Proton MR spectroscopy in patients with neurofibromatosis type 1: evaluation of hamartomas and clinical correlation.

PURPOSETo use proton MR spectroscopy in patients with neurofibromatosis type 1 to determine: (a) the spectroscopic characteristics of hamartomas and compare them with that of gliomas; (b) whether differences exist between patients with and without learning disabilities; and (c) spectroscopic patterns in normal-appearing brain (by MR imaging) in patients with and without focal lesions.METHODSSeventeen proton MR spectroscopy volumes were obtained in 10 patients with neurofibromatosis type 1 (including hamartomas, N = 7; normal-appearing brain, N = 10). Seven patients had learning disorders, and 3 were mentally normal. Ten healthy volunteers and 10 patients with pathologically proved gliomas (all grades) were also examined. N-Acetyl aspartate/creatine, creatine/choline, and N-acetyl aspartate/choline ratios were calculated for all samples.RESULTS(a) Hamartomas showed higher N-acetyl aspartate/creatine, creatine/choline, and N-acetyl aspartate/choline ratios than gliomas. Hamartomas showed N-acetyl aspartate/creatine, creatine/choline, and N-acetyl aspartate/choline ratios similar to those of healthy volunteers. (b) No significant differences in N-acetyl aspartate/creatine, creatine/choline, and N-acetyl aspartate/choline ratios were found in patients who had neurofibromatosis type 1 with and without learning disabilities. (c) N-acetyl aspartate/creatine, creatine/choline, and N-acetyl aspartate/choline ratios were similar for patients who had neurofibromatosis type 1 with and without focal hamartomas and in healthy volunteers.CONCLUSIONS(a) Hamartomas have a proton MR spectroscopy pattern different from that of glioma and similar to that of normal brain. (b) As performed in this study, proton MR spectroscopy did not show significant differences in patients who had neurofibromatosis type 1 with and without learning disabilities. (c) Patients who have neurofibromatosis type 1 with and without hamartomas seem to have normal intervening brain by proton MR spectroscopy when compared with healthy volunteers.     

Proton magnetic resonance spectroscopy of the hippocampus in patients with mild cognitive impairment: a pilot study

OBJECTIVE: To assess the brain metabolites in the hippocampus of patients with mild cognitive impairment (MCI) using proton magnetic resonance spectroscopy at 0.5 T. METHODS: Absolute concentrations and ratios to creatine of N-acetyl aspartate, myoinositol, glutamate + glutamine, and choline were measured in the right and left hippocampus of 5 MCI patients and 5 control subjects. RESULTS: In MCI subjects, reduced N-acetyl aspartate was found in the right hippocampus (P = 0.01), and increased myoinositol was found in the left hippocampus (P = 0.02). Myoinositol/N-acetyl aspartate ratios were higher in the right (P = 0.03) and left (P = 0.01) hippocampus of MCI subjects. No significant difference in the concentration of glutamate + glutamine was observed between the control and MCI groups. CONCLUSIONS: An increase in myoinositol and a decrease in N-acetyl aspartate may be observed in the preclinical stages of dementia. Ratio measurements of these metabolites may serve as a biomarker for MCI.     

Characterization of intracranial mass lesions with in vivo proton MR spectroscopy.

