There is a strong association between sleep-related problems and neurologic diseases. Neurologic diseases of the CNS can directly cause sleep problems when sleep-wake mechanisms associated with the ...ascending reticular activating system are involved. The major sleep disorders associated with neurologic problems are outlined in the International Classification of Sleep Disorders , 2nd edition , as hypersomnias of central origin, sleep-related breathing disorders, the insomnias, circadian rhythm sleep disorders, sleep-related movement disorders, parasomnias, and sleep-related epilepsy. In a patient with CNS disease and excessive sleepiness, sleep-related breathing disorders should be a first concern, given the known association between obstructive sleep apnea (OSA) and cerebrovascular disease and the potential confounding effects that OSA might have on an otherwise compromised ischemic CNS penumbra. A basic knowledge of the anatomy and physiology of the sleep-wake mechanisms provides a rationale for pharmacologic intervention. Nonpharmacologic treatments are also important, especially when sleep-related breathing disorders are a concern. In addition, as patients with neurologic diseases are often prone to the adverse effects of many medications, the specific treatment regimen for any given individual should always include good sleep hygiene practices that use cognitive behavioral therapy.
Whereas adult-onset Huntington disease is a well-characterized clinical entity, childhood-onset cases have not received as much attention. In this report, the clinical, demographic, and genetic ...characteristics in 12 patients with childhood-onset Huntington disease are presented and compared with data in the literature. The patients were divided into two groups based on age at onset of symptoms (< 10 or ≥ 10 years old). The majority of patients had onset of symptoms before 10 years of age and most at or below 5 years of age. The delay in diagnosis was longer in those with earlier onset of symptoms. Inheritance was paternal in all patients with onset beyond 10 years of age. We found a preponderance of male patients in the younger age at onset group and of female patients in the older age at onset group. The most frequent heralding symptom was cognitive decline in the group with earlier onset and oropharyngeal dysfunction in the later-onset group. Seizures occurred only in the younger age at onset group. Chorea was not a presenting sign but developed later in the course of the disease and, with dystonia, was more prevalent in the early age at onset group, whereas rigidity and bradykinesia were more prevalent in the older age at onset group. Patients in both groups developed gait, cognitive, and behavioral disorders at some point during the course of the disease. Furthermore, a slow and steady decline in IQ was observed on serial neuropsychologic testing in patients from both groups. Imaging studies were normal early and most commonly revealed neostriatal atrophy later in the course of the disease. In this report, we describe the characteristics of 12 patients with childhood-onset Huntington disease and review those previously reported, expanding our knowledge about the features of childhood-onset Huntington disease, underlining the differences with patients with adult-onset Huntington disease, and suggesting a differential phenotype within patients with childhood-onset Huntington disease depending on the age at onset. (J Child Neurol 2006;21:223—229; DOI 10.2310/7010.2006.00055).
The basal ganglia is a group of subcortical nuclei involved in motor control, cognition, and emotion. Basal ganglia disorders are manifested by abnormal movement and a number of neuropsychiatric ...disorders. Basal ganglia nuclei are organized into sensorimotor, associative, and limbic territories based on their connectivity and function. The caudate nucleus, putamen, and subthalamic nucleus comprise the input nuclei of the basal ganglia. The internal segment of globus pallidus and substantia nigra reticulata are the output nuclei. The input and output nuclei are interconnected by direct and indirect pathways. The cerebral cortex, basal ganglia, and thalamus communicate with each other via closed (segregated) parallel as well as open (split) loops. Recent anatomic, functional, and clinical data have necessitated modifications in the classical models of local connectivity between input and output nuclei of the basal ganglia as well as in the corticobasal ganglia-thalamus-cortical loops.
Schilder's diffuse myelinoclastic sclerosis is a rare demyelinating disease which often mimics intracranial neoplasm or abscess. We have treated 3 patients with this disorder in the past 5 years and ...followed their postoperative course. Certain distinct features of this disease will allow neurosurgeons to preoperatively entertain this diagnosis. We discuss postoperative treatment and propose a new hypothesis regarding the variable prognoses of this disorder. Schilder's disease constitutes an important diagnosis for any neurosurgeon to be aware of (especially those treating the pediatric age group) which has not received adequate coverage in the neurosurgical literature.
