MR imaging of neonatal spinal dysraphia: what to consider?

The development of the spinal canal and its contents is highly complex and involves multiple programmed anatomic and functional developmental and maturational processes. Correct and detailed knowledge about spinal malformations is essential to understand and recognize these lesions early (preferably prenatally) to counsel parents during pregnancy, to plan possible intrauterine treatments, and to make decisions about the mode of delivery and the immediate postnatal treatment. This article discusses the imaging findings of the most frequently encountered neonatal spinal malformations and correlates these findings with the relevant embryologic processes.

Hypomyelination and congenital cataract: neuroimaging features of a novel inherited white matter disorder.

Background And Purpose: Hypomyelination and congenital cataract (HCC) is an autosomal recessive white matter disease caused by deficiency of hyccin, a membrane protein implicated in both central and peripheral myelination. We aimed to describe the neuroimaging features of this novel entity.

Materials And Methods: A systematic analysis of patients with unclassified leukoencephalopathies admitted to our institutions revealed 10 children with congenital cataract, slowly progressive neurologic impairment, and diffuse white matter abnormalities on neuroimaging.

Phenotypic characterization of hypomyelination and congenital cataract.

Objective: To define the clinical and laboratory findings in a novel autosomal recessive white matter disorder called hypomyelination and congenital cataract, recently found to be caused by a deficiency of a membrane protein, hyccin, encoded by the DRCTNNB1A gene located on chromosome 7p21.3-p15.3.

Laryngeal schwannoma in an 8-year-old boy with inspiratory dyspnea.

Background: Schwannomas of the larynx are rare lesions in the pediatric age group.

Methods: In this article, we report on the neuroimaging features of a schwannoma arising from the left aryepiglottic fold in an 8-year-old boy with a 6-month history of inspiratory dyspnea.

Results: Neuroimaging showed a well-defined, avoid mass originating from the left aryepiglottic fold.

Tumors of the spine in children.

In children, tumors of the spine are much rarer than intracranial tumors. They are classified into intramedullary, intradural-extramedullary, and extradural tumors. Magnetic resonance imaging provides crucial information regarding the extent, location, and internal structure of the mass, thus critically narrowing the differential diagnosis and guiding surgery.

Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.

We describe a new autosomal recessive white matter disorder ('hypomyelination and congenital cataract') characterized by hypomyelination of the central and peripheral nervous system, progressive neurological impairment and congenital cataract. We identified mutations in five affected families, resulting in a deficiency of hyccin, a newly identified 521-amino acid membrane protein. Our study highlights the essential role of hyccin in central and peripheral myelination.

Neuroimaging of pediatric craniopharyngiomas: a pictorial essay.

Craniopharyngiomas are benign, partly cystic epithelial tumors that account for 5-13% of all intracranial tumors and 50% of all suprasellar masses in children. They pose several challenges to the neuroradiologist. This paper aims to focus on the main issues regarding the neuroradiological diagnosis and follow-up after treatment.

Bilateral germinoma of the basal ganglia.

Germinoma arising in the bilateral basal ganglia is exceedingly rare, with only five cases reported to date. Owing to non-specific clinical findings and the frequent presence of ill-defined abnormalities without a definite tumor mass on neuroimaging, the diagnosis can be difficult. We describe a case in which magnetic resonance spectroscopy (MRS) findings suggested a tumor and supported the decision to perform biopsy of the lesion.

Hypothalamic-pituitary magnetic resonance imaging in growth hormone deficiency.

The accurate analysis of the hypothalamic-pituitary area is essential in the diagnosis of endocrine-related diseases. High-quality magnetic resonance imaging represents the examination modality of choice in the evaluation of hypothalamic-pituitary morphology. Indeed, the advent of molecular biology and neuroimaging techniques has led to significant progress in the understanding of the pathogenesis of disorders affecting the pituitary gland, specifically by demonstrating a clear phenotype-genotype relationship.

Spectrum of nonterminal myelocystoceles.

Objective: To present the magnetic resonance imaging features, clinical findings, and possible embryologic bases for nonterminal myelocystoceles, a distinct subset of closed spinal dysraphisms.

Methods: We retrospectively analyzed imaging series and clinical records from five newborns and one older child with skin-covered soft tissue masses along the posterior midline spine. Spinal (6 patients) and brain (5 patients) magnetic resonance imaging was performed before surgical repair and compared with clinical findings, observations at surgery, and final lesion histology.

Prenatal MR imaging of dural sinus malformation: a case report.

Objective: To describe prenatal magnetic resonance imaging (MRI) findings of dural sinus malformation (DSM), a very rare, congenital form of dural arteriovenous shunt (DAVS), typically affecting newborns.

