Infantile Macrocephaly: Complicated Familial Benign Enlargement of Subarachnoid Space in Twins of Suspected Nonaccidental Injury.

A 3-month-old first of dizygotic male twins, born at 34 + 5 weeks gestational age, presented with a 4-week history of increasing head circumference and vomiting. He had a tense anterior fontanelle and a head circumference above the 97th percentile. Magnetic resonance imaging showed large bilateral subdural collection with hemosiderin deposits suggestive of hemorrhage. Nine days of bilateral subdural drainage reduced the collection size and blood load. On postoperative day 16, magnetic resonance imaging confirmed persistent but smaller subdural collections, unmasking the underlying subarachnoid space enlargement. On day 18, a right subdural-peritoneal valveless shunt was inserted as definitive treatment. As part of a nonaccidental injury investigation, Twin 2 was also found to have macrocephaly secondary to benign enlargement of subarachnoid space, which was managed conservatively. Benign enlargement of subarachnoid space has an assumed autosomal/multifactorial inheritance and predisposes to subdural hemorrhage. Ultimately, no safeguarding issues were raised. Both twins continued to be neurologically stable at 2-year follow-up with head circumferences between the 98th and 99th percentiles.

CSF-Venous Fistula.

PURPOSE OF REVIEW: To provide an update on recent developments in the understanding, diagnosis, and treatment of CSF-venous fistula (CVF). RECENT FINDING: CVF is a recently recognized cause of spontaneous intracranial hypotension (SIH), an important secondary headache, in which an aberrant connection is formed between the spinal subarachnoid space and an adjacent spinal epidural vein permitting unregulated loss of CSF into the circulatory system. CVFs often occur without a concurrent epidural fluid collection; therefore, CVF should be considered as a potential etiology for patients with SIH symptomatology but without an identifiable CSF leak. Imaging plays a critical role in the detection and localization of CVFs, with a number of imaging techniques and provocative maneuvers described in the literature to facilitate their localization for targeted and definitive treatment. Increasing awareness and improving the localization of CVFs can allow for improved outcomes in the SIH patient population. Future prospective studies are needed to determine the diagnostic performance of currently available imaging techniques as well as their ability to inform workup and guide treatment decisions.

Neuroangiostrongyliasis: The "Subarachnoid Phase" and Its Implications for Anthelminthic Therapy.

Infection with the Rat Lungworm Angiostrongylus cantonensis is the leading cause of human eosinophilic meningoencephalitis worldwide. From its origins in southeastern Asia, the parasite was spread extensively throughout the twentieth century and is now established in many of the world's warmer regions. Its clinical effects range from mild and transient symptoms, usually headache with peripheral nerve dysfunction, to severe and permanent central nervous system (CNS) damage, occasionally fatal. The severity and prognosis of disease are determined by the larval dose, acquired by ingesting infected intermediate hosts (slugs and snails) or, less often, paratenic hosts, such as crabs, shrimps, frogs, and monitor lizards. Early diagnosis is critical for treatment and depends on clinical suspicion, for laboratory confirmation from blood and cerebrospinal fluid can be delayed and unreliable. Treatment is fraught with difficulty, compounded by conflicting published results. Corticosteroids play a useful role in suppressing early CNS inflammation, but their duration for maintenance becomes problematic in severe infections. Because most of the pathogenesis results from host immuno-inflammatory responses to migrating and dead larvae in the CNS, anthelminthic therapy remains controversial: if effective, it kills viable larvae, arresting them in the CNS and so exacerbating the pathology. In human infections, it is now clear that many larvae do leave the CNS and reach the pulmonary arteries, sometimes with clinical consequences. Pioneering life-cycle studies in rats demonstrated a "subarachnoid phase" in larval development and migration; recent autopsy findings, outlined here, show it also occurs in humans and has some bearing on treatment. One new and four previously reported cases of human infection are analyzed here, with findings indicating that anthelminthic treatment is effective only when given early and should not be commenced beyond 3 weeks after exposure to infection. In endemic areas, treatment should start as soon as this infection is suspected, even without a clear history of exposure, given the unacceptable risks of waiting for diagnostic laboratory confirmation.

Choroidal fissure acts as an overflow device in cerebrospinal fluid drainage: morphological comparison between idiopathic and secondary normal-pressure hydrocephalus.

