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Objectives: The aim of this study was to evaluate fetal intracranial and other ultrasonographic findings in cytomegalovirus (CMV) infection. Methods: Data on amniotic fluid CMV-DNA-PCR-positive pregnancies detected in our institution between January 2006 and June 2009 were reviewed retrospectively. Fetal biometric measurements, fetal anatomy, amniotic fluid volume, placental thickness and texture were analyzed for abnormalities. Results: Eight fetuses were diagnosed with congenital CMV infection during the study interval. Their mean gestational age at diagnosis was 25.8 weeks (range: 23–29). All fetuses had intracranial abnormalities; increased periventricular echogenicity (n = 7), ventriculomegaly (n = 5), intracranial calcifications (n = 4), intraventricular adhesions (n = 4), thalamic hyperechogenicity (n = 3), mega cisterna magna (n = 3), lissencephaly (n = 2), vermian defect (n = 2) and cerebellar cyst (n = 1). All of them had accompanying extracranial findings, including hyperechogenic bowel (n = 6), cardiomegaly (n = 3), pericardial effusion (n = 2) and hepatosplenomegaly (n = 1). Intrauterine growth retardation was detected in 3 cases. Five pregnancies were terminated, and 1 intrauterine death occurred. The remaining 2 delivered vaginally at term. One of the live-born babies suffers from tetraparesis, mental retardation and autism, and the other has mild hemiplegia. Conclusions: The spectrum of sonographic findings may vary widely in patients with congenital CMV infection in the prenatal period. CMV should be kept in mind in differential diagnosis, particularly in fetuses with intracranial sonographic findings such as ventriculomegaly, calcifications, intraventricular adhesions and increased periventricular echogenicity.

Acute disseminated encephalomyelitis (ADEM) is an immune-mediated demyelinating disorder of the central nervous system which is usually precipitated by a viral infection or vaccination. A 3-month-old boy is reported who developed ADEM a week after full recovery from pertussis. MRI detected a high-intensity lesion extending from the pons to the mesencephalon, compatible with ADEM. Following the administration of intravenous immunoglobulins, the patient's clinical symptoms improved. This case report demonstrates that pertussis is capable of inducing an immune-mediated demyelinating disorder of the central nervous system.

Objective: Vanishing white matter (VWM) is an autosomal recessive leukoencephalopathy characterized by slowly progressive ataxia and spasticity with additional stress-provoked episodes of rapid and major deterioration. The disease is caused by mutations in the genes encoding the subunits of eukaryotic initiation factor 2B, which is pivotal in translation of mRNAs into proteins. The disease onset, clinical severity, and disease course of VWM vary greatly. The influence of genotype and gender on the phenotype is unclear. Methods: From our database of 184 patients with VWM, we selected those with the following mutations in the gene EIF2B5: p.Arg113His in the homozygous state (n = 23), p.Arg113His in the compound-heterozygous state (n = 49), p.Thr91Ala in the homozygous state (n = 8), p.Arg113His/p.Arg339any (n = 9), and p.Thr91Ala/p.Arg339any (n = 7). We performed a cross-sectional observational study. Evaluated clinical characteristics were gender, age at onset, age at loss of walking without support, and age at death. Means, male/female ratios, and Kaplan-Meier curves were compared. Results: Patients homozygous for p.Arg113His had a milder disease than patients compound heterozygous for p.Arg113His and patients homozygous for p.Thr91Ala. Patients with p.Arg113His/p.Arg339any had a milder phenotype than patients with p.Thr91Ala/p.Arg339any. Overall, females tended to have a milder disease than males. Conclusions: The clinical phenotype in VWM is influenced by the combination of both mutations. Females tend to do better than males.

