Meningitis associated with HHV-7 in an Iranian immunocompetent adolescent girl.

There is limited literature regarding meningitis associated with HHV-7. This article reports an immunocompetent adolescent girl who developed fever, headache, and meningism which CSF molecular analysis with PCR was positive only for HHV-7. Interestingly, persistent cavum septum pellucidum and cavum vergae were observed on brain magnetic resonance imaging. The patient received antibiotics, dexamethasone, and acyclovir and then she gained full recovery. HHV-7 is a rare and yet possible pathogen in patients with meningitis, and this is the first described case report from Iran.

What Are the Double Lines of the Fetal Cavum Septi Pellucidi on Ultrasound?

OBJECTIVE: To demonstrate the significance of the double line appearance of the septi pellucidi laminae (SPL) on fetal ultrasound. METHOD: A total of 522 uncomplicated singleton pregnancies (15 to 39 weeks' gestational age) with fetal ultrasounds were enrolled. The presence of a single versus double line SP as well as measurement of the cavum septi pellucidi (CSP) was determined retrospectively. Ultrasound settings from the CSP images were recorded. Thickness of the SPL was measured in 20 ultrasound and 14 MRI cases; histology was reviewed from one neonate. Maternal BMI and gestational age were also recorded. RESULTS: The presence of double line SPL is a normal sonographic finding, seen in 47% (188/403) of normal fetuses. Thickness of the SPL in 10 cases with double line averaged 1.4 mm and in 10 cases with single line averaged 0.8 mm; MRI measurements were within 0.1 mm of the corresponding ultrasound measurements. Double line cavum was more often seen with mid-dynamic contrast range settings (5, 6) rather than high range settings (7-10) (P value <.05). The double line was only visualized on ultrasound when the angle of insonation was at or near perpendicular to the laminae; it was never visualized on coronal ultrasound imaging or MRI imaging. CONCLUSION: A double line septum pellucidum lamina is a normal finding seen in almost 50% of uncomplicated singleton pregnancies. It may be attributed to borders of cell layers within each lamina that form separate specular reflections on both sides; this can be accentuated by ultrasound settings and beam angulation.

EVEN-PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction.

EVEN-PLUS syndrome is a rare condition characterized by its involvement of the Epiphyses, Vertebrae, Ears, and Nose, PLUS other associated findings. We report here the fifth case of EVEN-PLUS syndrome with novel variants c.818 T > G (p.L273X) and c.955C > T (p.L319F) in the HSPA9 gene identified through whole-exome sequencing. The patient is the first male known to be affected and presented with additional features not previously described with EVEN-PLUS syndrome. These features include agenesis of the septum pellucidum, a short chest and sternum, 13 pairs of ribs, a single hemivertebra, laterally displaced nipples, hydronephrosis, unilateral cryptorchidism, unilateral single palmar crease, bilateral clubfoot, and hypotonia. qPCR analysis provides supporting evidence for a nonsense-mediated decay mechanism for the HSPA9 truncating variant. In silico 3D modeling supports the pathogenicity of the c.955C > T (p.L319F) missense variant. The study presented here further describes the syndrome and broadens its mutational and phenotypic spectrum. Our study also lends support to HSPA9 variants as the underlying etiology of EVEN-PLUS syndrome and ultimately provides a better understanding of the molecular basis of the condition.

Predictors of decompressive hemicraniectomy in malignant middle cerebral artery stroke.