To clarify the pathogenesis of two different types of adult-onset normal-pressure hydrocephalus (NPH), we investigated cerebrospinal fluid distribution on the high-field three-dimensional MRI. The subarachnoid spaces in secondary NPH were smaller than those in the controls, whereas those in idiopathic NPH were of similar size to the controls. In idiopathic NPH, however, the basal cistern and Sylvian fissure were enlarged in concurrence with ventricular enlargement towards the z-direction, but the convexity subarachnoid space was severely diminished. In this article, we provide evidence that the key cause of the disproportionate cerebrospinal fluid distribution in idiopathic NPH is the compensatory direct CSF communication between the inferior horn of the lateral ventricles and the ambient cistern at the choroidal fissure. In contrast, all parts of the subarachnoid spaces were equally and severely decreased in secondary NPH. Blockage of CSF drainage from the subarachnoid spaces could cause the omnidirectional ventricular enlargement in secondary NPH.

Spontaneous resolution of cerebrospinal fluid otorrhoea in a patient with a Hyrtl's fissure.

OBJECTIVE: This paper reports a rare case of cerebrospinal fluid leak due to a Hyrtl's fissure and discusses the non-operative management of the case. Background and case report: Cerebrospinal fluid otorrhoea is a rare phenomenon arising from an abnormal communicating tract between the subarachnoid space and middle ear. Affected patients are at a higher risk of developing meningitis and other neuro-otological complications. There are four common congenital causes of cerebrospinal fluid otorrhoea in the region of a normal labyrinth. This paper describes a case of cerebrospinal fluid in the middle ear resulting from a Hyrtl's fissure, which resolved spontaneously. CONCLUSION: A literature search indicated this to be the first case with such a resolution without the need for any intervention.

Quistes aracnoideos: embriología y anatomía patológica / Arachnoid cysts: Embriology and pathology

Existe en la actualidad todavía mucha controversia en cuanto al origen de los quistes aracnoideos. En el caso de los quistes aracnoideos congénitos, la teoría más aceptada es aquella que explica cómo se forman a partir del desarrollo anómalo de la membrana aracnoidea, la cual se desdobla facilitando la acumulación de líquido cefalorraquídeo en su interior, dando lugar a un quiste. Esta teoría parece explicar el origen de los quistes aracnoideos de convexidad y silvianos, mientras que aquellos en otras localizaciones podrían ser debidos a otras causas. En el estudio anatomopatológico se aprecia que la pared de los quistes aracnoideos difiere poco de la membrana aracnoidea normal, pudiendo estar engrosada debido a un aumento de depósito de material colágeno. Exponemos el desarrollo embriológico normal de la aracnoides, las alteraciones que se producen en dicho desarrollo y que condicionan la formación de los quistes aracnoideos describiendo sus hallazgos anatomopatológicos más característicos

There is still great controversy surrounding the origin of the arachnoid cyst. The most accepted theory in the case of congenital cysts explains how they are formed from an anomalous development of the arachnoid membrane, which is unfolded allowing the accumulation of cerebrospinal fluid inside and creating a cyst. This theory seems to explain the origin of convexity and sylvian cistern arachnoid cysts, whereas those in other locations might be due to other mechanisms. In the anatomopathological analysis, the arachnoid cyst wall can be seen as having few differences from normal, although thickened due to an increase quantity of collagenous material

Sonographic findings in an isolated widened fetal subarachnoid space.

The purpose of this series was to describe sonographic features of an isolated widened fetal subarachnoid space with a thin cerebral mantle and possible associations. Between January 2004 and December 2013, fetuses with a prenatal diagnosis of a widened subarachnoid space were prospectively recruited and followed. Histories of medical and familial diseases, as well as other demographic data such as drug exposure and lifestyles, were assessed and prospectively recorded. The women were investigated for possible associated factors. Ten pregnant women were recruited. Their fetuses showed various degrees of a widened subarachnoid space, ranging from 5 to 20 mm. Nearly all were diagnosed in the second half of pregnancy. Four cases had normal brain structures documented at midpregnancy anomaly screening. Only 1 case had a prenatal diagnosis of a widened subarachnoid space at 20 weeks' gestation. Two fetuses had exposure to alcohol in utero; 2 were proven to have cytomegalovirus infection; 1 had subarachnoid hemorrhage secondary to maternal use of warfarin; and 1 had a diagnosis of lissencephaly. Only 1 case in this series had normal postnatal development. A prenatal series of fetal widened subarachnoid spaces with possible associated factors is described. Although such relationships were not fully proven, they should be index cases for future studies.