BACKGROUND AND PURPOSE: Subacute sclerosing panencephalitis (SSPE) is a persistent infection of the central nervous system by the measles virus.Patients in the initial stages of SSPE show behavioral symptoms and usually normal cranial MR imaging findings.We aimed to investigate the gray matter volume changes in patients with early SSPE. MATERIALS AND METHODS:Seventeen patients with SSPE with normal cranial MR imaging findings and 30 sex-and age-matched control subjects were included in the study.Clinical parameters of the patients were quantified by using a neurologic disability index (NDI) as defined previously.We obtained T1-weighted magnetization-prepared rapid acquisition gradient echo images from the patients and control subjects, and we applied an optimized method of voxel-based morphometry.We performed a cross-sectional analysis to search the gray matter volume differences between the patients and control subjects.The correlation between the gray matter distribution and the duration of symptoms, immunoglobulin G index, and NDI scores was tested. RESULTS:We found that the cortical gray matter volume of patients was reduced in the frontotemporal regions including the bilateral cingulate cortex and amygdala.There was no correlation between the gray matter distribution of patients and the duration of symptoms or the NDI scores. CONCLUSIONS:The current study demonstrated gray matter volume reduction in the frontotemporal cortex of patients with SSPE without any apparent lesions on conventional MR imaging.Because the cingulate cortex and amygdala are involved in emotion processing, gray matter loss in these regions may contribute to the development of early behavioral symptoms of SSPE.

Objectives Diastematomyelia is a rare form of spinal dysraphism. We present eight cases of diastematomyelia diagnosed prenatally in our institution as well as a review of the literature in order to determine the prognosis of isolated cases of this very unusual condition.Methods Records of fetuses with diastematomyelia diagnosed in our institution between January 2000 and June 2005 were collected. All liveborn fetuses were examined by a pediatric neurologist. Pre- and postnatal data were analyzed. A search was then conducted using PubMed to review previously reported cases in the literature.Results Eight cases of diastematomyelia were diagnosed during the study interval. The mean (range) gestational age at diagnosis was 21 (13-25) weeks. The main sonographic findings were widening of the spinal canal in the coronal view and an additional ecbogenic focus in the posterior part of the spinal column in the axial view. The diagnosis of associated open spina bifida was made in one fetus with elevated levels of amniotic fluid a-fetoprotein (AF-AFP) and acetylcholinesterase (AF-AChE) and the pregnancy was terminated. The other seven cases of diastematomyelia bad normal levels of AF-AFP and AF-AChE and were considered isolated. One pregnancy miscarried spontaneously 1 week following amniocentesis and the remaining six were delivered at term. Review of the literature revealed 14 reports involving 26 cases of prenatally diagnosed diastematomyelia. Twelve cases bad normal biochemistry and/or no additional abnormalities and all bad a favorable outcome.Conclusions When diastematomyelia is not associated with other spinal anomalies, the prognosis is favorable. Prenatal diagnosis is generally made in the second trimester but sonographic signs may be recognized as early as the first trimester. Intrauterine diagnosis of diastematomyelia should facilitate appropriate management of affected cases. Copyright (c) 2007 ISUOG. Published by John Wiley & Sons, Ltd.

We report a 16-month-old girl who presented with global developmental delay and hearing loss. Cranial magnetic resonance imaging demonstrated a pattern that could be interpreted as a "new leukoencephalopathy." Etiologic investigations revealed a positive polymerase chain reaction for cytomegalovirus DNA using her stored Guthrie card, indicating a congenital cytomegalovirus infection.

To discuss the prenatal diagnosis of diastematomyelia and outline the outcome of isolated cases. We present eight cases of diastematomyelia where the diagnosis was based on the visualization of a sagittal bony spur in the spinal canal on prenatal ultrasound. Information on the postnatal outcome of diastematomyelia without additional abnormal findings was available from four cases. These were born at term and one of them needed an operation immediately following the birth. The operated baby had tethered cord as a consequence of diastematomyelia, and had minimal neurologic weakness on the lower extremities after surgery. Others were symptom free and still in under surveillance of pediatric neurology unit. Three of the babies had considerable hair bunch on the site of the diastematomyelia in physical examination. Diagnosis of diastematomyelia is confirmed in all cases with MRI and one of them also had a lipoma on the diastematomyelia location. Among the remaining four cases, pregnancies are still continuing with normal alpha-fetoprotein (AS-AFP) and acetylcholine esterase (ACE) levels in two cases. Pregnancy terminated in a case, in which amniotic fluid was positive for AS-AFP and ACE, with a fetus had diastematomyelia associated with open spina bifida. Another case had miscarriage one month after the amniocentesis. None of the cases had chromosomal abnormality. Pregnancy should be managed differently depending on whether the diastematomyelia is isolated, or is in association with more serious neural tube defects. The cases without additional findings and with normal levels of AS-AFP and ACE usually have good outcome, although surgery may be necessary, and there is a risk of neurologic compromise.