Identification of factors in malignant middle cerebral artery (MMCA) stroke patients that may be useful in selecting patients for DHC. This study was a retrospective multicenter study of patients referred for DHC based on the criteria of the randomized control trials of DHC in MMCA stroke. Demographic, clinical, and radiology data were analyzed. Patients who underwent DHC were compared to those who survived without surgery. Two hundred three patients with MMCA strokes were identified: 137 underwent DHC, 47 survived without DHC, and 19 refused surgery and died. Multivariate analysis identified the following factors determining DHC in MMCA stroke: age < 55 years (OR 8.5, 95% CI 3.3-22.1, P < 0.001), MCA with involvement of additional vascular territories (anterior cerebral artery, posterior cerebral artery (OR 4.8, 95% CI 1.5-14.9, P = 0.007), septum pellucidum displacement ≥ 7.5 mm (OR 4.8, 95% CI 1.9-11.7, P = 0.001), diabetes (OR 3.7, 95% CI 1.3-10.6, P = 0.012), infarct growth rate (IGR) ml/h (OR 1.11, 95% CI 1.02-1.2, P = 0.015), and temporal lobe involvement (OR 2.5, 95% CI 1.01-6.1, P = 0.048). The internal validation of the multivariate logistic regression model using bootstrapping analysis showed marginal bias. Among patients with MMCA infarctions, an increased possibility of DHC is associated with younger age, MCA with additional infarction, septum pellucidum deviation of > 7.5 mm, diabetes, IGR, and temporal lobe involvement. The presence of these risk factors identifies those MMCA stroke patients who may require DHC. Bootstrapping analysis indicated the model is good enough to predict the outcome in general population.

Enlarged Cavum Septi Pellucidi and Vergae in the Fetus: A Cause for Concern.

OBJECTIVES: To investigate fetal cases identified at our institution to determine whether an enlarged cavum septi pellucidi or cavum vergae is associated with other fetal abnormalities and whether its presence warrants more detailed investigation of the fetus. METHODS: In a retrospective study, 15 high- and low-risk patients undergoing prenatal sonography who had an enlarged cavum septi pellucidi or cavum vergae identified were reviewed. Data were collected for the sonographic study indication, gestation age at diagnosis of a prominent cavum, and associated anomalies. Follow-up outcome data regarding further imaging, karyotype, diagnosis of brain anomaly, and associated congenital abnormalities were obtained. RESULTS: Fifteen patients met the inclusion criteria. Nine patients were identified as having a prominent cavum septi pellucidi, and 6 were identified as having a prominent cavum vergae. The mean gestational age ± SD was 22.7 ± 5.9 weeks. Eleven patients made it to delivery. Of the 15 patients, 4 were thought to have trisomy 21, and 13 had congenital anomalies. Outcomes included 10 major adverse outcomes, 4 cases with normal development or minor abnormalities, and 1 lost to follow-up. An isolated dilated cavum on prenatal sonography was seen in 5 cases: 1 with lissencephaly on a neonatal examination, 3 premature deliveries (1 demise, 1 hospice, and 1 normal), and 1 unknown. CONCLUSIONS: Our cohort had many associated clinical anomalies: 3 confirmed trisomy 21 and 1 probable trisomy 21, 2 genetic disorders, and 10 major adverse outcomes, 5 of which were grave. Although we studied a small cohort, we conclude that an enlarged cavum septi pellucidi or cavum vergae warrants consideration of genetic counseling, which may include noninvasive prenatal testing (cell-free DNA), amniocentesis with microarray testing, or both.

Clinical and neuroradiological features of the 9p deletion syndrome.

BACKGROUND: The 9p deletion syndrome is a rare condition, which associates trigonocephaly, facial dysmorphism and developmental delay. The neuroradiological aspects of this syndrome have not yet been described. The purpose of this article is to identify the clinical and neuroradiological features, that should be recognized by all specialists treating these children, for a proper and early diagnosis. METHODS: Among patients with trigonocephaly treated at our institution, we retrospectively analyzed the clinical and neuroradiological aspects of children with genetically confirmed 9p deletion syndrome. RESULTS: 6 patients were identified. Beside trigonocephaly, the most frequent clinical findings were small ears, long philtrum, upslanting palpebral fissures, flat nasal bridge and variable psycho-motor delay. Hypertelorism was present in 4 of 6 patient, which is opposite to the hypotelorism typical of non-syndromic trigonocephaly. Among neuroradiological findings, large, anteriorly rotated sylvian cisterns and altered shape of the septum pellucidum were found in all patients, as well as the compression of the frontal cortex due to the metopic synostosis (MS). A thin or dysmorphic corpus callosum and a diffuse white matter hypoplasia were present in more than half of the cases. Futhermore we compared these MRI findings with those of a control group of 30 non-syndromic trigonocephalies. CONCLUSIONS: Some recurrent neuroradiological alterations can be found in 9p deletion syndrome. The presence of these signs on MRI of a trigonocephalic patient should raise the suspicion of an underlying chromosomal alteration, such as the 9p deletion syndrome and prompt genetic investigations.