Dorsal spinal arachnoid web diagnosed with the quantitative measurement of cerebrospinal fluid flow on magnetic resonance imaging.

An arachnoid web is an abnormal formation of the arachnoid membrane in the spinal subarachnoid space that blocks CSF flow and causes syringomyelia. Although the precise mechanism of syrinx formation is unknown, dissection of the arachnoid web shrinks the syrinx and improves symptoms. Precisely determining the location of the arachnoid web is difficult preoperatively, however, because the fine structure generally cannot be visualized in usual MRI sequences. In this report the authors describe 2 cases of arachnoid web in which the web was preoperatively identified using quantitative CSF flow analysis of MRI. By analyzing cardiac-gated phase-contrast cine-mode MRI in multiple axial planes, the authors precisely localized the obstruction of CSF flow on the dorsal side of the spinal cord in both patients. This technique also revealed a 1-way valve-like function of the arachnoid webs. Imaging led to the early diagnosis of myelopathy related to the derangement of CSF flow and allowed the authors to successfully excise the webs through limited surgical exposure.

Prevalence of subdural collections in children with macrocrania.

BACKGROUND AND PURPOSE: The relationship between enlarged subarachnoid spaces and subdural collections is poorly understood and creates challenges for clinicians investigating the etiology of subdural collections. The purpose of this study was to determine the prevalence of subdural collections on cross sectional imaging in children with macrocephaly correlating with subarachnoid space enlargement. MATERIALS AND METHODS: The radiology information system of a large pediatric medical center was reviewed for "macrocrania" and "macrocephaly" on reports of cranial MRI/CT examinations in children <24 months of age, over a 24-month period. Head circumference was obtained from the clinical record. Studies were reviewed blindly for subdural collection presence and subarachnoid space size. Children with prior cranial surgery, parenchymal abnormalities, hydrocephalus, or conditions predisposing to parenchymal volume loss were excluded. Chart review was performed on those with subdural collections. RESULTS: Imaging from 177 children with enlarged head circumference was reviewed. Nine were excluded, for a final cohort of 168 subjects (108 with enlarged subarachnoid space). Subdural collections were identified in 6 (3.6%), all with enlarged subarachnoid space (6/108, 5.6%). In 4, subdural collections were small, homogeneous, and nonhemorrhagic. In 2, the collections were complex (septations or hemorrhage). Two children were reported as victims of child abuse (both with complex collections). No definitive etiology was established in the other cases. CONCLUSIONS: The prevalence of subdural collections in imaged children with macrocrania was 3.6%, all occurring in children with enlarged subarachnoid space. Our results suggest that enlarged subarachnoid space can be associated with some subdural collections in this cohort. Despite this, we believe that unexpected subdural collections in children should receive close clinical evaluation for underlying causes, including abusive head trauma.

Morning glory disc anomaly: characteristic MR imaging findings.

SUMMARY: Establishing the diagnosis of morning glory disc anomaly is crucial to appropriate patient treatment. Although typically made clinically, the diagnosis is not always straightforward, especially in circumstances where physical examination is limited. The goal of this study was to define the spectrum and frequency of orbital findings in a series of patients with funduscopically-confirmed morning glory disc anomaly by using MR imaging. MR imaging demonstrated 3 findings in all patients: 1) funnel-shaped morphologic pattern of the posterior optic disc with elevation of the adjacent retinal surface; 2) abnormal tissue associated with the distal intraorbital segment of the ipsilateral optic nerve, with effacement of the regional subarachnoid spaces; and 3) discontinuity of the uveoscleral coat. These findings were not observed in any of the unaffected globes of the study patients. In summary, these consistent and characteristic findings of morning glory disc anomaly should allow for accurate differentiation from other ocular anomalies and have the potential to guide appropriate management of this patient population.

Implantation of the common cavity malformation may prevent meningitis.

