Outcomes of systematic screening for optic pathway tumors in children with Neurofibromatosis Type 1.

Optic pathway tumors (OPT) occur in about 15% of individuals with Neurofibromatosis Type 1 (NF1) and may effect substantial visual loss. Because their growth is not predictable at the time of discovery, neuroimaging for OPT in asymptomatic NF1 patients remains controversial. We evaluated the outcomes of systematic screening by both MRI and ophthalmic examinations for OPT in young children with NF1 seen at multi-disciplinary clinics for Neurofibromatosis and Genetics at one institution between 1996 and 2001. We report on 84 children who presented with NF1 under age 6 years, of whom 13 children presented with either known OPT or abnormal MRI findings and 11 children had OPTs identified by neuroimaging, including two children with abnormal eye examinations at presentation (one with strabismus and one with optic atrophy). Nine OPTs were detected in asymptomatic subjects with normal ophthalmic examinations. Three children with chiasmal lesions enlarging on subsequent MRI were treated with carboplatin and vincristine. After treatment, the vision in each involved eye was intact. In contrast, the 13 children with OPT diagnosed outside of screening guidelines included five children with substantial visual loss. Our observations suggest that early recognition of NF1 promotes appropriate surveillance and allows early intervention to reduce complications of OPT. This analysis supports prospective studies to compare the outcomes of systematic screening with neuroimaging to screening with ophthalmic examinations alone in children with NF1.

Puncture-proof picture archiving and communication system.

As we become increasingly dependent on our picture archiving and communications system (PACS) for the clinical practice of medicine, the demand for improved reliability becomes urgent. Borrowing principles from the discipline of Reliability Engineering, we have identified components of our system that constitute single points of failure and have endeavored to eliminate these through redundant components and manual work-around procedures. To assess the adequacy of our preparations, we have identified a set of plausible events that could interfere with the function of one or more of our PACS components. These events could be as simple as the loss of the network connection to a single component or as broad as the loss of our central data center. We have identified the need to continue to operate during adverse conditions, as well as the requirement to recover rapidly from major disruptions in service. This assessment led us to modify the physical locations of central PACS components within our physical plant. We are also taking advantage of actual disruptive events coincident with a major expansion of our facility to test our recovery procedures. Based on our recognition of the vital nature of our electronic images for patient care, we are now recording electronic images in two copies on disparate media. The image database is critical to both continued operations and recovery. Restoration of the database from periodic tape backups with a 24-hour cycle time may not support our clinical scenario: acquisition modalities have a limited local storage capacity, some of which will not contain the daily workload. Restoration of the database from the archived media is an exceedingly slow process, that will likely not meet our requirement to restore clinical operations without significant delay. Our PACS vendor is working on concurrent image databases that would be capable of nearly immediate switchover and recovery.

Paranasal sinus development in chronic sinusitis, cystic fibrosis, and normal comparison population: a computerized tomography correlation study.

Chronic sinus disease in patients with and without cystic fibrosis may have an impact on the pattern of paranasal sinus pneumatization. Arrest of pneumatization has been reported in both of these conditions. To assess the development of the paranasal sinuses in relationship to chronic sinusitis and cystic fibrosis (CF), a retrospective review of coronal CT scans of the age-matched patients with no previous sinus disease, patients with chronic sinusitis, and cystic fibrosis patients was conducted. The patients' ages ranged from 4 to 17 years. The maxillary sinus volume, anteroposterior diameter, and greatest transverse diameter and height were determined using image analysis software after the coronal CT scans were scanned into Macintosh computer. The size of the maxillary sinus increased with advancing age in the control and chronic sinusitis group, but not in the patients with cystic fibrosis. The patients with cystic fibrosis had a statistically significant smaller maxillary sinus size. Approximately 50% of the patients with chronic sinusitis had anatomic anomalies, the most common being paradoxical middle turbinates. The CT scans of CF patients were characterized by uncinate process demineralization and medial displacement of the lateral nasal wall in the middle meatus, and decreased maxillary sinus pneumatization.

Dural inversion procedure for moyamoya disease. Technical note.

A variety of surgical procedures have been proposed for the treatment of moyamoya disease, but few have used the potential of the middle meningeal artery to any great extent. During the period of spontaneous collateral formation, patients with this disease are at risk for the development of transient ischemic attacks and strokes. Surgical treatments aimed at increasing collateral flow to the brain from the external carotid system have included both direct and indirect anastomotic methods. In this report, the authors describe a technique that used the middle meningeal artery circulation as a source of collateral blood supply by inverting dural flaps that are located on a large meningeal vessel, allowing the richly vascularized outer dural surface to contact a large surface area of the ischemic cortex. An extensive degree of revascularization was observed.

Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)

Smith-Magenis syndrome (SMS) is a multiple congenital anomaly, mental retardation (MCA/MR) syndrome associated with deletion of chromosome 17 band p11.2. As part of a multi-disciplinary clinical, cytogenetic, and molecular approach to SMS, detailed clinical studies including radiographic, neurologic, developmental, ophthalmologic, otolaryngologic, and audiologic evaluations were performed on 27 SMS patients. Significant findings include otolaryngologic abnormalities in 94%, eye abnormalities in 85%, sleep abnormalities (especially reduced REM sleep) in 75%, hearing impairment in 68% (approximately 65% conductive and 35% sensorineural), scoliosis in 65%, brain abnormalities (predominantly ventriculomegaly) in 52%, cardiac abnormalities in at least 37%, renal anomalies (especially duplication of the collecting system) in 35%, low thyroxine levels in 29%, low immunoglobulin levels in 23%, and forearm abnormalities in 16%. The measured IQ ranged between 20-78, most patients falling in the moderate range of mental retardation at 40-54, although several patients scored in the mild or borderline range. The frequency of these many abnormalities in SMS suggests that patients should be evaluated thoroughly for associated complications both at the time of diagnosis and at least annually thereafter.

Tethered-cord syndrome after repair of meningomyelocele.

The occurrence of tethered-cord syndrome is one of the delayed consequences of the repair of meningo-myelocele. The existing neurological deficit worsens, or a new deficit is superimposed on the existing one. In addition, urological and orthopedic symptoms are also frequently encountered. Although radiological studies may be suggestive of tethering of the cord, not all children are symptomatic. Magnetic resonance imaging is the best radiologic study available. Ultrasonography, although economical and easy to perform, does not yield an optimal image. It appears that a careful periodic clinical evaluation is the best way to evaluate the patients for surgery.

Computed tomographic appearance of lissencephaly syndromes.

Lissencephaly is a rare malformation of the human brain manifest by a smooth cerebral surface. It is usually associated with other brain anomalies. The computed tomographic appearance in nine patients with lissencephaly, representing several separate types and syndromes, is reported. Common manifestations include a smooth cerebral surface and absent opercula that may lend a figure-eight appearance to the brain and smooth subsurface lines that represent abnormal cortical layers or an abnormal white-gray interface.

Spinal metastasis in primitive neuroectodermal tumors (medulloblastoma) of the posterior fossa: evaluation with CT myelography and correlation with patient age and tumor differentiation.

Twelve consecutive children with primitive neuroectodermal tumors of the posterior fossa (PNET-PF) were evaluated for spinal metastases with CT metrizamide myelography (CTMM) in the early postoperative period. Metastases were identified in 5 children (42%) and all were noted to have deposits in the thoracic region. All children with metastases were less than 3 years old and had differentiated PNET-PF.

Calcium, magnesium, and phosphorus metabolism, and parathyroid-calcitonin function during prolonged exposure to elevated CO2 concentrations on submarines.

Studies of calcium and phosphorus metabolism and acid-base balance were carried out on three Fleet Ballistic Missile (FBM) submarines during prolonged exposure to elevated concentrations of CO2. The average CO2 concentration in the submarine atmosphere during patrols ranged from 0.85% to 1% CO2. In the three studies, in which 9--15 subjects participated, the urinary excretion of calcium and phosphate fell during the first three weeks to a level commensurate with a decrease in plasma calcium and increase in phosphorus. In the fourth week of one patrol, a marked increase was found in urinary calcium excretion, associated with a rise in blood PCO2 and bicarbonate. Urinary calcium excretion decreased again during the 5th to 8th week, with a secondary decrease in blood pH and plasma calcium. During the third patrol, the time course of acid-base changes corresponded well with that found during the second patrol. There was a trend toward an increase in plasma calcium between the fourth and fifth week commensurate with the transient rise in pH and bicarbonate. Plasma parathyroid and calcitonin hormone activities were measured in two patrols and no significant changes were found. Hydroxyproline excretion decreased in the three-week study and remained unchanged in the second patrol, which lasted 57 days. It is suggested that during prolonged exposure to low levels of CO2 (up to 1% CO2), calcium metabolism is controlled by the uptake and release of CO2 in the bones. The resulting phases in bone buffering, rather than renal regulation, determine acid-base balance.