Anterior encephalocele associated with subependymal nodular heterotopia, cortical dysplasia and epilepsy: case report and review of the literature.

The presence of subependymal nodular heterotopia and cortical dysgenesis has been infrequently reported in patients with encephalocele. The majority of these patients were found to have posterior encephaloceles. We report a case of a Hispanic female with a frontoethmoidal encephalocele who developed epilepsy at 15 years of age. Magnetic resonance imaging of the brain demonstrated left subependymal nodular heterotopia, partial agenesis of the corpus callosum and left fronto-temporal cortical dysplasia with polymicrogyria. This case illustrates the association of anterior encephalocele with subependymal nodular heterotopia, cortical dysplasia and epilepsy. It underscores the importance of screening for intracranial abnormalities in patients with anterior encephalocele.

Magnetic resonance of metabolic and degenerative diseases in children.

Cerebral magnetic resonance imaging and spectroscopy form an integral part in the diagnosis and management of the vast spectrum of metabolic and degenerative disorders in children. These varied disorders have been classified in many different ways, according to anatomic location, head size, enzyme disorder, or cellular morphology and function. The clinical features and magnetic resonance imaging appearances of the most common disorders are discussed.

Infantile leukoencephalopathy owing to mitochondrial enzyme dysfunction.

Mitochondrial disease is classically associated with deep gray-matter lesions. When white matter is involved, the lesions are typically subcortical and overshadowed by more significant disease in the gray matter. We report six infants in five families who developed neurodegenerative diseases characterized primarily by abnormalities in deep white-matter structures such as the periventricular region, internal capsule, and corpus callosum. Five patients had impairments of mitochondrial enzymes, including a pre-electron transport chain defect and defects in respiratory chain complexes I, III, and IV (cytochrome-c oxidase). One patient, the sibling of one of the others, was diagnosed clinically with complex III deficiency. These six patients, along with others in the literature, appear to represent a distinct syndrome of mitochondrial infantile leukoencephalopathy. Our observations suggest that infants with leukoencephalopathies, especially leukodystrophies, who do not have one of the more common causes of white-matter disease should be evaluated for mitochondrial dysfunction.

Ataxia, ophthalmoplegia, and impairment of consciousness in a 19-month-old American boy.

A 19-month-old, white, Pennsylvanian boy, with an unremarkable medical history, presented to our hospital with a 3-week history of nonbloody, nonbilious emesis up to 5 times a day and nonbloody diarrhea. Ten days before admission, his gait became progressively unsteady, until he finally refused to walk. A day before admission, he found it difficult to move his eyes. The patient was hypoactive. History, physical and neurologic examination, blood and cerebrospinal (CSF) fluid studies, and neuroimaging studies ruled out the most frequent causes of acute ataxia. The etiology of bilateral, complete ophthalmoplegia was also taken into consideration. Magnetic resonance imaging (MRI) findings of bilateral thalami and mammillary bodies provided diagnostic clues. Additional history and specific tests established the final diagnosis and treatment plan. The patient improved to a normal neurologic state. This case provides important practical information about an unusual malnutrition cause of acute ataxia, particularly in young children of developing countries.

Cerebellar gliomatosis in a toddler: case report of a challenging condition and review of the literature.

Gliomatosis confined to the cerebellum is most unusual. We report such a case in a 20-month-old male who presented with unsteadiness. Magnetic resonance imaging revealed a diffuse area of abnormal signal intensity within both cerebellar hemispheres, which did not enhance after contrast administration. The patient underwent a biopsy, which revealed a diffuse glioma infiltrating the cerebellum. Overall, the tumor cells had oligodendroglioma-like features and exhibited only focal vimentin immunoreactivity. They were negative for glial fibrillary acidic protein, synaptophysin, ßIII-tubulin, and neurofilament protein. Immunofluorescence, performed on primary biopsy explants maintained in cell culture without exposure to growth factors or differentiation-promoting agents, revealed widespread nestin immunoreactivity and immunolabeling of occasional cells with antibodies to platelet-derived growth factor-α and O1/O4, markers of oligodendrocyte precursor-cells and immature oligodendrocytes, respectively. Fluorescent in situ hybridization performed on explants, touch preparations, and paraffin sections failed to reveal loss of heterozygosity for either 1p36 or 19q13. The patient was treated with temozolomide and remains stable, albeit with residual quiescent tumor, more than 3 years after surgery. This report calls attention to an unusual presentation of gliomatosis confined to the cerebellum of a toddler and addresses salient aspects of clinical and radiological differential diagnosis, as well as therapeutic challenges encountered.

Imaging tumors of the pediatric central nervous system.

Primary tumors of the central nervous system (CNS) are the second most common neoplasms in children and the leading cause of death in this patient population. The primary objective of this article is to describe the most common pediatric brain tumors and to offer an overview of their respective imaging features, primarily on magnetic resonance imaging. Precise anatomic characterization is essential for developing an appropriate differential diagnosis. Once equipped with this critical information, physicians should be better able to make firm diagnoses, leading to improved disease management and patient outcomes in the setting of CNS tumors of childhood.