PURPOSETo assess the use of in vivo proton MR spectroscopy for characterization of intracranial mass lesions and to ascertain its reliability in grading of gliomas.METHODSOne hundred twenty patients with intracranial masses were subjected to volume selective spectroscopy using stimulated echo acquisition mode (echo time, 20 and 270 milliseconds) and spin echo (echo time, 135 milliseconds) sequences. The intracranial lesions were grouped into intraaxial and extraaxial, as judged with MR imaging. Assignment of resonances was confirmed in two samples each of brain abscess, epidermoid cyst, and tuberculoma using ex vivo high-resolution MR spectroscopy.RESULTSThe in vivo spectra appeared distinct compared with normal brain in all the cases. All high-grade gliomas (n = 37) showed high choline and low or absent N-acetyl-L-aspartate and creatine along with lipid and/or lactate, whereas low-grade gliomas (n = 23) were characterized by low N-acetyl-aspartate and creatine and high choline and presence of only lactate. N-acetyl-aspartate/choline ratio was significantly lower and choline/creatine ratio was significantly higher in high-grade gliomas than in low-grade gliomas. Presence of lipids suggested a higher grade of malignancy. All metastases (n = 7) showed lipid and lactate, whereas choline was visible in only four cases. Epidermoids showed resonances from lactate and an unassigned resonance at 1.8 ppm. Meningiomas could be differentiated from schwannomas by the presence of alanine in the former. Among the infective masses, pyogenic abscesses (n = 6) showed resonances only from cytosolic amino acids, lactate, alanine, and acetate; and tuberculomas (n = 11) showed only lipid resonances.CONCLUSIONSIn vivo proton MR spectroscopy, helps in tissue characterization of intracranial mass lesions. Spectroscopy is a reliable technique for grading of gliomas when N-acetyl-aspartate/choline and choline/creatine ratios and presence of lipids are used in combination.     

Proton magnetic resonance spectroscopy of human brain: applications to normal white matter, chronic infarction, and MRI white matter signal hyperintensities.

A modified ISIS method, for image-selected localized proton magnetic resonance spectroscopy (1H MRS), was used to determine the ratios and T2 relaxation times of proton metabolites in normal subjects and in patients with chronic infarction and MRI white matter signal hyperintensities (WMSH). First, in patients with cerebral infarctions, increased concentrations of lactate were found in the majority of patients, and N-acetyl aspartate (NAA) was reduced to a significantly greater extent than choline (Cho) or creatine (Cre). For TE = 270 ms, the raw ratios of Cho/NAA, Cre/NAA, and Lac/NAA were significantly (P less than 0.05) increased from 0.23 +/- 0.02 (mean +/- SE), 0.20 +/- 0.01, and 0.05 +/- 0.01, respectively in the normal group to 0.39 +/- 0.08, 0.37 +/- 0.05, and 0.48 +/- 0.15 in the stroke group. Also, the T2 relaxation time of creatine was significantly (P = 0.007) increased from 136 ms in normal white matter to 171 ms in cerebral infarcts. Second, in patients with WMSH, no significant change of the proton metabolite concentrations could be detected with the exception of the choline which was significantly (P = 0.003) altered. The Cho/NAA ratio, after T2 and excitation profile correction, increased from 0.47 +/- 0.02 in the normal group to 0.64 +/- 0.05 in the WMSH group. Third, in normal white matter, the concentration of N-acetyl aspartate, choline, and lactate was estimated to 11.5, 2.0, and 0.6 mM, respectively, by assuming a total creatine concentration of 10 mM.     

Integrated MR imaging and proton nuclear magnetic resonance spectroscopy in a family with an X-linked spastic paraparesis

Seven members of a family with an X-linked spastic paraparesis syndrome were analyzed by MR imaging and stimulated echo, solvent-suppressed proton nuclear magnetic resonance spectroscopy. The MR scans of three symptomatic males and two asymptomatic females demonstrated abnormal signal in the supratentorial white matter. Each of these patients had a proton spectroscopic examination of a 2 X 2 X 2 cm voxel localized to the abnormal white matter of the centrum semiovale. The spectra demonstrated depression of N-acetyl aspartate/creatine, N-acetyl aspartate/choline, and creatine/choline ratios compared with normal control subjects. Additionally, these patients had abnormal elevations of amino acid resonances in the 2.1-3.0 ppm range. In a patient with symmetric white matter signal intensity abnormalities, an asymmetric spectroscopic study correlated with asymmetric symptoms. One asymptomatic family member with a normal MR study had abnormal metabolite ratio measurements. She was referred for further evaluation, since the proton spectrum suggested she may possess the affected gene. If the findings in this study are duplicated in other cases of hereditary dysmyelinating syndromes, we believe the integrated MR/proton nuclear magnetic resonance spectroscopy examination will be of benefit in evaluating and counseling families with familial dysmyelinating disorders.     

