal sumatriptan is an effective and well-tolerated treatment for migraine attacks in children over 8 years of age.
see page 883
Imaging for carotid endarterectomy
Kennedy et al. used an expert panel to determine the appropriateness of arterial imaging for various carotid endarterectomy scenarios. Despite the trend toward using noninvasive imaging, angiography remained the gold standard and single noninvasive study deemed appropriate for severe symptomatic stenosis.
see page 901
Depression and stroke
Verdelho et al. found that 43% of stroke patients had depressive symptoms at 6 months, 36% at 12 months, 24% at 24 months, and 18% at 36 months. The age, severity of deficit, and location of lesion affected the proportion of depressed patients. The time course of symptoms depended on the cognitive status.
see page 905
Cognitive changes and stroke
Sachdev et al. studied 170 stroke or TIA patients vs 96 controls obtaining neuropsychological assessments and MRI scans (in 67%). The cognitive deficits in vascular dementia and vascular cognitive impairment were characterized by disturbance of frontal functions, with less verbal memory impairment. VaD and VCI differ in severity but not pattern of disturbance. The brain lesions that best account for these deficits are noninfarct ischemic subcortical white and gray matter changes.
see page 912
Smoking and cognitive decline at older age
Ott et al. tested cognition in 11,003 nondemented elderly, retesting the subjects an average of 2.3 years later. They report that the adjusted mean decline in Mini-Mental State Examination was significantly higher in smokers (0.16/year) than nonsmokers (0.03/year). The difference was similar in both sexes. Degree of decline was cigarette-dose-dependent.
see page 920
Mycoplasma-associated axonal Guillain-Barré syndrome
Susuki et al. found molecular mimicry between GM1 ganglioside and Mycoplasma pneumoniae, reporting a patient who developed axonal Guillain-Barré syndrome associated with anti-GM1 antibodies after Mycoplasma infection.
see page 949
Statin use and stroke outcomes in the Heart and Estrogen-progestin Replacement Study (HERS)
Bushnell et al. studied a large cohort of women enrolled in HERS and show that while statin use was associated with a trend toward lower rates of fatal strokes, there was no association with nonfatal stroke rates.
see page 968
Clinical spectrum of mevalonate kinase deficiency: A continuum?
Five patients reported by Simon et al. illustrate the continuous spectrum of mevalonate kinase deficiency. The authors suggest that this diagnosis should also be considered in adults.
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see page 994
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