Serial Brain MRI Findings in CNS Involvement of Familial Erythrophagocytic Lymphohistiocytosis: A Case Report

Familial erythrophagocytic lymphohistiocytosis is a fatal early childhood disorder characterized by multiorgan lymphohistiocytic infiltration and active hemophagocytosis. Involvement of the central nervous system (CNS) is not uncommon and is characterized by rapidly progressive tissue damage affecting both the gray and white matter. We encountered a case of familial erythrophagocytic lymphohistiocytosis with CNS involvement. Initial T2-weighted MRI of the brain demonstrated high signal intensity in the right thalamus, though after chemotherapy, which led to the relief of neurologic symptoms, this disappeared. After four months, however, the patient's neurologic symptoms recurred, and follow-up T2-weighted MR images showed high signal intensity in the thalami, basal ganglia, and cerebral and cerebellar white matter. Brain MRI is a useful imaging modality for the evaluation of CNS involvement and monitoring the response to treatment.

Imaging Findings of Atypical Teratoid/Rhabdoid Tumor of Infancy & Childhood in CNS: Report of Two Cases

Atypical teratoid/rhabdoid tumor rarely occurs in the CNS, though is most common in infants under two years of age. It is characterized by unique histologic features, has an extremely aggressive natural course, and is located mainly in the infratentorial region. Radiologically, it is difficult to distinguish from primitive neuroectodermal tumor or medulloblastoma. We report the radiologic findings of two cases of atypical teratoid/rhabdoid tumor.

MR Imaging of Fukuyama Congenital Muscular Dystrophy: A Case Report

Fukuyama congenital muscular dystrophy is a genetic disease and common in Japan. The typical clinical features are hypotonia with an early infantile onset and severe developmental delay. The diagnosis is based on pathologic evidence of muscular dystrophy revealed by biopsy or an increased serum creatine kinase levels. Involvement of the brain is characterized by abnormal cerebral cortical dysplasia, cerebellar dysplasia, and white matter changes. We encountered a case of Fukuyama congenital muscular dystrophy in which brain MRI findings were typical, and present this case together with a review of the literature.

Prominent Extraaxial CSF Space on Cranial Ultrasound in Infants: Correlation with Neuro d evelopmental Outcome

PURPOSE: To determine the clinical significance of prominent extra-axial CSF space (EACSFS) in infants, as seen on cranial ultrasound. MATERIALS AND METHODS: Between March 1996 and November 1997, all infants who had undergone head ultrasound at our institution and were found to have prominent EACSFS were evaluated. The width of the interhemispheric fissure was measured at three locations at the level of the frontal horn, body and atrium of the lateral ventricles. The depth of the CSF space over the convexity was also measured. The average of these measurements was calculated and each patient was assigned to one of three groups: mild, moderate, or marke d. Ultrasound findings were evaluated for other associated abnormalities. Clinical neurodevelopment was evaluated by a pediatric neurologist, and ultrasound and neurodevelopmental findings were correlated. RESULTS: Prominent EAC S FS was found in 153 patients, and neurodevelopmental evaluation up to a corrected age of 9 months was available in 133. One hundred and eight of 117 infants with normal neurodevelopment had no other associated abnormality (n=81), or abnormality associated only with grade I subependymal hemorrhage or cyst (n=27). Twe l ve of 16 infants with an abnormal neurodevelopmental outcome had major abnormalities including PVL, grade IV hemorrhage, and marked ventriculomegaly. CONCLUSION: Prominent EAC S FS alone does not appear to be clinically significant. An abnormal neurodevelopmental outcome is associated with major abnormalities seen on ultrasound. Follow-up examination for prominent EAC S FS is not indicated unless the associated abnormality requires further evaluation.