OBJECTIVE:Developmental delay is a common pediatric problem, having a great number of underlying causal factors. Etiologic diagnosis is important for providing information about pathogenesis, prognosis, recurrence risk and specific medical interventions. The aim of this study was to determine the etiologic yield and spectrum of a consecutive cohort of global developmentally delayed children.METHODS:This retrospective study included all children younger than 5 years of age with global developmental delay referred to a single university-based ambulatory pediatric neurology clinic for initial evaluation over a 14-month period from January 1997. Diagnostic studies consisted of history, physical examination, electroencephalography and selected investigations including neuroimaging, screening for metabolic disease, karyotype and fragile X testing.RESULTS:In the study 247 patients (136 males) with a mean age of 24.2+/-20.3 months were evaluated. Etiologic diagnosis was determined in 64 per cent of the patients classified under the following categories: perinatal complications (21 per cent), cerebral dysgenesis (18 per cent), chromosomal abnormalities (9 per cent), genetic/dysmorphic syndromes (3 per cent), metabolic disorders (4 per cent), hypothyroidism (4 per cent), neurocutaneous syndromes (3 per cent), intrauterine infection (2 per cent). Etiology was unknown in 36 per cent of the patients. Two laboratory tests (neuroimaging and cytogenetic analysis) together with the history and physical examination were most helpful in determining the etiologic diagnosis.CONCLUSION:This study suggests that optimal management of global developmentally delayed children and their family should involve a comprehensive evaluation.

Topiramate (TPM) has peculiar side effects such as speech difficulties, weight loss, oligohidrosis and hyperthermia. We present the frequency and severity of hypohidrosis in our patients under TPM treatment. One hundred and two patients treated with TPM were evaluated retrospectively. Five (8 months-15 years of age) of them experienced symptomatic hypohidrosis manifested with prolonged or intermittent fever. Pilocarpine iontophoresis sweat test had been performed on the five patients before they were managed, and no sweat had been collected in 4/5 cases. Of the 102 patients, 42 who started TPM treatment when the study was established were evaluated prospectively regarding oligohidrosis. First, they were questioned about whether hypohidrosis occurred after TPM. Of 42, 11 patients complained of hypohidrosis. A sweat test was then performed on these 11 patients. Sweat could not be obtained in 5/11, and increased chloride concentration was found in 4/11. However, sweat could be obtained in the patients who had no complaint of hypohidrosis. Pediatricians should be aware of this side effect of TPM to prevent nonrelevant and cumbersome investigations in patients with prolonged or intermittent fever onset during TPM treatment. Our findings suggest that 5% of patients would experience hyperthermia during TPM treatment. Hypohidrosis without hyperthermia would be more frequent. If it is possible to collect sweat in patients who get fever during TPM treatment, it would be highly probable that the fever is not due to hypohidrosis. Increased chloride concentration alone does not seem to be significant for the hyperthermia risk.

Neuroblastoma, a common tumor of neural crest origin, demonstrates an extremely variable clinical presentation and behavior. Paraspinal tumors may occur anywhere along the spinal column where they may invade the intervertebral foramina and produce cord compression. Cervical involvement may produce Horner's syndrome. Opsoclonus-myoclonus syndrome is also a well-known neuroimmunologic finding of neuroblastoma. We report a 28-month-old female presenting with ptosis and muscle weakness, diagnosed as having a neuroblastoma.