Abnormal shape of the cavum septi pellucidi: an indirect sign of partial agenesis of the corpus callosum.

OBJECTIVE: To describe and assess the presence of a new indirect sign of partial agenesis of the corpus callosum (pACC): an abnormally shaped cavum septi pellucidi (CSP). METHODS: We analyzed retrospectively images from all 71 cases of pACC seen at two referral centers between September 2006 and April 2014. Abnormally shaped CSP was diagnosed when its lateral dimension was greater than its anteroposterior dimension in the axial transthalamic plane, and the incidence of this sign was assessed. We also examined the following variables: gestational age at referral, indication for referral, which (if any) of the four corpus callosal segments were abnormal, presence of other, previously established, indirect signs of callosal agenesis (ACC) and presence of additional cerebral or extracerebral anomalies. RESULTS: In 56 of the 71 (79%) cases, the CSP was measurable; it was abnormally shaped in 19 (34%) of these cases, 15 (79%) of which had no other indirect signs of pACC. Of 23 cases with isolated pACC and no other indirect signs, 12 (52%) had an abnormally shaped CSP. CONCLUSIONS: In a significant proportion of cases of pACC detected prenatally, the shape of the CSP is abnormal. This should be considered an additional indirect sign of pACC, and is frequently the only clue to the diagnosis. When observing this sign in a screening context, pACC should be considered, and an attempt to visualize the corpus callosum directly in the midsagittal plane is suggested.

Anterior and posterior complexes: a step towards improving neurosonographic screening of midline and cortical anomalies.

OBJECTIVE: To describe the anatomical structures that form the anterior (AC) and posterior (PC) complexes of the fetal brain and to categorize their anomalies in fetuses with cerebral abnormalities. METHODS: We analyzed retrospectively volume datasets from 100 normal fetuses between 20 and 30 weeks' gestation. On the axial transventricular plane, our analysis of the AC included the interhemispheric fissure (IHF), the callosal sulcus (CS), the genu of the corpus callosum (CC), the cavum septi pellucidi (CSP) and the anterior horns (AH) of the lateral ventricles. The PC included the splenium of the CC, the medial wall of the lateral ventricles, the CS and the parieto-occipital fissure (POF). We then categorized AC/PC findings in 32 fetuses with agenesis of the septi pellucidi, schizencephaly, callosal dysgenesis, cortical malformation and hypoxic-ischemic brain injury. RESULTS: The structures forming the AC and PC were visible in 100% and 92%, respectively, of normal cases. In the AC, the CSP was square-shaped in 73% of cases and it was triangular in 27%; the AH was comma-shaped in 92% of cases and triangular in the remainder. In the PC, the splenium of the CC interrupted and bridged the midline and was delimited posteriorly by the CS and the IHF. The POF was visible posteriorly. We categorized AC and PC abnormalities according to the main deviation from normality in their anatomical structures. The AC was abnormal in 30/32 cases and the PC was abnormal in 16/32 cases. In the two cases with normal AC, the PC was abnormal. CONCLUSION: Normal appearance of AC and PC seems to be a strong indicator of fetal central nervous system normality. Morphological abnormalities in both complexes are robust markers of midline defects, but not exclusively so. The majority of fetuses with cortical malformations showed a defect in the AC.

Cavernoma of the septum pellucidum in the region of foramen of Monro.

