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A 3-year-old boy was admitted with psychomotor delay, spasticity, progressive visual loss, nystagmus, macrocephaly, and epileptic seizures for diagnostics. Cranial magnetic resonance imaging (MRI) revealed leukodystrophy and multicystic changes. Urine excretion of N-acetylaspartic acid was grossly increased, suggesting Canavan disease. Mutation screening of the ASPA gene confirmed this diagnosis. The underlying enzymatic defect causes accumulation of N-acetylaspartic acid and subsequent progressive myelin degeneration with characteristic spongy degeneration of the subcortical white matter, normally only seen histologically. We describe this case to show that spongy degeneration in Canavan disease may also be present macroscopically in the form of multiple beaded periventricular cysts on cranial MRI.

A four year old with a diagnosis of congenital infection leading to cerebral palsy is presented. The patient instead has a condition called Leukoencephalopathy with bilateral temporal lobe cysts which can be differentiated from congenital CMV by the clinical and MRI findings., (Copyright © 2014 Elsevier Inc. All rights reserved.)

Objective: To examine the effect of isolated prenatal choroid plexus cysts (CPCs) on child cognitive, behavioral, motor, and autonomic development at 18 months of age., Methods: A prospective design was implemented to identify CPC cases and controls in mid-pregnancy. Cases (n = 25) and controls (n = 45) participated in a follow-up visit when children were 18 months of age. Child mental and motor development was assessed using standard developmental assessments, socioemotional and behavioral functioning during testing was rated by examiners, and accelerometers provided measures of motor activity and energy expenditure. Cardiac patterns were collected using a three-lead electrocardiogram (ECG) and quantified as indicators of autonomic control of the heart, including vagal tone., Results: No significant differences were found in any outcome measure between children with prenatal CPC detection and those without., Conclusion: Findings should provide reassurance to practitioners and parents that isolated CPCs in fetuses with normal karyotypes do not affect child development after birth., (Copyright © 2011 John Wiley & Sons, Ltd.)

Diffusion-weighted imaging is becoming increasingly more important in neuroradiology. Formerly this technique was mainly used in stroke diagnostics but the spectrum of applications is becoming increasingly larger. Diffusion-weighted imaging is a useful tool for differentiation between metastases and abscesses, for assessment of the depth of invasiveness of tumors and to differentiate inflammation from astrocytomas. It has now become a standard technique in multiple sclerosis imaging. A further advantage in addition to the diagnostic capabilities is the speed of the sequence which makes it insensitive to movement artefacts.

Megalencephalic leukoencephalopathy with subcortical cysts is a rare leukodystrophy that is characterized by macrocephaly and a slowly progressive clinical course. It is one of the most commonly reported leukoencephalopathies in Turkey. Mutations in the MLC1 gene are the main cause of the disease. We report two patients with megalencephalic leukoencephalopathy with subcortical cysts with confirmed mutations in the MLC1 gene. The mutation in the second patient was novel. We also review identified mutations in the Turkish population.

We herein present a patient with intrasellar epidermoid cyst presenting as pituitary apoplexy, who was operated upon with a trans-sphenoidal approach. The clinical presentation, radiological and histological differential diagnosis and type of surgical intervention for intrasellar epidermoid cysts are discussed.

Neurologic and radiologic findings in children with well-defined developmental language impairment have rarely been systematically assessed. Children aged 7 to 13 years with developmental language impairment or normal language (controls) underwent language, nonverbal cognitive, motor and neurological assessments, standardized assessment for subtle neurological signs, and magnetic resonance imaging. Nine children with developmental language impairment and 12 controls participated. No focal abnormalities were identified on standard neurological examination. Age and developmental language impairment were independent predictors of neurological subtle signs scores (r(2) = 0.52). Imaging abnormalities were identified in two boys with developmental language impairment and no controls (P = .17). Lesions identified were predicted neither by history nor by neurological examination. Previously unsuspected lesions were identified in almost 25% of children with developmental language impairment. Constraints regarding cooperation and sedation requirements may limit the clinical application of imaging modalities in this population.