UNLABELLED: OBJECTIVES AND IMPORTANCE: Children with certain congenital malformations of the inner ear, including those with a common cavity defect, have a higher incidence of spontaneous cerebrospinal fluid (CSF) leak and resulting meningitis. However, they may also benefit from cochlear implantation. We suggest that surgical management may be possible that both prevents meningitis and provides hearing rehabilitation during the same procedure. CLINICAL PRESENTATION: A 2-year-old girl with bilateral common cavity defects who had previously undergone cochlear implantation developed contralateral CSF leak resulting in meningitis. INTERVENTION: After resolution of the infection, cochlear implantation was performed at the same time as definitive CSF leak repair. Simultaneous cochlear implantation and repair of the CSF leak successfully decreased the chance of recurrent meningitis in this case. She has been deriving hearing benefit from the bilateral implants. CONCLUSION: This case suggests a role for cochlear implantation to be combined with simultaneous CSF leak repair in children with a cochlear malformation. Furthermore, bilateral cochlear implantation at an early age may be warranted in these patients before CSF leaks and meningitis have occurred.

[Ocular coloboma and results of brain MRI: preliminary results]. / Colobome oculaire et résultats de l'IRM cérébrale : résultats préliminaires.

INTRODUCTION: Congenital ocular colobomas are the result of a failure in closure of the embryonal fissure. We present a prospective study (2007-2011) in which we report brain MRI findings in children with ocular coloboma. PATIENTS AND METHODS: Thirty-five children (54 eyes) were included; 15 boys, 20 girls with a median age of 24.0 months (1.0-96.0) at first presentation. Within 2 to 3 months following complete ophthalmologic examination, brain MRI was performed. RESULTS: Colobomas were bilateral in 19 cases and unilateral in 16 cases. Eleven different types of coloboma were identified. Of 54 eyes, 74% demonstrated optic nerve coloboma, of which 28 were severe. Of 35 MRI's performed, abnormalities were present in 86%: gyration abnormalities (n=21), lateral ventricular dilatation (n=17), dilatation of the Virchow-Robin and subarachnoid spaces (n=14), signal abnormalities and brain stem malformations (n=14), white matter signal abnormalities (n=11), corpus callosum abnormalities (n=10). Most of these abnormalities were related. Gyration abnormalities were the most frequent. There was no significant association between the severity of the coloboma and the abnormalities found (P=1.0). Likewise, there was no significant association of gyration abnormalities with the severity of coloboma in children (P=1.0). DISCUSSION AND CONCLUSION: This study shows, for the first time, the existence of frequent cerebral abnormalities on MRI in children with ocular coloboma. The most common abnormality being gyration abnormalities, in 60% of cases.

Benign familial macrocephaly in a mother-son pair.

Macrocephaly can be found isolated or associated with other anomalies as a part of specific syndrome. Benign Familial Macrocephaly (BFM) is a primary macrocephaly and autosomal dominant and multifactorial inheritances had been proposed. Cole and Hughes (5), described clinically seven patients. We report two BFM cases, a boy and his mother. The male propositus showed macrocephaly with dolicocephaly shape, frontal bossing, narrowing biparietal and a square-shaped face. Neurological examination was normal. He had two computed tomography (CT) scans of the skull, one at 7 months of age showing extracerebral fluid collection in the anterior convexity and increased interhemispheric subarachnoid space and a second normal CT scan at 3 years of age. The mother showed macrocephaly with dolycocephaly shape and dished-out mid-face. This family exhibited the full clinical spectrum of BFM, with an autosomal dominant inheritance.

Transethmoidal meningoencephalocele involving the olfactory bulb with enlarged foramina of the lamina cribrosa--case report.

A 3-year-old girl presented with a transethmoidal meningoencephalocele manifesting as recurrent rhinorrhea. Initially, she developed meningitis, but after treatment she experienced rhinorrhea. Two months later, she again presented with rhinorrhea. Neuroimaging studies revealed a small protrusion (15 mm x 10 mm) at the roof of the ethmoidal sinus. Nasal endoscopy confirmed the diagnosis of meningoencephalocele. The operative findings revealed a small hole in the left olfactory bulb, which had descended into an enlarged foramen along with the arachnoid membrane. The left olfactory bulb was removed, and the enlarged foramina of the lamina cribrosa were covered with a frontal pericranial flap. The defect in the bone was very small, but contributed to the development of meningitis and leakage of the cerebrospinal fluid. Basal cephalocele should be considered in a patient with recurrent rhinorrhea and intracranial infections, even in the absence of any apparent anomaly.