Proton MR spectroscopy in multiple sclerosis: value in establishing diagnosis, monitoring progression, and evaluating therapy

MR imaging is currently the technique of choice for evaluating brain lesions in patients with multiple sclerosis (MS). In addition to MR imaging, proton MR spectroscopy has shown potential in diagnosing MS and monitoring the progression of treatment. Spatially localized proton spectroscopy has been used to evaluate changes in choline, creatine, N-acetyl aspartate (NAA), lipids, and lactate in MS patients and in animal models of MS. The main spectroscopic findings are a decrease in the NAA:creatine ratio and an increase in the choline:creatine ratio in brain regions that include plaques defined by MR imaging. Proton MR spectroscopy along with MR imaging may be helpful in distinguishing those early lesions that might respond to therapy from late irreversible lesions. Preliminary evidence suggests that although the proton spectra acquired from patients with various brain diseases are similar (high choline, low NAA), there are differences in other resonances (lipids, lactate, glutamate, inositol) that could potentially help in diagnosing MS. Changes in proton metabolites potentially can be used to differentiate between the different stages of the MS lesion (hyperacute and edematous lesions, demyelinated lesions, and subacute to chronic plaques). It is hypothesized that successful treatment of demyelination and neuronal damage will be accompanied by changes in the proton spectrum (high choline:creatine ratio will lower to normal values and low NAA:creatine values will rise to normal values).     

MR imaging and proton spectroscopy of the brain in posttraumatic cortical blindness

Magnetic resonance (MR) imaging and localized proton MR spectroscopy of the occipital lobes were performed in a patient with cortical blindness following brain trauma. Computed tomography (CT) scans and MR images of the visual cortex were normal in the acute stage. Six weeks after the trauma, MR images showed cortical lesions in both occipital lobes, while the spectra showed elevated lactate and decreased N-acetyl aspartate levels relative to those of healthy volunteers. One year later, visual acuity had improved and follow-up studies revealed an increase in the ratios of N-acetyl aspartate to choline and creatine. These results demonstrate that parenchymal lesions may develop in brain regions that appear normal at CT and MR imaging during the acute stage after trauma. Metabolic changes can be observed in these areas by means of localized proton MR spectroscopy.     

Long and short echo time proton magnetic resonance spectroscopic imaging of the healthy aging brain

PURPOSE: To investigate the relationship between subject age and white matter brain metabolite concentrations and R(2) relaxation rates in a cross-sectional study of human brain. MATERIALS AND METHODS: Long- and short-echo proton spectroscopic imaging were used to investigate concentrations and R2 relaxation rates of N-acetyl aspartate (NAA) + N-acetyl aspartyl glutamate (NAAG), choline (Cho), creatine (Cr), and myoinositol (mI) in the white matter of the centrum semiovale of 106 healthy volunteers aged 50-90 years; usable data were obtained from 79 subjects. A major aim was to identify which parameters were most sensitive to changes with age. Spectra were analyzed using the LCModel method. RESULTS: The apparent R2 of NAA and the LCModel concentration of Cr at short echo time were significantly correlated with age after multiplicity correction. Large lipid resonances were observed in the brain midline of some subjects, the incidence increasing significantly with age. We believe this to result from lipid deposits in the falx cerebri. CONCLUSION: Since only short-echo spectroscopy showed a robust relationship between Cr and subject age, and detects more metabolites than long echo time, we conclude that short-echo is superior to long-echo for future aging studies. Future studies could usefully determine whether the Cr-age relationship is due to changes in concentration, T1, or both.     

