GLUT1 deficiency with delayed myelination responding to ketogenic diet.

Monitoring effects of a ketogenic diet in GLUT1 deficiency syndrome without seizures is difficult. Neuroimaging is considered uninformative. We report the case of a boy with neurodevelopmental delay, severe ataxia, an E54X-mutation in the SLC2A1 gene (previously GLUT1), and neuroimaging abnormalities indicative of delayed myelination. Six months on a ketogenic diet resulted in an improved high subcortical white matter signal on T2-weighted images and a reduced N-acetylaspartate/creatine ratio. We conclude that delayed subcortical myelination may occur in GLUT1 deficiency syndrome as a nonspecific finding reflecting developmental delay. In patients without seizures, cranial magnetic resonance imaging and magnetic resonance spectroscopy may prove useful tools to monitor the response to a ketogenic diet.

Coverage of anterior fossa in whole-brain irradiation.

PURPOSE: Whole-brain irradiation is indispensable in the treatment of several brain tumors and requires coverage of the entire subarachnoid space. Retrospective studies have revealed frequent recurrences in the frontobasal fossa above the cribriform plate (CP). We sought to determine how accurately the latter could actually be identified on lateral radiographs such as those used for radiotherapy planning. METHODS AND MATERIALS: The CP was localized by five radiation oncologists and five radiologists on lateral radiographs of 30 human skulls from an anatomic collection. Reference radiographs were acquired under identical conditions except for lead markers pointing to the CP and the ethmoid cells. The targeting accuracy was analyzed. RESULTS: In 39% (n = 116), the location of the CP was correctly estimated within 2 mm. Mislocations of 2-5, 5-10, and >10 mm were noted in 34% (n = 102), 20% (n = 61), and 7% (n = 21), respectively. Neither specialty nor experience (years of training) exerted a significant influence on targeting accuracy. If the roofs of the ethmoid cells formed prominent bony edges, they were mistaken for the CP in 37%. CONCLUSION: Lateral radiographs provide insufficient information to locate the CP accurately in whole brain irradiation. Additionally, localization was significantly impaired by prominent ethmoid cells.

RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.

Congenital cytomegalovirus brain infection without symptoms at birth can cause a static encephalopathy with characteristic patterns of brain abnormalities. Here we show that loss-of-function mutations in the gene encoding the RNASET2 glycoprotein lead to cystic leukoencephalopathy, an autosomal recessive disorder with an indistinguishable clinical and neuroradiological phenotype. Congenital cytomegalovirus infection and RNASET2 deficiency may both interfere with brain development and myelination through angiogenesis or RNA metabolism.

Diffusion-weighted MR imaging in the brain in children: findings in the normal brain and in the brain with white matter diseases.

PURPOSE: To establish quantitative standards for age-related changes in diffusion restriction of cerebral white matter in healthy children and to compare data with results in children with white matter diseases. MATERIALS AND METHODS: Diffusion-weighted magnetic resonance (MR) imaging was performed in 44 children (age range, 7 days to 7.5 years) without brain abnormalities and in 13 children with proved leukodystrophy. Apparent diffusion coefficient (ADC) and apparent anisotropy (AA) were measured in 11 regions of interest within white matter. Age-related changes were analyzed with regression analysis. RESULTS: During normal brain myelination, ADCs in different anatomic regions were high at birth (range, 1.04 x 10(-9) m(2)/sec +/- 0.05 [SD] to 1.64 x 10(-9) m(2)/sec +/- 0.09) and low after brain maturation (range, 0.75 x 10(-9) m(2)/sec +/- 0.02 to 0.92 x 10(-9) m(2)/sec +/- 0.02). AA was low at birth (range, 0.05 +/- 0.01 to 0.52 +/- 0.04) and high after brain maturation (range, 0.25 +/- 0.02 to 0.85 +/- 0.03). Age relationship could be expressed with monoexponential functions for all anatomic regions. Anisotropy preceded the myelination-related changes at MR imaging. ADC and AA in four children with Pelizaeus-Merzbacher disease were identical with results in healthy newborn children and showed no age dependency. In peroxisomal disorders, Krabbe disease, and mitochondriopathy, demyelination on T1- and T2-weighted MR images led to expected findings at diffusion-weighted MR imaging, with high ADC and low AA, whereas in Canavan disease and metachromatic leukodystrophy, the opposite findings were revealed, with low ADC within the demyelinated white matter. CONCLUSION: During early brain myelination, diffusion restriction in normal white matter increases. Anisotropy precedes myelination changes that are visible at MR imaging. Compared with T1- and T2-weighted MR imaging, diffusion-weighted MR imaging in white matter diseases reveals additional information.

Follicular lymphoid hyperplasia simulating intussusception in a 6-year-old boy: clinical, radiological and histopathological findings.

We report the case of a 6-year-old boy who initially presented with recurrent abdominal pain. Diagnostic imaging, including ultrasound and CT, showed findings typical of an ileocecal intussusception with abdominal lymphadenopathy. Sonographically, the morphological appearance of the intussusception did not change during a 4-week follow-up period. Surgery was performed on the tentative diagnosis of a tumour versus lymphoma. Upon laparatomy, intussusception was ruled out and a large, broad-based tumour of the caecum was palpable. The histopathology after ileocecal resection revealed follicular lymphoid hyperplasia. Where there is radiological suspicion of an intussusception in children with no or insignificant symptoms, follicular lymphoid hyperplasia should be included in the differential diagnosis.