Bilateral complete labyrinthine aplasia with bilateral internal carotid artery aplasia, developmental delay, and gaze abnormalities: a presumptive case of a rare HOXA1 mutation syndrome.

The human HOXA1 mutation syndromes commonly present with abnormalities of the inner ear and ICAs. Previous cases describe varying degrees of hypoplasia or aplasia of the affected structures, often with asymmetric involvement. We present imaging findings documenting complete absence of the ICAs bilaterally with bilateral CLA, which, to our knowledge, has not been previously reported.

Improved delineation of ventricular shunt catheters using fast steady-state gradient recalled-echo sequences in a rapid brain MR imaging protocol in nonsedated pediatric patients.

BACKGROUND AND PURPOSE: Rapid brain MR imaging is often substituted for head CT in multiply imaged patients with shunted hydrocephalus. Fast TSE-T2 sequences are commonly used in these protocols. One limitation of TSE-T2 sequences is the decreased catheter delineation compared with CT. The aim of this study was to compare fast TSE-T2 with rapid SS-GRE sequences in the evaluation of intracranial shunt catheter delineation as part of a rapid nonsedated pediatric brain MR imaging protocol. MATERIALS AND METHODS: We evaluated the findings from 179 consecutive patients who underwent routine clinical imaging according to the rapid nonsedated pediatric brain MR imaging protocol. Comparison of the quality of intracranial shunt catheter localization on SS-GRE versus TSE-T2 was performed. RESULTS: Of the total of 179 rapid nonsedated pediatric brain MR images that were reviewed, 62 (35%) had an intracranial shunt catheter. The shunt catheter tip was better localized on the SS-GRE than on the TSE-T2 images in 49/62 (79%) of these patients. Of the remaining 13/62 (21%), the TSE-T2 was either better or equivalent in localizing the shunt catheter tip. CONCLUSIONS: Our study shows that rapid SS-GRE sequences can provide better delineation of standard intracranial shunt catheters than standard rapid MR imaging protocols containing only fast TSE-T2 sequences.

Menstrual cycle-related brain metabolite changes using 1H magnetic resonance spectroscopy in premenopausal women: a pilot study.

Proton magnetic resonance spectroscopy (1H-MRS) was used to assess neurochemical brain changes across the menstrual cycle in five women with premenstrual dysphoric disorder (PMDD) and six control subjects. Women with PMDD and control subjects were scanned on days 8 and 26 within one menstrual cycle (i.e. at times of complete absence and height of PMDD symptoms, respectively). The point resolved spectroscopic sequence (PRESS) was used to localize a voxel of 8 ml in the medial frontal gray matter and in the occipito-parietal white matter. The ratio of N-acetyl-aspartate to creatine in the region of the medial prefrontal cortex and the cingulate gyrus declined significantly from the follicular to the luteal phase in both groups of subjects. The menstrual phase-dependent significant increase in the ratio of choline to creatine was observed in the parietal white matter. The myo-inositol/creatine ratio exhibited a trend toward higher levels in the PMDD patients in the luteal phase of the menstrual cycle. Differences between PMDD and control subjects were not statistically significant. Menstrual cycle phase-dependent changes in ovarian hormonal concentrations may influence the neurochemistry of brain activity in premenopausal women.

Trans-sphenoidal and sphenoethmoidal encephalocele: report of two cases and review of the literature.

Basal encephaloceles are the least common form of encephalocele. Due to the critical position of the bony defect, visual and endocrinological abnormalities are frequently associated with basal encephaloceles. There is significant confusion in the classification of basal encephaloceles, particularly among trans-sphenoidal, sphenoethmoidal and intrasphenoidal subtypes. Two cases of basal encephaloceles are presented (one trans-sphenoidal and one sphenoethmoidal), along with a review of the literature. The relationship between the basal encephaloceles and endocrinological abnormalities is also emphasized.

Aplasia of right internal carotid artery and hypopituitarism.

BACKGROUND: The pathogenesis of congenital hypopituitarism is unknown in many cases. OBJECTIVE: We report a case of congenital pan-anterior hypopituitarism in association with a complex vascular abnormality involving the central nervous system, nasal pyriform aperture stenosis, and a single central maxillary incisor. MATERIALS AND METHODS: MRI and MRA were used to define this patient's complex vascular anomaly. RESULTS: The vascular abnormality consists of absence of the right common carotid artery, the right internal carotid artery, the A1 segment of the right anterior cerebral artery, the anterior communicating artery, and partial absence of the M1 segment of the right middle cerebral artery. CONCLUSION: This unusual vascular anomaly may contribute to the pathogenesis of some cases of congenital hypopituitarism and related midline abnormalities, or may result from a common defect that causes pituitary insufficiency.

Transcranial Doppler ultrasonography to evaluate need for cerebrospinal fluid drainage in hydrocephalic children.