Reproducibility of localized 2D correlated MR spectroscopy.

The test-retest reliability of two-dimensional (2D) correlated spectroscopy (COSY) was studied on a whole-body 1.5T MRI scanner. Single-voxel localized 2D proton spectra were recorded in vitro as well as in vivo using a recently implemented localized chemical shift correlated spectroscopic (L-COSY) sequence. A total of 40 in vitro and 40 human brain (10 volunteers, four times each) 2D L-COSY spectra were recorded. The coefficients of variation (CVs) of selected brain metabolites (raw volume integrals) recorded in 10 healthy volunteers were less than 9% for creatine, choline, and N-acetyl aspartate, and less than 17% for myo-inositol, glutamine/glutamate, aspartate, and threonine/lactate. The 2D metabolite ratios and the raw volume integrals of 2D diagonal and cross peaks in healthy human brain were very well reproduced. The intraclass correlation coefficients were greater than 0.4 (P < 0.05) for the major metabolites, indicating that the 2D peak volumes were stable enough within individuals to detect reliable differences between normal subjects.     

Proton MR spectroscopy of gadolinium-enhanced multiple sclerosis plaques.

Magnetic resonance (MR) imaging and proton MR spectroscopy were performed in 14 patients with clinically definite multiple sclerosis (MS). Prominent resonances in the 0.5-2.0-ppm region were seen in the spectra of six of nine gadopentetate dimeglumine-enhanced plaques in seven patients. These resonances were presumed to originate in lipids and other myelin breakdown products. Similar resonances were detected in only seven of 21 unenhancing plaques. The more frequent presence of such signals in the gadolinium-enhanced regions indicates that myelin breakdown is often associated with the inflammation that occurs in early stages of MS plaque evolution. It remains uncertain, however, whether active inflammation as indicated by gadolinium enhancement is a necessary precursor of myelin breakdown as detected at MR spectroscopy. Quantitative spectral analysis did not indicate statistically significant differences in N-acetyl aspartate and choline levels relative to creatine plus phosphocreatine between healthy volunteers and MS patients.     

Proton MR spectroscopic characteristics of pediatric pilocytic astrocytomas.

PURPOSEWe report the common characteristics of juvenile pilocytic astrocytomas revealed by proton MR spectroscopy.METHODSEight children with pilocytic astrocytomas were studied with proton MR spectroscopy. The selected sampling volume was approximately 4 cm3, obtained from solid tumor. To localize the sampling volume, we used point-resolved spectroscopy (PRESS) and stimulated-echo acquisition mode (STEAM) techniques to acquire long- and short-TE spectra, respectively. Spectra from PRESS and STEAM sequences were processed using Lorentzian-to-Gaussian transformation and exponential apodization, respectively. For PRESS (2000/270) spectra, peaks of creatine, choline, N-acetylaspartate (NAA), and lactate resonances were integrated; for STEAM (2000/20) spectra, we measured the amplitude of the peaks at 3.2, 2.0, 1.3 and 0.9 ppm.RESULTSAn elevated lactate doublet was observed in the PRESS spectra. The choline/NAA ratio was 3.40. The amplitude ratios of the lipid pattern (0.9, 1.3 and 2.0 ppm) to choline were all below one.CONCLUSIONDespite the benign histology of the tumor, which generally lacks necrosis, a lactate signal was detected in all eight patients studied. A dominant lipid pattern was not observed.     

Proton chemical shift imaging in normal pressure hydrocephalus.