A rare case of cavernoma in the region of the septum pellucidum is reported. A 35-year-old female patient presented with chronic headaches. Her neurological exam was normal. Her magnetic resonance (MR) imaging showed a lesion within the inferior aspect of the septum pellucidum extending into the anterior third ventricular region, blocking the foramen of Monro, resulting in moderate supratentorial asymmetrical hydrocephalus. A central neurocytoma or subependymoma was suspected on imaging. Complete excision of the septum pellucidum cavernoma was performed using microneurosurgical techniques through an interhemispheric transcallosal route. The patient had an excellent outcome and is cured. Although rare, septum pellucidum cavernomas should be considered in the differential diagnosis of anterior third ventricular lesions in the region of foramen of Monro. The unusual location, atypical radiological features, differential diagnosis as well as surgical nuances in the management of a cavernoma in the septum pellucidum and anterior third ventricular region are discussed in the light of current literature.

Rhombencephalosynapsis as a cause of aqueductal stenosis: an under-recognized association in hydrocephalic children.

BACKGROUND: Rhombencephalosynapsis is a rare genetic aberration characterized by variable vermian hypoplasia/aplasia in conjunction with united cerebellar hemispheres. Genetic defects in the isthmic organizer at the mesencephalic-metencephalic junction are presumably responsible for the associated aqueductal stenosis. OBJECTIVE: We performed a retrospective review of 20 children with rhombencephalosynapsis to evaluate for and emphasize the association of aqueductal stenosis and hydrocephalus. MATERIALS AND METHODS: We retrospectively reviewed the MR and CT images of 20 children (0-11 years old) with rhombencephalosynapsis encountered at two academic children's hospitals. Rhombencephalosynapsis spectrum severity was graded based on pre-existing literature. We analyzed examinations for ventriculomegaly and degree of aqueductal stenosis. The collicular distances were measured from the collicular apices. Imaging studies were also analyzed for malformations of cortical and cerebellar development. RESULTS: Thirteen of the 20 children (65%) with rhombencephalosynapsis presented with clinical or imaging evidence of hydrocephalus and aqueductal stenosis, principally involving the caudal cerebral aqueduct. All children with aqueductal stenosis had collicular fusion. All six children with complete rhombencephalosynapsis had aqueductal stenosis. The cerebral aqueduct varied from normal to stenotic in children with incomplete rhombencephalosynapsis. Corpus callosum dysgenesis was present in four children. CONCLUSION: Aqueductal stenosis in the setting of rhombencephalosynapsis is an under-recognized cause of noncommunicating hydrocephalus. Our findings support the hypothesis that a defect involving the common gene(s) responsible for the differentiation and development of both the roof plate and midline cerebellar primordium at the mesencephalon/first rhombomere junction may be responsible for the association of aqueductal stenosis and rhombencephalosynapsis.

Adult idiopatic occlusion of Monro foramina: intraoperative endoscopic reinterpretation of radiological data and review of the literature.

Adult idiopathic occlusion of the foramen of Monro (AIOFM) is a rare condition, with only few cases described in the modern literature. We propose that AIOFM may result from unilateral or bilateral occlusion of Monro foramina, as well as from progression of a monolateral hydrocephalus. Different surgical strategies may be required for effective treatment according to the type of occlusion. To date, only 12 cases of AIOFM have been reported in the literature. We report the cases of two patients, aged 20 and 47 years respectively, who presented with intracranial hypertension secondary to bilateral ventricular dilatation due to obstruction at the level of the foramen of Monro. Both patients were successfully treated with endoscopic fenestration of the primarily obstructed foramen of Monro and, in one patient, fenestration of the septum. We propose that septum pellucidum displacement could play a role in the occlusion of the second foramen of Monro. AIOFM can, therefore, result also from unilateral stenosis of Monro. The difference in AIOFM (i.e. unilateral vs bilateral) will be useful in guiding the most suitable surgical approach in this rare condition.

Incidental findings on preoperative computed tomography for nonsyndromic single suture craniosynostosis.