The aim of this study was to determine whether the resistive index in the anterior cerebral artery, as measured by transcranial Doppler ultrasonography without and with pressure provocation, predicts the need for cerebrospinal fluid drainage in hydrocephalic children. Both without and with pressure provocation, the resistive index was significantly higher (P > 0.05) in patients with raised intracranial pressure compared with control group patients and dropped significantly after drainage. With receiver operating characteristic analysis, the optimal cutoff point between normal and abnormal resistive index values was determined at 0.71 without pressure provocation and at 0.90 with pressure provocation. The addition of the pressure provocation test improved accuracy from 81 to 91%, mainly by improving specificity. In conclusion, transcranial Doppler ultrasonography with pressure provocation accurately identifies hydrocephalic children who require cerebrospinal fluid drainage procedures.

Bilateral neuropathologic changes in a child with hemimegalencephaly.

Evaluation of a 7-month-old girl with developmental delay and intractable seizures revealed hemispheric asymmetry and an enlarged right cerebral hemisphere. Because of a history of seizures refractory to medical therapy, she was admitted for right hemispherectomy, but died of complications of surgery. Postmortem brain examination revealed asymmetric enlargement of the right cerebral hemisphere but no gross abnormalities in the left hemisphere. Microscopic examination demonstrated bilateral neuropathologic changes consistent with severe cortical dysplasia in the right cerebral hemisphere and mild cortical dysplasia in the left. Although white matter abnormalities in the unaffected hemisphere have been reported in hemimegalencephaly, bilateral cortical abnormalities, not reported previously in patients with hemimegalencephaly, may account for the varied clinical outcome with medical therapy or after hemispherectomy.

Asymmetric and asynchronous infantile spasms.

Infantile spasms most commonly show symmetric behavioral and electroencephalogram (EEG) manifestations. Asymmetric and asynchronous behavioral spasms occur occasionally, but their relationship to ictal EEG and to other localizing studies has not received much attention. We reviewed 75 consecutive video-EEG recordings, done at UCLA from 1982 to 1992, that contained infantile spasms; 8,680 spasms were scored for behavioral and EEG asymmetry and asynchrony. Of the recorded spasms, 25% were asymmetric and 7% were asynchronous. Most asymmetric of asynchronous spasms were associated with an ictal EEG discharge that was contralateral to the behaviorally more involved side. In 12 of the 60 patients (20%), more than half of the recorded spasms were asymmetric of asynchronous. Baseline EEG, magnetic resonance imaging, positron emission tomography, and neurological examination revealed structural and functional brain abnormalities that involved the contralateral central region significantly more often in the children with > 50% spasm asymmetry or asynchrony than in the other children. Partial seizures with lateralized motor behavior also occurred frequently in these children. The findings suggest that asymmetric and asynchronous spasms are generated by a cortical epileptogenic region that involves the primary sensorimotor area. The combination of asymmetric and asynchronous infantile spasms, partial motor seizures involving the same side of the body, and pathology in the contralateral central region may represent a unique subset of symptomatic localization-related infantile epilepsy.

T2 hyperintensities in bipolar disorder: magnetic resonance imaging comparison and literature meta-analysis.

OBJECTIVE: Accumulating evidence suggests a greater number of T2 abnormalities in the brains of patients with bipolar I disorder. The authors sought to evaluate the presence of signal "hyperintensities" in both bipolar I and II subjects and systematically review the existing literature. METHOD: Magnetic resonance images of the brain were obtained prospectively for 29 patients with bipolar I disorder, 26 patients with bipolar II disorder, and 20 normal comparison subjects. The presence and location of signal hyperintensities in three brain regions (periventricular white matter, subcortical gray matter, and deep white matter) were evaluated. RESULTS: No significant differences were found between groups for the presence of subcortical gray or deep white matter hyperintensities. Periventricular hyperintensities were more common in bipolar I patients (62%) than in bipolar II patients (38%) and normal comparison subjects (30%). Within patient groups, medication use was not significantly different for those with or without the presence of white matter hyperintensities. The literature on bipolar disorder and signal hyperintensities is reviewed. A meta-analysis of the pooled data in the literature on bipolar illness and signal hyperintensities revealed that the odds of having a T2 hyperintensity are significantly greater for bipolar I than for normal comparison subjects. CONCLUSIONS: Having bipolar I disorder significantly increases the chance of having white matter changes in the brain. This study suggests that bipolar II patients may be more similar than bipolar I patients to comparison subjects on T2 measures. The possible pathophysiological significance of hyperintensities is discussed.

Microscopic cortical dysplasia in infantile spasms: evolution of white matter abnormalities.

