Rasmussen syndrome and CNS granulomatous disease with NOD2/CARD15 mutations.

Rasmussen syndrome (RS) is a clinical diagnosis characterized by persistent focal seizures in a previously healthy child. Occasionally, the typical features of RS may be followed by another diagnosis. We discuss the course of a 12-year-old girl who presented with RS but was later diagnosed with CNS granulomatous disease and NOD2/CARD15 mutations. Her response to infliximab suggests that it should be included in immune-modulatory therapies used to treat these refractory disorders.

Autosomal dominant acute necrotizing encephalopathy.

OBJECTIVE: To define the clinical and biochemical abnormalities of an autosomal dominant form of acute encephalopathy. METHODS: The clinical details of 11 affected family members in comparison with 63 unaffected relatives were analyzed. RESULTS: Affected children become comatose after onset of a febrile illness. Outcomes include full recovery, permanent neurologic impairment, and death. Recurrences produce more severe impairments. Lesions of necrotizing encephalopathy of the thalamus and brainstem are present on autopsy and MRI. Oxidative phosphorylation of intact mitochondria from a muscle biopsy shows loose coupling. Unaffected family members, including obligate carriers, share no clinical characteristics, demonstrating incomplete penetrance. CONCLUSIONS: Characteristic pathology and MRI findings define this disorder of autosomal dominant acute encephalopathy. Leigh syndrome and sporadic acute necrotizing encephalopathy share similarities but are distinct.

Magnetic resonance techniques in the evaluation of the fetal and neonatal brain.

Magnetic resonance imaging (MRI) has contributed dramatically to our understanding of the newborn with neurologic problems. Recently developed magnetic resonance techniques, such as fetal MRI and MR spectroscopy, offer additional insight into normal and pathologic processes affecting the fetal and neonatal CNS. This article examines developmental abnormalities as reflected in neuroimaging studies and discusses some of the newer MR modalities and their capabilities.

Imaging of paranasal sinus disease.

Imaging plays an important role in the management of paranasal sinus disease in the pediatric population. An understanding of the advantages and disadvantages of available modalities enables the clinician to best utilize imaging resources.

Syntelencephaly in an infant of a diabetic mother.

Here we report on an infant of a diabetic mother (IDM) with midline interhemispheric "fusion" (MIF), or syntelencephaly. This is a rare anomaly characterized by segmental failure of cleavage of the cerebral hemispheres and other brain structures in the posterior frontal and parietal regions, with a normal interhemispheric fissure anterior and posterior to the "fused" region. While there is obvious overlap with holoprosencephaly (HPE), this condition differs from HPE in that the midline "fusion" in MIF is complete but segmental, while the structural brain anomalies seen in the HPE spectrum progress smoothly in severity in a posterior to anterior "fusion." However, while it is apparent that there are key distinctions between MIF and HPE, in all likelihood they arise from a similar pathogenetic mechanisms. We therefore suggest that MIF is a distinct variant of the HPE spectrum of midline brain anomalies. Given the known increased incidence of HPE in IDMs, MIF is likely a maternal diabetes-associated malformation.

Hyperintense disks on T1-weighted MR images: correlation with calcification.

PURPOSE: To determine if calcification in the intervertebral disk is associated with hyperintensity on T1-weighted spin-echo magnetic resonance (MR) images. MATERIALS AND METHODS: Sagittal T1-weighted MR images that showed one or more hyperintense intervertebral disks and correlative computed tomographic (CT) scans, plain radiographs, or both, were obtained in 11 patients retrospectively and in 43 patients prospectively. Six patients underwent MR imaging with a fat-suppression technique. Histologic analysis of two disks was performed. RESULTS: Absence of calcification was associated with disks that were isointense relative to normal disks (P < .001), mild to moderate calcification was associated with hyperintense disks (P < .001 and P = .004 [two readers]), and both mild to moderate and marked calcifications were associated with hypointense disks (P < .001). Fat suppression resulted in a decrease in hyperintense signal in two patients. CONCLUSION: The results indicate that hyperintensity is associated with calcification. In the absence of clinical findings that suggest other causes, hyperintense disks are suggestive of degenerative disk disease.