Colloid cyst of the third ventricle is a known primary brain tumor. The familial occurrence of this cyst and associated conditions has been rarely discussed in the literature. To our knowledge only 10 affected families have been previously reported in the literature. We report the 11th family with this potentially life-threatening tumor and discuss the associated conditions and, existing controversies and plan screening strategies.

Sturge-Weber syndrome is one of the neurocutaneous syndromes. It is a rare, nonfamiliar disease that is characterized by facial port-wine stain, leptomeningeal angiomatosis, choroidal angioma, buphthalmos, intracranial calcification, cerebral atrophy, mental retardation, glaucoma, seizures and hemiparesis. CT and MR are complementary in the evaluation of this disease. Epilepsy is an essential feature of Sturge-Weber syndrome and it has a major significance for prognosis and treatment. We report a 2-year-old boy with Sturge-Weber syndrome who had in addition an intracranial lipoma, a temporal arachnoid cyst and a porencephalic cyst. This combination of intracranial lesions with Sturge-Weber syndrome has not been previously reported.

Introduction: Although radiation therapy plays an important role in the management of children with brain tumors, radiation-induced brain damage sometimes occurs after radiation therapy. In some pediatric patients who had undergone cranial radiation therapy, we noticed cystic changes in the brain on follow-up MRI. The purpose of this study was to determine the frequency, latency, relationship with patient age, radiation dose, and serial change in the cystic changes in children after cranial irradiation., Methods: We retrospectively studied MRI in 33 children who had undergone cranial irradiation for their primary brain tumors. Postirradiation cystic change in the brain on follow-up MRI was defined as a well-demarcated, oval-shaped, CSF-like signal intensity area, and no contrast enhancement., Results: Of the 33 patients, 6 (18.2%) had one or more cystic lesions. The latency of the cystic changes ranged from 1.5 to 7 years (mean 2.6 years). Cystic changes were found in the subcortical, periventricular and other deep white matter and the basal ganglia. The size of the lesions ranged from 1 to 10 mm at their first appearance; eight cystic lesions increased in size. None the cystic lesions reduced in size or resolved with time and none required intervention. All patients with cystic changes had received irradiation when they were 6 years of age or younger. The cystic changes occurred within the radiation field in patients treated with a radiation dose of 36 Gy or more., Conclusion: Asymptomatic brain parenchymal cystic changes appear to occur in children who have undergone cranial irradiation at 6 years of age or younger.

Background: The differential diagnosis of various intracranial cystic lesions is sometimes difficult on the basis of CT or MRI findings. Our objective was to evaluate (1)H MRS and DWI in the differential diagnosis of these lesions and in comparison with conventional MRI., Methods: Fifty patients with intracranial cystic lesions (21 pyogenic abscesses, 23 tumor cysts, 3 epidermoid cysts, and 3 arachnoid cysts) were evaluated with conventional MRI, DWI, and in vivo (1)H MRS. Preoperative diagnosis of the lesions was based on the results of DWI and in vivo MRS. All DWI and (1)H MRS studies were performed with a clinical 1.5-T system. The DWI was performed using single-shot spin-echo echo-planar pulse sequence with b = 1000 s/mm(2). The ADC value was measured. Diagnostic accuracy of conventional MRI, DWI, and in vivo (1)H MRS was calculated with respect to a final diagnosis of brain abscess vs nonabscess cystic tumor., Results: Lactate and cytosolic amino acids with/without succinate, acetate, and alanine were observed in 18 of 21 cases of abscesses on MRS. In 3 cases of epidermoid cysts, lactate was observed and could be differentiated from 3 cases of arachnoid cysts, which showed only minimal lactate. Only lactate was seen in 14 of 23 patients with tumor cysts, whereas both lipid/lactate and choline were visible in 9 patients with tumor cysts. Increased signal was seen in 20 of 21 patients with abscesses and 3 patients with epidermoid cysts on DWI. Decreased signal was observed in 22 of 23 patients with tumor cysts and 3 patients with arachnoid cyst on DWI. Diagnostic accuracy, sensitivity, specificity, positive predictive value, and negative predictive value of conventional MRI for the differentiation of brain abscess from nonabscess cystic tumor were 61.4%, 61.9%, 60.9%, 59.1%, and 63.6%, respectively, whereas they were 93.2%, 85.7%, 100%, 100%, and 88.5% with MRS; 95.5%, 95.2%, 95.7%, 95.2%, and 95.7% with DWI; and 97.7%, 95.2%, 100%, 100%, and 95.8% with MRS and DWI. Magnetic resonance imaging, when combined with in vivo MRS and DWI, accurately predicted the diagnosis in 47 (94%) of 50 and 48 (96%) of 50 of the cases, respectively., Conclusions: Proton MRS and DWI are useful as additional diagnostic modalities in differentiating intracranial cystic lesions. Combination of DWI with calculated ADC values and metabolite spectrum acquired by MRS add more information to MRI in the differentiation of intracranial cystic mass lesions.