Methods: Ultrasound (US) and MRI were performed at 34 weeks' gestation, and the findings of these examinations were compared with postnatal MRI studies performed at 2 days and 1 month.

Results: US showed an anechoic, midline posterior fossa collection with irregular internal echodensities.

Different molecular mechanisms leading to white matter hypomyelination in infantile onset lysosomal disorders.

Hypomyelinating leukoencephalopathies may be related to a primary disturbance in the formation of myelin or may be caused by neuronal, oligodendrocytic or astrocytic dysfunction, leading to a failure of myelination. Abnormal myelination related to a direct metabolic damage on oligodendrocytes has been shown to occur in some animal models of lysosomal storage diseases. To demonstrate that cerebral white matter hypomyelination may occur also in humans affected by early-onset lysosomal storage diseases, we report three cases with infantile-onset lysosomal storage disorders (type 1 GM1 gangliosidosis, globoid cell leukodystrophy or Krabbe's disease, and type A Niemann-Pick disease) showing white matter hypomyelination.

Epidural compression in neuroblastoma: Diagnostic and therapeutic aspects.

The involvement by tumour of intervertebral foramina and the consequent invasion of the spinal space, accompanied or not by neurological symptoms, represent a well-recognised pattern of presentation of neuroblastoma. The main peculiarity of this condition stands in the fact that, in case of its late detection or inadequate treatment, severe, permanent neurological compromise may ensue. Surprisingly enough, remarkable disagreements still exist regarding its optimal treatment and the related literature provide contrasting indications at this respect.

Comparison of gadobenate dimeglumine (Gd-BOPTA) with gadopentetate dimeglumine (Gd-DTPA) for enhanced MR imaging of brain and spine tumours in children.

Background: Gadobenate dimeglumine (Gd-BOPTA) demonstrates superior enhancement of brain tumours in adult patients than Gd-DTPA.

Objective: To determine whether Gd-BOPTA has advantages over Gd-DTPA for enhanced MR imaging of paediatric brain and spine tumours.

Materials And Methods: Sixty-three subjects, aged 6 months to 16 years, who were enrolled in a prospective, fully blinded, randomized parallel-group phase III clinical trial, received 0.

Genetic disorders affecting white matter in the pediatric age.

Pediatric white matter disorders can be distinguished into well-defined leukoencephalopathies, and undefined leukoencephalopathies. The first category may be subdivided into: (a) hypomyelinating disorders; (b) dysmyelinating disorders; (c) leukodystrophies; (d) disorders related to cystic degeneration of myelin; and (e) disorders secondary to axonal damage. The second category, representing up to 50% of leukoencephalopathies in childhood, requires a multidisciplinar approach in order to define novel homogeneous subgroups of patients, possibly representing "new genetic disorders" (such as megalencephalic leukoencepahlopathy with subcortical cysts and vanishing white matter disease that have recently been identified).

MR imaging of brain-stem hypoplasia in horizontal gaze palsy with progressive scoliosis.

We present the MR imaging findings of a girl with horizontal gaze palsy and progressive scoliosis (HGPPS). HGPPS is a rare congenital disorder characterized by absence of conjugate horizontal eye movements and accompanied by progressive scoliosis developing in childhood and adolescence. MR imaging depicted brain-stem hypoplasia with absence of the facial colliculi, presence of a deep midline pontine cleft (split pons sign), and a butterfly configuration of the medulla.

Imaging in spine and spinal cord malformations.

Spinal and spinal cord malformations are collectively named spinal dysraphisms. They arise from defects occurring in the early embryological stages of gastrulation (weeks 2-3), primary neurulation (weeks 3-4), and secondary neurulation (weeks 5-6). Spinal dysraphisms are categorized into open spinal dysraphisms (OSDs), in which there is exposure of abnormal nervous tissues through a skin defect, and closed spinal dysraphisms (CSD), in which there is a continuous skin coverage to the underlying malformation.

Spinal dysraphism: MR imaging rationale.

Spinal cord development occurs through the three consecutive periods of gastrulation (weeks 2-3), primary neurulation (weeks 3-4), and secondary neurulation (weeks 5-6). Spinal cord malformations derive from defects in these early embryonic stages, and are collectively called spinal dysraphisms. Spinal dysraphisms may be categorized clinically into open and closed, based on whether the abnormal nervous tissue is exposed to the environment or covered by skin.

Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings.

Mutations in the nuclear SURF1 gene are specifically associated with cytochrome c oxidase (COX)-deficient Leigh syndrome. MR imaging abnormalities in three children with this condition involved the subthalamic nuclei, medulla, inferior cerebellar peduncles, and substantia nigra in all cases. The dentate nuclei and central tegmental tracts were involved in two cases each (all instances), and the putamina, interpeduncular nucleus, and pallido-cortical-nigro-cortical tracts in one.