Although the diagnosis of nonsyndromic single suture craniosynostosis (NSSC) can usually be made by clinical examination, computed tomography (CT) is still commonly used in preoperative evaluation. This practice has been questioned in light of recent studies that document a small, but measurable, increased risk of malignancy from CT-associated radiation. The purpose of this study was to examine whether preoperative CT for patients with NSSC provided clinically important information beyond confirmation of craniosynostosis. We performed a retrospective analysis of all patients with NSSC undergoing cranial vault remodeling at our center from March 1999 to March 2011. Only patients with complete preoperative CT scans available for review were included. Staff pediatric neurosurgeons were blinded to patient diagnosis and official radiology report, analyzed the CT images, and documented the site of synostosis and any other findings. Of the 231 patients, 80 met the inclusion criteria. Sites of synostosis included sagittal (51 patients), coronal (17 patients), metopic (11 patients), and frontosphenoidal (1 patient). Clinical diagnosis correlated with radiographic site of fusion in all patients except the patient with frontosphenoidal synostosis. Incidental findings were documented in more than 50% of the patients including prominent extra-axial cerebrospinal fluid (n = 36, 45%), ventriculomegaly (n = 5, 6.25%), choroid fissure cyst (n = 2), cavum septum pellucidum (n = 2), Chiari malformation (n = 1), and prominent perivascular space (clinically nonsignificant finding, n = 1). Incidental findings required additional follow-up or management in 5 patients (6.25%). Our findings support the use of preoperative imaging in this population to identify intracranial anomalies that cannot be discerned by clinical examination. Whereas many findings were not clinically important, some required additional attention.

Prevalence of cavum septum pellucidum and/or cavum Vergae in brain computed tomographies of Taiwanese.

OBJECTIVE: The reported prevalence of cavum septum pellucidum (CSP) and cavum Vergae (CV) in brain computed tomography (CT) is 5.5% in Great Britain and 1.24% in China but unknown in Taiwan. Moreover, CSP and/or CV has generally been thought to decrease as age progresses, but the evidence of actual prevalence at different age levels is still limited in the literature. METHODS: A total of 19,031 patients with brain CT at a regional hospital in northern Taiwan from July 2008 to August 2010 were included in this study. Their radiological official reports were retrospectively reviewed to check for CSP and/or CV. An X2 test was used for statistical analysis (α = .05). RESULTS: The prevalence of CSP and/or CV in all brain CT was 0.93% (n = 177), which was lower. than that in the Chinese and British studies. Among them, 2.8% (n = 5) had only CSP, 1.7% (n = 3) had only CV, and 95.5% (n = 169) had coexistent CSP and CV. There is a significant difference in prevalence between the age groups (p = .009), and the prevalence is the highest in the group aged 20-29 years (1.56%) and lowest in the group aged above 80. After age 20-29, the prevalence tends to decrease with increasing age. CONCLUSION: This is not only the first study of CSP and CV in the Taiwanese population but the study population is also larger than those in the literature. The prevalence was found to approximately decrease as age progresses, but would reach the peak in the young adult group rather than the children or adolescent group.

Operative nuances of excision of colloid cysts in septum pellucidum: a report of three cases.

Colloid cysts are common cysts are often located in the anterior third ventricle and septum pellucidum location is extremely rare. Cysts in septum pellucidum can be missed at surgery because of their unusual location. We describe three patients with colloid cysts in the septum pellucidum, with two in the cavum septum pellucidum. Various surgical implications of this unusual location are enumerated.

Linking Type and Extent of Head Trauma to Cavum Septum Pellucidum in Older Adults With and Without Alzheimer Disease and Related Dementias.