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive cerebral white matter disorder in children. This disease is histopathologically characterized by myelin splitting and intramyelinic vacuole formation. MLC is caused by mutations in the gene MLC1, which encodes a novel protein, MLC1. Since the first report, 50 mutations in this gene have been found. Mutations occur throughout the entire coding region and include all different types: 11 splice-site mutations; one nonsense mutation; 24 missense mutations; and 14 deletions and insertions. Until now, six polymorphisms within the coding sequence of MLC1 had been reported. In about 20% of the patients with a typical clinical and MRI picture, no mutations in the MLC1 gene are found. Several of the families, in which no mutations are found, also do not show linkage with the MLC1 locus, which suggests a second gene involved in MLC. The absence of mutations may also be the consequence of performing standard mutation analysis that can miss heterozygous deletions, mutations in the promoter, 3' and 5' untranslated regions (UTRs), and intron mutations, which may influence the amino acid composition of the end product. In this work we describe 13 novel mutations, including those found with extended mutation analysis on MLC patients. This study shows that extended mutation analysis is a valuable tool to identify at least some of the missing mutations. Therefore, we suggest extended mutation analysis for the MLC1 gene, if no mutations are found during standard analysis., (Copyright 2006 Wiley-Liss, Inc.)

Axial cerebral cysts of various location and origin are relatively rare lesions. Endoscopic neurosurgery has made them amenable for safe intervention even in vital brain regions. Neuroendoscopic treatment was used by the author in 35 patients during the last 7 years without permanent morbidity or mortality. The aim of the surgery was to fenestrate the cyst or to perform cyst exstirpation to relieve the pressure effect on the surrounding functioning neural tissue and to reestablish the patency of cerebrospinal fluid pathways, as well as histological verification of the cyst origin. Contemporary imaging modalities are capable of diagnostic evaluation, but the detailed anatomical relationship to the surrounding structures can be visually analysed completely together with understanding of their functional effects only during endoscopic surgeries, supported by the results of imaging. Therefore the precision of endoscopic surgeries was substantially enhanced and during the surgery a large amount of knowledge enriching the contemporary information about the cerebrospinal fluid flow through the cerebral ventricular system and blood circulation in the deep cerebral venous system and the relationship of these veins to hydrocephalus was obtained (Tab. 1, Fig. 9, Ref. 11).

Objective: The purpose of this study was to evaluate cognitive, motor, language and adaptive behavior development in children who had isolated choroid plexus cysts (CPC) detected prenatally., Methods: A retrospective double cohort design and standardized psychometric measures were used to compare the development of children who had isolated CPCs identified prenatally with a control group of children who had normal prenatal ultrasounds., Results: Our study cohort (n = 37) had a mean age of 3.88 years (SD = 0.83) and the control cohort (n = 48) had a mean age of 4.62 years (SD = 1.03). The age difference between our cohorts was significant. There were no differences between cohorts in socioeconomic status, sex, birth weight or gestational age. Cognitive data showed no clinically significant difference in Full Scale IQ using the WISC-III or WPPSI-R (CPC = 113.97, control = 116.69). Scores on standardized measures of motor and adaptive functioning also did not show any significant group differences. Children with CPCs did score significantly lower than controls on some of the measures of verbal functioning; however, this difference was not associated with clinically significant delays., Conclusion: We conclude that the presence of isolated CPCs on midtrimester ultrasound are unlikely to be associated with any significant neurocognitive delays in early childhood.