PURPOSE: To determine whether microscopic cortical lamination defects in patients with infantile spasms, not initially identifiable on MR, may be inferred from evolving changes in the adjacent white matter. METHODS: Three infants between 3 and 6 months of age presented with infantile spasms. Based on negative metabolic assessment and normal MR findings, they were classified as cryptogenic. Despite therapy the children deteriorated with seizure recurrence and the advent of lateralizing clinical and neurophysiologic findings. MR studies were repeated and positron emission tomography was done. RESULTS: The second MR studies demonstrated abnormalities of myelination, corresponding to localized clinical and neurophysiologic findings. Positron emission tomography findings did not show a strong correlation; one was normal, one showed no abnormality in the major area of MR abnormality, and one showed significantly less abnormality than on MR. Two patients have undergone surgery, both with good response. DISCUSSION: Subtle lamination defects may be identifiable on positron emission tomography but are usually not detectable on MR. White matter abnormality on MR images is usually attributable to primary disease. We suggest that in certain cases progressive white matter changes may be induced as a secondary phenomenon by overlying microscopic cortical lamination defects. Serial MR imaging may be beneficial in children with infantile spasms in whom signs of laterality evolve.

Corpus callosum agenesis and epilepsy: PET findings.

Positron emission tomography (PET) with 2-deoxy-2[18F]fluoro-D-glucose (FDG) was used to study 9 children who demonstrated complete or partial agenesis of the corpus callosum (ACC) on magnetic resonance imaging (MRI). Of the 7 patients with epilepsy, FDG-PET clearly localized areas of cortical metabolic abnormality in 6 patients; in 5 of these, localization of the metabolic abnormalities on PET corresponded to electroencephalographic localization of epileptogenicity. MRI documented focal cortical abnormalities in only 2 of the 7 children with epilepsy. In 1 patient, the abnormality observed on MRI was confined to a frontal lobe, whereas the FDG-PET study revealed hypometabolism of the entire hemisphere. One patient with infantile spasms exhibited bilateral multifocal epileptiform discharges on electroencephalography, whereas both the PET and MRI revealed only left hemispheral cortical abnormalities. Another patient with infantile spasms had prominent brainstem glucose metabolic activity on FDG-PET in the absence of any MRI or PET cortical abnormality. Two children underwent surgery because of refractory seizures; the resected cortical tissue in both patients consisted of cortical microdysgenesis. Seizure control improved significantly in both patients. FDG-PET studies in the 2 highest functioning patients (i.e., only minor learning disabilities and no epilepsy) did not reveal any focal cortical hypometabolism; therefore, there appears to be an association between the presence of focal metabolic abnormalities on PET and the presence of seizures in ACC patients.(ABSTRACT TRUNCATED AT 250 WORDS)

Pediatric intracranial vascular malformations: evaluation of treatment results with color Doppler US. Work in progress.

To determine the value of color Doppler ultrasound (US) in the preoperative assessment and evaluation of treatment results in children with intracranial vascular malformations (VMs), the authors performed 36 color Doppler US studies in nine children who underwent endovascular embolization. Color flow imaging with spectral waveform analysis of feeding arteries, nidus, draining veins, and uninvolved cranial vasculature was performed, and correlation was made with other imaging findings. In most VMs, color Doppler US enabled the authors to map the lesion completely. Hemodynamic changes after embolization included improvement in blood supply to uninvolved portions of the brain and increase in caliber and flow of feeding vessels that were not occluded during embolization. Serial volume flow measurements were performed with Doppler US in major extracranial arteries. Success of embolization was indicated by substantial decrease of total carotid artery flow. Color Doppler US is a noninvasive modality that adds important imaging and hemodynamic data to those provided by angiography.

The pediatric patient with suspected adrenal neoplasm: which radiological test to use?

To establish which radiological test to use in a pediatric patient with suspected neoplasm, we retrospectively studied 19 children with proven adrenal neoplasm who had a combination of ultrasound (US), computed tomography (CT), and magnetic resonance imaging (MRI). The results show that US should remain the initial imaging modality for evaluating abdominal masses in children but that MRI is more accurate than CT and US in detecting the organ of origin and the extent of an adrenal lesion and should, therefore, be the modality of choice for the definitive evaluation of adrenal neoplasm in children.

Neuropathologic findings in cortical resections (including hemispherectomies) performed for the treatment of intractable childhood epilepsy.

Despite the use of hemispherectomy in the treatment of medically refractory seizures since the early 1950's, few studies published have documented neuropathologic findings in the resected specimens. This report describes the neuropathologic findings in 38 children who underwent either hemispherectomy or multilobar cortical resection as treatment for medically intractable epilepsy between 1986 and 1990. Examination of the resected specimens revealed a variety of abnormalities which fell into four broad categories. Malformations or hamartomatous lesions were the dominant finding in 15 patients, whereas encephalomalacic lesions were the most prominent abnormality in 16; chronic pathogen-free encephalitits (Rasmussen's encephalitis) was present in 3 and an additional 3 children had Sturge-Weber-Dimitri syndrome. There were no gross or microscopic abnormalities in 1 patient. This report provides the first comprehensive description of the pathologic findings in a series of children with refractory epilepsy of varying types treated by hemispherectomy-multilobar resection.

A patient with bulimia nervosa and profound folate deficiency.

A case is reported of a young woman with bulimia nervosa who presented with profound folate deficiency. This association has not been reported before despite the increased theoretical possibility. Initially she has responded well to folic acid therapy and social support.