BACKGROUND AND OBJECTIVES: Cavum septum pellucidum (CSP) is a common but nonspecific MRI finding in individuals with prior head trauma. The type and extent of head trauma related to CSP, CSP features specific to head trauma, and the impact of brain atrophy on CSP are unknown. We evaluated CSP cross-sectionally and longitudinally in healthy and clinically impaired older adults who underwent detailed lifetime head trauma characterization. METHODS: This is an observational cohort study of University of California, San Francisco Memory and Aging Center participants (healthy controls [HCs], those with Alzheimer disease or related dementias [ADRDs], subset with traumatic encephalopathy syndrome [TES]). We characterized traumatic brain injury (TBI) and repetitive head impacts (RHI) through contact/collision sports. Study groups were no RHI/TBI, prior TBI only, prior RHI only, and prior RHI + TBI. We additionally looked within TBI (1, 2, or 3+) and RHI (1-4, 5-10, and 11+ years). All underwent baseline MRI, and 67% completed a second MRI (median follow-up = 5.4 years). CSP measures included grade (0-4) and length (millimeters). Groups were compared on likelihood of CSP (logistic regression, odds ratios [ORs]) and whether CSP length discriminated groups (area under the curve [AUC]). RESULTS: Our sample included 266 participants (N = 160 HCs, N = 106 with ADRD or TES; age 66.8 ± 8.2 years, 45.3% female). Overall, 123 (49.8%) participants had no RHI/TBI, 52 (21.1%) had TBI only, 41 (16.6%) had RHI only, 31 (12.6%) had RHI + TBI, and 20 were classified as those with TES (7.5%). Compared with no RHI/TBI, RHI + TBI (OR 3.11 [1.23-7.88]) and TES (OR 11.6 [2.46-54.8]) had greater odds of CSP. Approximately 5-10 years (OR 2.96 [1.13-7.77]) and 11+ years of RHI (OR 3.14 [1.06-9.31]) had higher odds of CSP. CSP length modestly discriminated participants with 5-10 years (AUC 0.63 [0.51-0.75]) and 11+ years of prior RHI (AUC 0.69 [0.55-0.84]) from no RHI/TBI (cut point = 6 mm). Strongest effects were noted in analyses of American football participation. Longitudinally, CSP grade was unchanged in 165 (91.7%), and length was unchanged in 171 (95.5%) participants. DISCUSSION: Among older adults with and without neurodegenerative disease, risk of CSP is driven more by duration (years) of RHI, especially American football, than number of TBI. CSP length (≥6 mm) is relatively specific to individuals who have had substantial prior RHI. Neurodegenerative disease and progressive atrophy do not clearly influence development or worsening of CSP.

The relationship between large cavum septum pellucidum and antisocial behavior, callous-unemotional traits and psychopathy in adolescents.

BACKGROUND: The presence of a large cavum septum pellucidum (CSP) has been previously associated with antisocial behavior/psychopathic traits in an adult community sample. AIMS: The current study investigated the relationship between a large CSP and symptom severity in disruptive behavior disorders (DBD; conduct disorder and oppositional defiant disorder). METHOD: Structural MRI scans of youth with DBDs (N = 32) and healthy comparison youth (N = 27) were examined for the presence of a large CSP and if this was related to symptom severity. RESULTS: Replicating previous results, a large CSP was associated with DBD diagnosis, proactive aggression, and level of psychopathic traits in youth. However, the presence of a large CSP was unrelated to aggression or psychopathic traits within the DBD sample. CONCLUSIONS: Early brain mal-development may increase the risk of a DBD diagnosis, but does not mark a particularly severe form of DBD within patients receiving these diagnoses.

Partial trisomy 3p and partial monosomy 11q associated with double outlet right ventricle and septum pellucidum et vergae: a case report.

Su Partial trisomy 3p and partial monosomy 11q are rare chromosomal disorders with a deletion of part of chromosome 11 combined with a duplication of part of chromosome 3. These are usually inherited from a parent who carries a balanced translocation involving chromosome 3, which can result in the unbalanced translocation trisomy 3p in a child. In this paper, we report a newborn who has dysmorphic facial features, double outlet right ventricle, hypotonia, hypospadias, neonatal thrombocytopenia, hydroureteronephrosis, talipes equinovarus and septum pellucidum et vergae. Cytogenetic investigation revealed 46,XY,der(11)t(3;11)(p22.2;q23.3) and the karyotype of his father showed a balanced translocation, 46XY,t(3;11)(p22.2;p23.3).