We describe three cases of the rare syndrome of leukoencephalopathy, brain calcifications, and cysts. Conventional MRI, proton spectroscopy, and diffusion-weighted imaging yielded additional information on the disease. Imaging findings favor increased water content rather than a demyelinating process in the pathophysiology of this disease. Clinical features of Coats disease and consanguinity were also encountered.

The use of endoscopic fenestration (EF) is becoming an increasingly common treatment for symptomatic intracranial cysts. Very little data exist regarding outcomes for this procedure in children 1 year of age or younger. We retrospectively reviewed the clinical outcomes of 8 children 1 year of age or less treated at our institution with endoscopic cyst fenestration. The mean follow-up was roughly 2.5 years. These data were combined with 17 other cases obtained from the published literature. EF was successful in rendering patients shunt-free or minimizing the number of ventricular catheters in 18 of 26 operations. There were 8 outright failures -- two in 1 patient. Given the risks and complications of cerebrospinal fluid shunting in children less than 1 year of age, we advocate the consideration of EF as initial treatment of symptomatic intracranial cysts.

This paper is concerned with the detection of multiple small brain lesions from magnetic resonance imaging (MRI) data. A model based on the marked point process framework is designed to detect Virchow-Robin spaces (VRSs). These tubular shaped spaces are due to retraction of the brain parenchyma from its supplying arteries. VRS are described by simple geometrical objects that are introduced as small tubular structures. Their radiometric properties are embedded in a data term. A prior model includes interactions describing the clustering property of VRS. A Reversible Jump Markov Chain Monte Carlo algorithm (RJMCMC) optimizes the proposed model, obtained by multiplying the prior and the data model. Example results are shown on T1-weighted MRI datasets of elderly subjects.

Objective and Importance: Brain magnetic resonance imaging scans occasionally reveal asymmetrical ventricles with no identifiable cause. A case is presented that highlights a possible connection between transient choroid plexus cysts and benign asymmetrical ventricles., Clinical Presentation: The patient was a 2.5-week-old asymptomatic boy. Transcranial ultrasound and magnetic resonance imaging revealed the infant to have a left frontal horn choroid plexus cyst and a mildly dilated left lateral ventricle. Head circumference was at 90% of the norm for age. The neurological examination revealed nothing abnormal. Four months later, follow-up magnetic resonance imaging revealed complete resolution of the cyst with persistent ventricular asymmetry., Intervention: No surgical intervention was undertaken. The lesion was assessed via x-ray., Conclusion: Spontaneously resolving choroid plexus cysts of infancy causing outflow obstruction of the lateral ventricle may be one of the underlying causes of benign asymmetrical ventricles.

Disorders of the choroid plexus, a central nervous system structure, are rare, but can pose diagnostic difficulties. The purpose of this review is to illustrate the computed tomography and magnetic resonance imaging findings of a wide spectrum of lesions that affect the choroid plexus. The areas covered include (1) neoplasms (papilloma, leukaemia, meningioma, lymphoma and metastases); (2) infections (bacterial, fungal and viral); (3) cysts; (4) haemorrhage; (5) congenital abnormalities (Sturge-Weber syndrome, Klippel-Trenaunay-Weber syndrome and vascular malformations); and (6) non-infectious inflammatory disorders (xanthogranulomas, inflammatory pseudotumour, neurosarcoidosis, rheumatoid nodule and villous hypertrophy). Few of the patterns of choroid plexus involvement are specific for a particular pathological process. Guermazi, A. (2000) Clinical Radiology 55, 503-516., (Copyright 2000 The Royal College of Radiologists.)