The Choroid Plexus in Normal Full-term Neonate: A Study of Morphological Variety on Sonography

PURPOSE: The purpose of this study was to evaluate the sonographic features of normal choroid plexus, thushelping avoid misinterpretations such as intraventricular hemorrhage or abnormality. MATERIALS AND METHODS: Posterior coronal, parasagittal, and oblique sagittal scans of 400 choroid plexus in normal full-term neonates(100girls, 100 boys) were reviewed with special attention to coronal configuration, glomus patterns,and the shape ofanterior ends. Sonographic features were classified as follows ; tubular(type 1), posterior clubbing(type 2),mid-bulging(type 3), or double choroidal pattern(type 4), as seen on posterior coronal scans; crescent(type1),superior notching(type 2), dorsal bulging(type 3), or inferior notching(type 4), as seen on parasagittal scans;and anterior tapering(type 1) and clubbing shape (type 2) on oblique parasagittal scans. Maximal diameters of thechoroid plexus on posterior coronal scan and the glomus on parasagittal scan were measured. All sonographicmeasurements of normal choroid plexus were statistically analysed according to gender and side. RESULTS: Fourhundred normal choroid plexus were classified as 293 cases(73%) of tubular pattern(type 1), 50 cases(13%) ofposterior bulging(type 2), 44 cases (11%) of mid-bulging(type 3) and 13 cases(3%) of double choroidal pattern(type 4) as seen on posterior coronal scans ; 263 cases(66%) of crescent shape(type 1), 70 cases(17%) of superiornotching (type 2), 38 cases(9%) of dorsal bulging(type 3), and 29 cases(7%) of inferior notching(type 4), as seenon parasagittal scans; and 233 cases(58%) of anterior tapering(type 1) and 167 cases(42%) of anterior clubbing(type 2), as seen on oblique parasagittal scans. Maximal diameters of the choroid plexus on posterior coronal scanwere 7.17 +/-0.12 mm (95% confidence interval [CI]) on the right side and 7.13 +/-0.19mm (95% CI) on the left side,and 8.13 +/-0.24(95% CI) mm on the right and 8.57 +/-0.29mm on the left side glomus on parasagittal scan. There wereno significant statistical differences with regard to gender and side. CONCLUSION: We have observed themorphological variety of the choroid plexus in normal full-term neonates on ultrasonograms and believe that aknowledge of the various sonographic patterns involved can help differentiating normal choroid plexus fromintraventricular hemorrhage or choroidal abnormality.

Lenticulostriate Vasculopathy of Brain Ultrasonography

PURPOSE: To describe the associated conditions and clinical significance of lenticulostriate uasculopathy (LSV) as demonstrated by cranial sonography. MATERIALS AND METHODS: We retrospectively studied 77 LSV cases who between January 1994 and January 1996 had undergone cranial sonography for neonatal asphyxia, seizure, or bulging of anterior fontanel. Cranial sonography was performed with 7 MHz real-time linear and sector transducers using an Acuson computed sonography unit ; examinations were performed in sagittal and coronal planes. Twenty-six LSV patients underwent color Doppler studies, and in 24 of these, color signal and arterial pulse spectral wave were detected. LSV was grouped as one of three types, according to echogenicity : type I (less echogenic than sylvian fissure), type II (similar to sylvian fissure), and type III (more echogenic than sylvian fissures). We retrospectively evaluated associated sonographic abnormalities of the brain, and reviewed medical records for associated conditions and neurologic sequelae. Follow-up sonographic examinations were performed in 23 patients. RESULTS: There were 56 type I cases (73 %), 17 of type II (22 %) and 4 of type III (5 %). Cranial sonographic results were normal in 36 cases (47 %) and abnormal in 41(53 %). Forty-eight cases of nonspecific causes and 29 cases of perinatal and acquired causes accounted for associated conditions. The echogenicity of LSV had not changed in 21 of 23 follow-up cases. Neurologic examinations were performed in 18 cases and in 14 of these (78 %) there was no neurologic sequela. CONCLUSION: LSV in basal ganglia may be associated with nonspecific neonatal conditions, in addition to well known perinatal causes.