BACKGROUND AND PURPOSE: Differentiation of normal pressure hydrocephalus (NPH) from other types of dementia and the selection of appropriate candidates for shunt surgery remain a clinical challenge. The aims of this study were to assess the efficacy of cerebral metabolites depicted by proton chemical shift imaging (1H-CSI) in distinguishing NPH from other dementias and to examine the relationship between metabolite changes and the outcome of shunt surgery. METHODS: 1H-CSI measurements were obtained in nine patients with clinical diagnosis of NPH; six patients with other types of dementia, including Alzheimer and Pick disease; and five control subjects. The 1H-CSI sequence consisted of a double spin-echo sequence with imaging parameters of 2000/135/4-2 (TR/TE/acquisitions). Volumes of interest were selected from a section through the lateral ventricles. The peak areas and ratios of N-acetylaspartate, creatine, choline, and lactate were calculated. In two patients, follow-up 1H-CSI and N-isopropyl (123I)-p-iodoamphetamine brain perfusion imaging were available after treatment with continuous spinal drainage. RESULTS: Lactate peaks were observed in the lateral ventricles for all patients with NPH (lactate/creatine, 0.23 +/- 0.14) but not for patients with other types of dementia or control subjects. In all cases, we noted no significant differences in the peak ratios in the voxels located at the white matter near the lateral ventricles. In one patient with NPH, intraventricular lactate disappeared and regional CBF recovered after drainage. CONCLUSION: The intraventricular lactate level may be useful in differentiating NPH from other types of dementia.     

Proton MR spectroscopy in patients with acute temporal lobe seizures

BACKGROUND AND PURPOSE: Decreases in N-acetyl aspartate (NAA) as seen by proton MR spectroscopy are found in hippocampal sclerosis, and elevated levels of lipids/lactate have been observed after electroconvulsive therapy. Our purpose was to determine whether increased levels of lipids/lactate are found in patients with acute seizures of hippocampal origin. METHODS: Seventeen patients with known temporal lobe epilepsy underwent proton MR spectroscopy of the mesial temporal lobes within 24 hours of their last seizure. Four of them were restudied when they were seizure-free. Five healthy individuals were used as control subjects. All MR spectroscopy studies were obtained using a single-voxel technique with TEs of 135 and 270. The relationship between the presence of lipids/lactate and seizures was tested using Fisher's exact test. Mean and standard deviations for NAA/creatine (Cr) were obtained in the hippocampi in patients with seizures on initial and follow-up studies and these values were compared with those in the control subjects. RESULTS: Seizure lateralization was obtained in 15 patients. Of the 17 seizure locations that involved hippocampi, 16 showed lipids/lactate by proton MR spectroscopy. Of the 13 hippocampi not directly affected by seizures, 10 showed no lipids/lactate and three showed lipids/lactate. The relationship between lipids/lactate and seizure location was confirmed. A comparison of NAA/Cr ratios for the involved hippocampi with those in control subjects showed significant differences on initial MR spectroscopy; however, no significant difference was found between acute and follow-up NAA/Cr ratios in hippocampi affected by seizures. CONCLUSION: Lipids/lactate were present in the hippocampi of patients with acute seizures and decreased when the patients were seizure-free. Thus, lipids/lactate may be a sensitive marker for acute temporal lobe seizures.     

In vivo H-1 spectroscopy in humans at 1.5 T

Water-suppressed and section-selective proton (hydrogen-1) magnetic resonance (MR) spectra were recorded from human brain, leg muscle, liver, and heart with a 1.5-T imager. Signal from water was well suppressed, and resonances from several metabolites were consequently seen. The spectra from brains of healthy volunteers (n = 5) showed resonances from N-acetylaspartate, glutamine, aspartate, phosphocreatine/creatine, choline, taurine, and glycine. In five large brain meningiomas, resonances from N-acetyl-aspartate and phosphocreatine/creatine were either not visible or markedly decreased in intensity. The spectra from leg muscles of healthy volunteers showed resonances from protons in saturated fatty acyl chains, whereas resonances from unsaturated fatty acyl chains predominated in spectra from leg muscles of two patients with spina bifida. The spectra from livers of three healthy volunteers showed resonances from aliphatic and aromatic amino acids, choline, carnitine, and both saturated and unsaturated fatty acyl chains, and spectra from hearts of six healthy volunteers showed major resonances from phosphocreatine/creatine and taurine and smaller resonances from amino acids and fatty acyl chains.     

