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Biomedical subjects

J C Egelhoff

Publications and source records attributed to J C Egelhoff.

At least 19 recordsLinked to original sources
PubMed2005

Brain MRI and proton MRS findings in infants and children with respiratory chain defects.

OBJECTIVE: The aim of this study is to describe neuroimaging patterns in children with respiratory chain (RC) defects using magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (MRS) and to assess their role in the diagnostic evaluation. METHOD: Neuroimaging studies of 49 children (newborn to 15 years old) with biochemical evidence of RC defect were reviewed. Patients were divided in 3 groups ("definite" = 24, "probable" = 14, "possible" = 11) according to Modified Adult Criteria for the diagnosis of RC defect. Eighty-one MRI studies were reviewed for deep gray and white matter changes, degree of myelination, cerebral and cerebellar atrophy, and 67 proton MRS studies were assessed for the presence or absence of lactate elevation, as well as NAA/Cr ratio. The findings were compared among the 3 groups with chi-square test. RESULTS: All patients with "pure" myopathy had normal imaging studies. In patients with CNS involvement, significant differences in the frequency of imaging abnormalities among groups were found for deep gray matter (43 %/8 %/0 %; p = 0.01) and for the presence of lactate elevation on proton MRS (81 %/31 %/0 %; p = 0.001). CONCLUSION: Brain MRI and proton MRS abnormalities were observed only in association with clinical CNS involvement. Deep gray matter signal abnormalities on structural imaging and lactate elevation on proton MRS were more frequently observed in the "definite" group and represent neuroimaging markers for RC mitochondriopathy.

Aspartic Acid↗
PubMed2001

Lamotrigine therapy of epilepsy in tuberous sclerosis.

PURPOSE: Lamotrigine (LTG), a newer antiepileptic drug (AED), has activity against both partial-onset and generalized seizures. Its reported benefits for behavior, and its effectiveness in Lennox-Gastaut syndrome and other forms of refractory epilepsy, make it a logical choice for treatment of epilepsy in tuberous sclerosis complex (TSC). We present our experience with LTG therapy of epilepsy in 57 patients with TSC. METHODS: Patients fulfilled the diagnostic criteria for clinically definite TSC. LTG was initiated and increased until improvement in seizure frequency was noted, intolerable side effects occurred, or maximal doses were reached. Seizure frequency and behavioral changes were recorded during LTG therapy and compared with those prior to the introduction of LTG. RESULTS: Twenty-four (42%) were seizure free, and 21 (37%) had a >50% reduction in seizure frequency. Eighteen (32%) had subjectively improved behavior and/or alertness with daily activities. Thirty-eight (67%) had no change in this regard, whereas one (2%) became worse. Responders were more likely to not have a history of infantile spasms, and to have experienced only partial seizures (p < 0.05). Otherwise no phenotypic correlations with response were apparent. CONCLUSIONS: Among patients with TSC and epilepsy, LTG was effective and well tolerated, including as initial monotherapy. Improved alertness and behavior were apparent in many patients. The incidence of side effects is similar to that reported for other pediatric populations with symptomatic partial epilepsy. The usefulness of LTG in TSC may relate to an underlying defect of glutamatergic neurotransmission in partial epilepsy.

Adolescent↗
PubMed2000

Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.

Tuberous sclerosis (TSC) is a relatively common hamartoma syndrome caused by mutations in either of two genes, TSC1 and TSC2. Here we report comprehensive mutation analysis in 224 index patients with TSC and correlate mutation findings with clinical features. Denaturing high-performance liquid chromatography, long-range polymerase chain reaction (PCR), and quantitative PCR were used for mutation detection. Mutations were identified in 186 (83%) of 224 of cases, comprising 138 small TSC2 mutations, 20 large TSC2 mutations, and 28 small TSC1 mutations. A standardized clinical assessment instrument covering 16 TSC manifestations was used. Sporadic patients with TSC1 mutations had, on average, milder disease in comparison with patients with TSC2 mutations, despite being of similar age. They had a lower frequency of seizures and moderate-to-severe mental retardation, fewer subependymal nodules and cortical tubers, less-severe kidney involvement, no retinal hamartomas, and less-severe facial angiofibroma. Patients in whom no mutation was found also had disease that was milder, on average, than that in patients with TSC2 mutations and was somewhat distinct from patients with TSC1 mutations. Although there was overlap in the spectrum of many clinical features of patients with TSC1 versus TSC2 mutations, some features (grade 2-4 kidney cysts or angiomyolipomas, forehead plaques, retinal hamartomas, and liver angiomyolipomas) were very rare or not seen at all in TSC1 patients. Thus both germline and somatic mutations appear to be less common in TSC1 than in TSC2. The reduced severity of disease in patients without defined mutations suggests that many of these patients are mosaic for a TSC2 mutation and/or have TSC because of mutations in an as-yet-unidentified locus with a relatively mild clinical phenotype.

Adolescent↗
PubMed1999

Correlation between computed tomography and surgical findings in retropharyngeal inflammatory processes in children.