The etiologies of lateral rectus palsy in 132 infants and children seen over a period of 22 years in a university medical center were retrospectively reviewed and compared with similar reports in the ...literature. Unlike most reports, which lump children with adults, this study focuses on childhood etiologies of lateral rectus palsy. In contrast to the only two studies in the literature on childhood lateral rectus palsy, which reflect a purely ophthalmologic perspective, this study reflects experiences of pediatric neurology and pediatric neurosurgery, as well as ophthalmology. Most lateral rectus palsies were unilateral, almost equally distributed between right and left sides. Trauma, tumor, and congenital etiologies were the most prevalent. The relative frequency of each of these etiologies varies by service (neurology, neurosurgery, ophthalmology). In 10.6% of patients, etiology could not be determined. The majority of patients had an isolated lateral rectus palsy. Association of lateral rectus palsy with other cranial nerve palsies and/or long tract signs characterized trauma and tumor. The majority of tumors were primary and infratentorial. A small number of patients had benign recurrent lateral rectus palsy.
The clinical, neuroimaging, and neuropathologic features of Schilder's disease in a 17-year-old girl are presented and compared to 11 well-documented cases reported since 1912. The evolution of ...knowledge about Schilder's disease and the confusion in nomenclature are reviewed. Signs and symptoms in this case and others reported in the literature are nonspecific and may mimic mass lesions. Neuroimaging studies also may mimic brain tumor or abscess; however, the absence of significant edema, the irregular and incomplete ring enhancement, the discrepancy between size of the lesions and the associated mass effect, and the absence of other lesions elsewhere in the brain may help differentiate Schilder's disease from neoplasm, infection, and other demyelinating lesions. Although frozen sections of these lesions are often interpreted as astrocytoma, the inflammatory, primarily histiocytic, nature of Schilder's disease is more easily recognized in paraffin-embedded material. Unique features of this case include multiple unilateral lesions and the cyst-like degeneration present in both lesions. Multiple lesions in Schilder's disease are characteristically bilateral. The examination of aspirated fluid is the first such report in Schilder's disease. The limitation of multiple lesions in our case to one hemisphere calls for reexamination of the restrictive 1985 criteria of Poser for the diagnosis of Schilder's disease.
The hospital records of 27 children with the diagnosis of Guillain-Barré syndrome were retrospectively reviewed. Based on the time to recovery, patients were divided into two groups: group 1 ...consisted of children whose times to complete or partial recovery extended beyond 2 months from onset of the disease; group 2 consisted of children who attained a full recovery within 2 months from onset of the disease. The clinical and electrophysiologic features of the two groups were statistically compared for their predictive value of outcome. Three clinical features (maximum disability score at presentation, intubation, and cranial nerve involvement) were predictive of poor outcome, whereas one electrophysiologic feature (conduction block) was predictive of favorable outcome. There was also a significant correlation between maximum disability score at presentation and the probability of intubation. (J Child Neurol 2001;16:477-483).
A 17-year-old male presented with chronic diplopia and generalized motor weakness. He was previously diagnosed with chronic inflammatory demyelinating polyradiculoneuropathy and acute disseminated ...encephalomyelitis in childhood. Cranial magnetic resonance imaging (MRI) revealed a rarely reported finding of thickening and enhancement of multiple cranial nerves. Nerve conduction studies and electromyography showed peripheral nerve demyelination with axonal involvement. There was improvement in the clinical examination, MRI, and electrophysiologic studies after combined corticosteroid and plasma exchange therapy. We review the clinical presentation, course, and response to therapy among children with chronic inflammatory demyelinating polyradiculoneuropathy, with specific emphasis on the frequency and pattern of cranial nerve involvement. (J Child Neurol 2002;17:819—823).
Enlarged Virchow-Robin spaces along the medullary perforators on brain magnetic resonance images (MRIs) of a 4-year-old, neurologically intact child with seizures are described. The differential ...diagnosis of cystic spaces in the centrum semiovale is discussed. The sparse MRI literature on bright signal intensities in childhood is reviewed.
PDF