Proton magnetic resonance spectroscopy of late delayed radiation-induced injury of the brain.

We prospectively evaluated metabolite changes in late delayed radiation-induced injury to the temporal lobes on proton ((1)H) magnetic resonance spectroscopy (MRS) in 34 patients. Morphologically more severe injury on imaging tended to have lower N-acetyl aspartate (NAA)/creatine (Cr) and NAA/choline (Cho) ratios. A significantly higher Cho/Cr ratio was found in the most severe grade of cerebral necrosis, in which lactate might be present. The progressive decrease in NAA with increasing severity reflected neuronal loss at different stages of late delayed radiation-induced brain injury. The absence of Cho elevation in mild and moderate lesions did not suggest demyelination or glial hyperplasia as an etiologic mechanism of late delayed radiation-induced brain injury. The association of severe morphologic lesions with elevated lactate suggests ischemia as the underlying mechanism for severe lesions. (1)H MRS may provide metabolite information conducive to the understanding of the pathophysiology of late radiation-induced brain injury. J. Magn. Reson. Imaging 1999;10:130-137.     

Proton MR spectroscopic evaluation of suspicious brain lesions after stereotactic radiotherapy

BACKGROUND AND PURPOSE: The radiologic assessment of suspicious brain lesions after stereotactic radiotherapy of brain tumors is difficult. The purpose of our study was to define parameters from single-voxel proton MR spectroscopy that provide a probability measure for differentiating neoplastic from radiation-induced, nonneoplastic lesions. METHODS: Seventy-two lesions in 56 patients were examined using a combined MR imaging and MR spectroscopy protocol (point-resolved spectroscopy, TE = 135 ms). Signal intensities of cholines, creatines, N-acetyl aspartate, and the presence of lactate and lipid resonances were correlated to final diagnoses established by clinical and MR imaging follow-up, positron emission tomography studies, or biopsy/surgery. Statistical analysis was performed using the t test, linear discriminant analysis, and k nearest-neighbor method. RESULTS: Significantly increased signal intensity ratios I(tCho)/I(tCr) (P <.0001) and I(tCho)/I(NAA) (P <.0001) were observed in neoplastic (n = 34) compared with nonneoplastic lesions (n = 32) and contralateral normal brain (n = 33). Analysis of I(tCho)/I(tCr) and I(tCho)/I(NAA) data yielded correct retrospective classification as neoplastic and nonneoplastic in 82% and 81% of the lesions, respectively. Neither I(NAA)/I(tCr) nor signal intensitities of lactate or lipids were useful for differential diagnosis. CONCLUSION: Metabolic information provided by proton MR spectroscopy is useful for the differentiation of neoplastic and nonneoplastic brain lesions after stereotactic radiotherapy of brain tumors.     

Neurometabolism of active neuropsychiatric lupus determined with proton MR spectroscopy.

PURPOSETo determine the neurometabolism of patients with active neuropsychiatric systemic lupus erythematosus (NPSLE) by using proton MR spectroscopy.METHODSThirty-six patients with SLE and eight control subjects were studied with proton MR spectroscopy to measure brain metabolites. Peaks from N-acetylaspartate (NAA), creatine (Cr), choline (Cho), and at 1.3 parts per million (ppm) lipid, macromolecules, and lactate were measured. Patients were classified as having major NPSLE (seizures, psychosis, major cognitive dysfunction, delirium, stroke, or coma) (n = 15) or minor NPSLE (headache, minor affective disorder, or minor cognitive disorder) (n = 21). Patients with major NPSLE were severely ill and hospitalized.RESULTSSLE patients had lower NAA and increased metabolites at 1.3 ppm than did control subjects (NAA/Cr(SLE) = 1.90 +/- 0.35, NAA/Cr(Control) = 2.16 +/- 0.26; 1.3 ppm/Cr(SLE) = 0.49 +/- 0.41, 1.3 ppm/Cr(Control) = 0.27 +/- 0.05). NAA/Cr in patients with current or prior major NPSLE was lower than in patients without major NPSLE. Increased peaks at 1.3 ppm were present in all SLE subgroups, but particularly in patients with major NPSLE. These resonances were not evident at an echo time of 136, indicating that these signals were not lactate.CONCLUSIONMajor NPSLE, past or present, is associated with decreased levels of NAA. Elevated peaks around 1.3 ppm do not represent lactate even in severely ill patients, indicating that global ischemia is not characteristic of NPSLE. Neurochemical markers determined by MR spectroscopy may be useful for determining activity and degree of brain injury in NPSLE.     