Developmental outcome of children with enlargement of the cisterna magna identified in utero.

An enlarged cisterna magna can be identified during routine ultrasound screening in the second half of pregnancy. It is important to be able to give an accurate prognosis. We evaluated the developmental outcome of these children. A total of 29 fetuses with a large cisterna magna identified in utero were compared to 35 children with a normal fetal ultrasound. The children were evaluated by the Gesell Developmental Schedules and the Peabody Developmental Motor Scale. The study group showed a significantly worse performance in the Gesell test. However, the overall performance for both groups was within normal limits. Four children in the study group had a borderline developmental quotient. Both groups performed similarly in the Peabody test. Walking age was significantly delayed in the study group. Children with an enlarged cisterna magna may be at risk for mild developmental delay. In cases of nonisolated enlargement of the cisterna magna, the outcome may be guarded.

Postnatal evaluation of schizencephaly by transfontanellar three-dimensional sonography.

Schizencephaly is a rare anomaly of neuronal migration characterized by the presence of brain clefts that communicate with the lateral ventricles. Type I is characterized by clefts with fused lips or margins, not communicating with the subarachnoid space. Type II is characterized by longer clefts that communicate with the subarachnoid space. Neonatal diagnosis of schizencephaly on transfontanellar two-dimensional (2D) sonography is rare, with only 1 report in the medical literature. The major limitation of 2D sonography is its inability to assess neonatal prognosis. There are no reports on MEDLINE about the use of transfontanellar three-dimensional (3D) sonography in the assessment of schizencephaly. We present a case of type II schizencephaly diagnosed on the 29th week of gestation with 2D sonography and describe the main findings with 3D sonography in surface and transparency modes performed in the neonatal period via the fontanel.

Dravet syndrome: a study of 53 patients.

OBJECTIVE: We analyzed the electroclinical features, treatment and evolution of patients with Dravet syndrome (DS). MATERIAL AND METHODS: We evaluated the clinical records of 53 patients that met the diagnostic criteria of DS according to the ILAE classification of 1989 seen at our center between February 1990 and December 2004. RESULTS: Thirty-four male and 19 female patients met the diagnostic criteria of DS. Mean time of follow-up was 10 years. The mean age at onset was 6 months and in all patients the seizures were associated with febrile illness. Myoclonias were found in 39 children. These seizures appeared between the ages of 1 and 5.5 years, with an average of 1 year and 5 months. The seizures were difficult to control with AEDs. All patients presented some degree of mental delay. At the age of 6 years, one of the children in our series presented kinesigenic paroxysmal dyskinesias. Twenty patients were placed on the ketogenic diet (KD). Two did not tolerate the KD and the diet was ineffective in five cases. The other 13 showed different degrees of control of seizures. CONCLUSION: The present study confirms the severity and intractability of the seizures and the difficulties to make an early diagnosis in DS. The onset of febrile seizures or seizures related to infectious disease or vaccination, focal or generalized, prolonged in time and during the first year of life, is especially suggestive of DS. The final diagnosis is usually made after 2 or 3 years when the electroclinical picture is complete, but earlier diagnosis is desirable. Myoclonias are the most representative type of non-febrile seizures in this syndrome but are not always present. Cognitive development is poor in all patients. Treatment with the KD should be considered early. A ion-channel disorder could explain the association between DS and paroxysmal diskinesias, as seen in one of our patients.

Surgical observation of the agenesis of the foramen of Magendie.

We report a young girl who presented with headache and back pain. Dynamic MRI revealed no cerebrospinal egress from the median aperture (Foramen of Magendie) of the fourth ventricle and syringomyelia. A posterior cranial fossa exploration was performed and agenesis of the median aperture was observed. Following surgical penetration of the posterior aspect of the fourth ventricle and at the most recent follow-up examination, this patient's syringomyelia had resolved, as had her symptoms. Agenesis of the foramen of Magendie may be a rare cause of inhibition of normal cerebrospinal egress from the fourth ventricle with resultant syringomyelia.