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Several case reports describe children with global developmental delay who have brain creatine deficiency, where the deficiency was due to a lack of creatine transport into the brain or altered creatine synthesis. The purpose of this study was to determine what percentage of males with developmental delay referred for brain magnetic resonance imaging (MRI) at the authors' institution in a 12-month period was found to have brain creatine deficiency due to a defect in the creatine transporter gene. In the authors' facility, single voxel proton magnetic resonance spectroscopy (MRS) is routinely performed on any male child age 2 to 18 years with a history of language and/or developmental delay referred for a brain MRI. Charts for the 12-month time period were retrospectively reviewed. Fourteen subjects met inclusion criteria for global developmental delay. Two of the 14 patients had brain creatine deficiency on MRS. In the remaining 12, other structural and white matter abnormalities were identified. This study suggests that brain creatine deficiency is an important consideration in the differential diagnosis of males with global developmental delay referred for brain MRI; brain MRS should be considered in such cases. [ABSTRACT FROM AUTHOR]

Hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome is an uncommon outcome of prolonged focal status epilepticus in childhood. The prolonged focal motor seizure usually occurs during the course of a febrile illness and is followed by hemiplegia ipsilateral to the side of convulsions. This is accompanied by radiologic evidence of acute cytotoxic edema in the affected hemisphere followed by chronic atrophy. Intractable epilepsy may develop at a time remote from the initial presentation. The clinical features of HHE syndrome were first described more than 5 decades ago but its pathophysiology remains poorly understood and the long-term cognitive outcomes are unclear. Early recognition of the syndrome may help provide patients and families with an accurate prognosis regarding the subsequent development of epilepsy.

To determine whether the BOLD signal used in fMRI is age dependent in childhood, 332 healthy children (age 4.9-18.9 years) performed tasks in a periodic block design during 3 T fMRI: (1) a verb generation task interleaved with a finger tapping task; (2) a word-picture matching task interleaved with an image discrimination task. Significant correlations between percent signal change in BOLD effect and age occurred in left Broca's, middle frontal, Wernicke's, and inferior parietal regions, and anterior cingulate during the verb generation task; in precentral, postcentral, middle frontal, supplementary motor, and precuneus regions during the finger tapping task; and in bilateral lingula gyri during the word-picture matching task. Thus, BOLD effect increases with age in children during sensorimotor and language tasks.

We present a report of MRI and proton MR spectroscopy (MRS) findings in an adolescent patient with Down syndrome and Crohn disease treated with metronidazole. MRI revealed signal abnormalities within the corpus callosum, basal ganglia, and brainstem. Proton MRS examination demonstrated a persistent lactate elevation during metronidazole treatment. Clinical, spectroscopic, and imaging abnormalities resolved with discontinuation of metronidazole.