Intracranial ultrasound abnormalities and fetal cytomegalovirus infection: report of 8 cases and review of the literature.

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) after pertussis infection.

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.

Genotype-phenotype correlation in vanishing white matter disease.

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.

Reduced gray matter volume in the frontotemporal cortex of patients with early subacute sclerosing panencephalitis.

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.

Prenatal diagnosis of diastematomyelia: presentation of eight cases and review of the literature.

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 echogenic 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 alpha-fetoprotein (AF-AFP) and acetylcholinesterase (AF-AChE) and the pregnancy was terminated. The other seven cases of diastematomyelia had 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 had normal biochemistry and/or no additional abnormalities and all had 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.

Quantification of neurometabolites in subacute sclerosing panencephalitis by 1H-MRS.

The authors studied 20 patients with subacute sclerosing panencephalitis (SSPE) to investigate the correlations between MRI, magnetic resonance spectroscopy (MRS), and clinical status. MRI findings did not correlate with clinical status. By contrast, all patients had reductions in N-acetyl aspartate (NAA) and increase in myoinositol (mI) (p < 0.01), and NAA and mI concentrations correlated with clinical severity (p < 0.05). During follow-up, NAA continued to decline. (1)H-MRS may be a useful measure of disease severity and progression in SSPE.