Human brain infarction: proton MR spectroscopy.

Two-dimensional proton magnetic resonance (MR) spectroscopic imaging studies were performed of the distributions of the major hydrogen-1 metabolites of choline, creatine, N-acetyl aspartate (NAA) and lactate in normal (n = 6) and subacutely to chronically infarcted (n = 10) human brain. The two dimensions of phase encoding were applied over a 20-mm-thick section of brain tissue that had been selected with a double spin-echo localization method. Normal brain showed bilaterally symmetric metabolite distributions and no detectable lactate. Nine of 10 studies of brain infarction showed substantial decreases in NAA, creatine, and choline in the infarcted area compared with control areas; averaged for all studies, the decreases were 77% +/- 8, 63% +/- 11, and 54% +/- 12, respectively (mean +/- standard error). The decreased metabolite concentrations are probably due primarily to diminished cell density in the infarct. The decrease in NAA was larger than the decreases in choline and creatine. Findings in all of the studies showed lactate in the infarcted tissue and/or ventricles. The continued presence of lactate in the infarct indicates increased anaerobic glycolysis due to ischemia or other factors.     

1H COSY spectra of superfused brain slices of rat: ex vivo direct assignment of resonances

Realization of 1D 1H spectra of superfused brain slices of rats is described. Two-dimensional 1H-1H COSY spectra have been used for the direct assignment of resonances on living tissue (lactate, GABA, N-acetyl aspartate, aspartate, glutamine/glutamate, creatine/phosphocreatine, taurine, inositol, choline/ethanolamine). Utilization of the SUPERCOSY sequence permits simultaneously the enhancement of off-diagonal signals for small metabolites and the reduction of the signals for water and macromolecules.     

Juvenile Huntington disease: CT and MR features.

PURPOSETo describe the clinical and radiologic manifestations of juvenile Huntington disease and to determine whether adult imaging criteria for Huntington disease are helpful for pediatric patients.METHODSSix patients (3 to 18 years of age; mean age, 9.8 +/- 5.6 years; 3 female, 3 male) with juvenile Huntington disease were studied with CT (n = 6) and/or MR (n = 3). CT and MR studies were evaluated for frontal horn distance/intercaudate distance and bicaudate ratios, which were compared with those of 24 age-matched healthy children and 12 age-matched patients with Leigh (n = 9) or Wilson (n = 3) disease.RESULTSAtrophy of the caudate nuclei was identified in all Huntington patients. The frontal horn distance/intercaudate distance (1.64 +/- 0.39) and bicaudate (0.205 +/- 0.060) ratios of the patients with juvenile Huntington disease were found to be significantly different from those of healthy children and that of those patients with Leigh/Wilson disease. The 3 patients with Huntington disease who underwent MR evaluation were noted to have increased proton density- and T2-weighted signal in the caudate nuclei and putamina.CONCLUSIONAs in adult patients, the use of frontal horn distance/intercaudate distance and bicaudate ratios are helpful for the diagnosis of Huntington disease in pediatric patients. On MR, increased proton density- and T2-weighted signal in the atrophic caudate nuclei and putamina are additional features of juvenile Huntington disease.