The galactocele of male infants: an intriguing entity. Study and reflection about a case, with review of the literature.

In this report, the authors investigate and discuss a galactocele that developed in the breast of a 5-month-old male. Based on the histological and immunohistochemical findings, they suggest that the rare and intriguing process that is exclusively observed in males in the absence of any detectable hormonal stimulation at time of investigation could represent a developmental anomaly possibly promoted by an obstructive phenomenon involving a defect of hollowing of some primary epidermal buds, the precursors of the mammary ducts.

An adolescent with a mediastinal mass, diagnosed with Graves disease and thymic hyperplasia.

Graves disease is an autoimmune disorder characterized by thyroid enlargement and hyperthyroidism. Thyrotropin receptor (TSHR) autoantibodies bind the TSHR on the membrane of thyroid follicular cells and stimulate cell proliferation and thyroid-hormone synthesis. TSHR has also been identified in extrathyroidal organs, including the human thymus. Thus far, radiologically detectable thymic enlargement has only been reported in adults with Graves disease. We present here the case of a child with Graves disease and significant thymic hyperplasia. L. K. was a 15-year-old girl evaluated for cough and dyspnea on exertion. A chest radiograph was obtained, and it revealed a widened superior mediastinum. A computed-tomography scan of her chest identified a mass in the anterior mediastinum without associated lymphadenopathy. Because of these radiologic findings and her weight loss, she was referred to the oncology service; a biopsy of the mediastinal mass was obtained and revealed thymic reactive hyperplasia. Because of persistent tachycardia, thyroid studies were obtained, and the diagnosis of Graves disease was established. The child's physical examination revealed a minimally enlarged thyroid gland and no exophthalmos. One month after medical treatment was initiated, a repeat computed-tomography scan of her chest identified significantly reduced thymic size. To our knowledge, this is the first pediatric patient reported with Graves disease and significant thymic enlargement. Considering the diagnosis of Graves disease for a child with an anterior mediastinal mass and without the typical physical findings of autoimmune hyperthyroidism (goiter, exophthalmos) may prevent unnecessary diagnostic studies and their associated financial and emotional costs.

Terminal ileal atresia, total colonic aganglionosis, and thrombophilia.

Inherited thrombophilia, a predisposition for a hypercoagulable state, has been associated with cases of intestinal atresia. In this communication, we report a case of terminal ileal atresia and total colonic aganglionosis (Hirschsprung's disease), a rarely documented association, in a neonate who seemed to have a hypercoagulable state. The case stresses the need for recognition of this sequence of events in order to achieve optimal management.

Glioneuronal phenotype in a diencephalic pilomyxoid astrocytoma.

We report the presence of divergent populations of cells in a hypothalamic/chiasmatic pilomyxoid astrocytoma of an 11-month-old male, exhibiting differential immunohistochemical localizations for glial fibrillary acidic protein (GFAP) and synaptophysin. The tumor cells were negative for Neu-N and neurofilament protein. Ultrastructurally, the tumor comprised 2 cell types, one with features attributable to a neuronal phenotype alongside cells exhibiting an overt astroglial phenotype. This composite organization was confirmed by confocal microscopy, which revealed 2 distinct, albeit tightly interwoven, populations of GFAP and synaptophysin-labeled tumor cells. Our results indicate that a subset of the so-called pilomyxoid astrocytomas of the hypothalamic/chiasmatic region may represent phenotypically mixed glioneuronal neoplasms distinct from the pilocytic astrocytomas.

Acute disseminated encephalomyelitis in children: discordant neurologic and neuroimaging abnormalities and response to plasmapheresis.

OBJECTIVES: To describe our experience with acute disseminated encephalomyelitis (ADEM), focusing on (1) the relationship between clinical course and MRI findings and (2) the response to plasmapheresis in a subgroup of patients. METHODS: A retrospective record review was conducted of 13 children who were admitted as inpatients with the diagnosis of ADEM during the period 1998-2003. RESULTS: Diagnosis was established by clinical signs and symptoms, cerebrospinal fluid changes and multifocal involvement of deep gray and white matter based on MRI. Initial therapy was high-dose methylprednisolone and intravenous immunoglobulin in 12 patients. One child improved spontaneously. Six of 12 children did not improve with corticosteroid treatment. All 6 had an acute progressive course neurologically, and 5 of them also showed a delay in the onset of neuroimaging changes, eventually developing lesions in the deep gray matter and brainstem. This latter group received 5 sessions of plasmapheresis and recovered over the course of several months with varying degrees of residual neurologic deficits. CONCLUSIONS: Presentation of ADEM with delayed development of MRI lesions in deep gray matter and brainstem may herald a prolonged clinical course and lack of response to glucocorticoid therapy. Plasmapheresis might be an effective therapeutic intervention in these patients. The role of plasmapheresis versus corticosteroids and intravenous immunoglobulin as a primary treatment of ADEM needs to be investigated further.