Psychiatric disease in an adolescent as a harbinger of cerebral X-linked adrenoleukodystrophy.

X-linked adrenoleukodystrophy (XALD) typically presents as a childhood cerebral demyelinating form, as an adult-onset adrenomyeloneuropathy or as adrenocortical insufficiency. Cerebral demyelination presenting in adolescence is unusual. We present an 17-year-old boy with adolescent-onset XALD initially manifesting with slowly progressive psychiatric symptoms. He was initially diagnosed with attention-deficit hyperactivity disorder and an acute psychosis. However, he was ultimately diagnosed with XALD based on his clinical course, neuroimaging findings and biochemical abnormalities. This case reiterates the atypical presentations of adolescent-onset cerebral XALD that may go unrecognised and misdiagnosed as a neurodevelopmental or psychiatric disease. Treatments for cerebral ALD are potentially life-saving, particularly when given early in the disease course.

Pediatric Resident Confidence in Assessing Neurological Cases: A Nationwide Survey.

BACKGROUND: A relative shortage of pediatric neurologists in proportion to estimated neurological disorders often results in general pediatricians evaluating and treating children with complex neurological conditions. Dedicated rotations in pediatric neurology are not mandated during medical school or pediatric residency. We evaluated the perceptions of a large cohort of pediatric residents and program directors (PDs) regarding child neurology training. METHODS: Using an online tool, surveys were sent to pediatric residents and pediatric and pediatric neurology PDs. RESULTS: Response rates were 41% from pediatric residency programs, yielding 538 resident responses; 31% from pediatric PDs; and 62% from pediatric neurology PDs. Only 27% of the surveyed residents reported completing a neurology rotation during residency, 89% of whom expressed a subjective improvement in confidence with neurological assessments. Factors affecting comfort with eliciting a neurological history included exposure to a neurology rotation during residency, year of training, duration of neurology rotation in medical school, and inpatient exposure to neurological patients, whereas those associated with examination additionally included program size and postresidency plans. Overall, 80% of surveyed residents, 78% of pediatric PDs, and 96% of pediatric neurology PDs acknowledged the potential value of a mandatory pediatric neurology rotation during residency. CONCLUSION: We suggest that a mandatory pediatric neurology rotation will boost the confidence of current and future pediatric trainees in assessing common neurological conditions of childhood.

Evaluation of basal ganglia and thalamic inflammation in children with pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection and tourette syndrome: a positron emission tomographic (PET) study using 11C-[R]-PK11195.

We applied PET scanning with (11)C-[R]-PK11195 (PK) to evaluate neuroinflammatory changes in basal ganglia and thalamus in children with clinically diagnosed pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection (PANDAS) and Tourette syndrome. Seventeen children with PANDAS (mean age: 11.4 ± 2.6 years; 13 males), 12 with Tourette syndrome (mean age: 11.0 ± 3.0 years; 10 males), and 15 normal adults (mean age: 28.7 ± 7.9 years; 8 males) underwent dynamic PK PET imaging and binding potential, a measure of ligand-TSPO receptor (expressed by activated microglia) binding, was calculated for basal ganglia and thalamus. Binding potential values, suggesting underlying activated microglia-mediated neuroinflammation, were found to be increased in bilateral caudate and bilateral lentiform nucleus in the PANDAS group and in bilateral caudate nuclei only in the Tourette syndrome group, compared to control group. These differences in the pattern and extent of neuroinflammation also signify a possible difference in pathophysiological etiology between PANDAS and Tourette syndrome patients.

A behavior analysis of absolute pitch: sex, experience, and species.

Absolute pitch (AP) perception refers to the ability to identify, classify, and memorize pitches without use of an external reference pitch. In tests of AP, several species were trained to sort contiguous tones into three or eight frequency ranges, based on correlations between responding to tones in each frequency range and reinforcement. Two songbird species, zebra finches and white-throated sparrows, and a parrot species, budgerigars had highly accurate AP, they discriminated both three and eight ranges with precision. Relative to normally reared songbirds, isolate reared songbirds had impaired AP. Two mammalian species, humans and rats, had equivalent and weak AP, they discriminated three frequency ranges to a lackluster standard and they acquired only a crude discrimination of the lowest and highest of eight frequency ranges. In comparisons with mammals even isolate songbirds had more accurate AP than humans and rats.

Diffuse cerebral petechial hemorrhage in an 8-year-old girl with MRSA pneumonia and sepsis.

An 8-year-old girl in septic shock due to necrotizing methicillin-resistant Staphylococcus aureus (MRSA) pneumonia developed signs of end-organ damage, new right hemiplegia, and left gaze preference. Susceptibility-weighted MRI demonstrated extensive multifocal petechial hemorrhage preferentially at the gray-white matter interface due to septic microemboli (figure). Mechanisms of hemorrhage include small-vessel occlusion leading to mycotic aneurysm formation with rupture or pyogenic arteritis without aneurysm formation.(1) Intracranial hemorrhage associated with metastatic staphylococcal infections is rarely described(2) and is especially noteworthy with diffuse cerebral petechial hemorrhage in the setting of metastatic MRSA.

Use of the 2010 McDonald criteria can facilitate early diagnosis of pediatric multiple sclerosis in a predominantly black cohort.

BACKGROUND: Pediatric-onset multiple sclerosis represents around 3-5% of all patients with multiple sclerosis. Both the 2005 and 2010 McDonald criteria for multiple sclerosis have been suggested for the possible use in pediatric-onset multiple sclerosis. Modifications incorporated into the 2010 criteria enabled the fulfillment of dissemination in time to be met with the initial magnetic resonance imaging. The present study was designed to compare the diagnostic sensitivity of these criteria at initial presentation, the time to fulfilling them, and secondary effects of ethnicity in pediatric-onset multiple sclerosis. METHODS: Twenty-five children with clinically definite multiple sclerosis (mean age, 14.6 ± 3.1 years; 15 girls) from a single center between 2005 and 2012 were analyzed using both the 2005 and 2010 McDonald criteria based on initial clinical presentation and neuroimaging findings comparing diagnostic sensitivity, time interval to meet diagnosis, and ethnicity. RESULTS: Initial multiple sclerosis diagnosis rates applying the 2005 McDonald criteria were 32% compared with 92% for the 2010 criteria (P = 0.0003). The mean time after initial signs until the 2005 and 2010 McDonald criteria for multiple sclerosis were met was 5.0 vs 0.7 months, respectively (P = 0.001). Time to diagnosis using the 2010 criteria was shorter in black children than the European white (P = 0.005). CONCLUSIONS: The 2010 McDonald criteria are an appropriate tool for the timely diagnosis of pediatric multiple sclerosis, especially in black children, potentially allowing an earlier initiation of disease-modifying therapy.