Retropharyngeal abscess (RPA) in children is a potentially life-threatening process which often requires immediate surgical intervention. Contrast enhanced computed tomography (CT) is utilized frequently to determine abscess versus cellulitis/phlegmon and aids in determining cases needing surgical drainage. The purpose of this retrospective study was to determine the accuracy of CT in distinguishing retropharyngeal abscess from cellulitis in children. The medical records of 32 children from 1989 to 1997 suspected of having a retropharyngeal abscess were reviewed. All patients included in the study underwent a CT scan as well as surgical exploration within 48 h of the scan. Two patients required two surgical procedures (n = 34). A comparison between CT results and operative findings was made to determine the accuracy of CT imaging in confirming the presence of RPA versus cellulitis. Suspected diagnosis of abscess or cellulitis/phlegmon on CT was confirmed at surgery in 25 of 34 cases (73.5%). The false positive rate of CT scan was 11.8% (4/34), while the false negative rate was 14.7% (5/34). Based on our results, CT is accurate in differentiating abscess from cellulitis in 73.5% of cases. Clinical findings, as well as radiologic findings, must be considered together prior to surgical drainage of a suspected retropharyngeal abscess in children.

Cellulitis↗
PubMed1999

MR imaging of congenital anomalies of the pediatric spine.

Congenital anomalies of the pediatric spine are ideally evaluated with MR imaging. The wide spectrum of pathology in this category of disease is dramatically displaced for both diagnosis and treatment planning for the neurosurgeon. An understanding of embryology and knowledge of the clinical presentation combined with the MR imaging findings allows the radiologist to play a key role in the evaluation of these complex anomalies.

Child↗
PubMed1998

Central nervous system relapse of treated stage IV neuroblastoma.

Neuroblastoma is the most common extracranial solid tumor in pediatrics. The long-term survival of patients with advanced-stage neuroblastoma has remarkably improved secondary to aggressive treatment protocols including autologous bone marrow transplant (BMT). As a result, a different natural history of this disease is being reported with unusual, late manifestations. The central nervous system (CNS), once a rare site of disease, is being involved with increasing frequency. Appropriate neuroimaging in these patients is important. Two cases of patients with treated stage IV neuroblastoma who developed isolated CNS metastases are presented. The proposed pathogenesis and neuroradiologic manifestations of this complication are reviewed.

Adrenal Gland Neoplasms↗
PubMed1998

Atretic parietal cephaloceles revisited: an enlarging clinical and imaging spectrum?

PURPOSE: We describe imaging features that are clues to the diagnosis of atretic cephaloceles and discuss clinical findings and a possible mechanism by which these lesions develop. METHODS: Eight children (five girls and three boys) ranging in age from 1 day to 3 years 4 months with midline subscalp lesions underwent radiologic examination with CT or MR imaging. In all cases, the lesions were surgically excised and subjected to pathologic examination. Imaging studies and medical records were reviewed retrospectively. RESULTS: Six of eight children had vertical embryonic positioning of the straight sinus with a prominent superior cerebellar cistern. A "spinning-top" configuration of the tentorial incisura, a "cigar-shaped" CSF tract within the interhemispheric fissure, fenestration of the superior sagittal sinus, and "peaking" of the tentorium were associated findings helpful in making this diagnosis. Two of the eight children had findings indistinguishable from focal dermoid, six were developmentally normal, one had mild motor delay, and one died at the age of 3 years. Pathologic examination revealed glial, meningeal (arachnoid), fibrous, and dermal elements. CONCLUSION: Characteristic findings on MR images and CT scans provide clues to the diagnosis of atretic cephalocele. However, even in the presence of abnormal imaging findings, these children may be developmentally normal.

Cerebellum↗
PubMed1998

Air bag-related deaths and serious injuries in children: injury patterns and imaging findings.

BACKGROUND AND PURPOSE: As of November 1, 1997, automotive air-bag deployments occurring in low-speed collisions had resulted in the deaths of 49 children and in the serious injuries of 19 children in the United States. The purpose of this study was to investigate the patterns of injury occurring in this new mechanism of pediatric trauma. METHODS: In search of common patterns of injury, three pediatric radiologists retrospectively evaluated the available autopsy and imaging studies in 11 such cases not previously reported in the medical literature, in addition to three published case studies. RESULTS: The cause of death or serious injury in every case was the direct result of neurologic injury. Injury patterns differed according to the child's age and type of restraint used at the time of collision. Crush injury to the skull predominated in infant victims traveling in rear-facing child safety seats, and both cranial and cervical spine trauma occurred in older children traveling restrained, improperly restrained, or unrestrained in the vehicle's front passenger seat. CONCLUSION: Air-bag systems pose a potentially fatal threat to the front-seat child passenger. This is directly related to the biomechanics at impact placing the child closer to the deploying air bag. An understanding of the biomechanics provides the radiologist insight into the two types of injury patterns observed.

Air Bags↗
PubMed1997

Thoracic tumors in children with neurofibromatosis-1.

Thoracic tumors have been infrequently reported as a complication of neurofibromatosis-1 (NF1). To determine the prevalence and clinical features of thoracic tumors seen in children with NF1, we reviewed medical records and imaging studies for a group of 260 pediatric patients with NF1 followed in a multidisciplinary NF Center. Extrapleural thoracic tumors were seen in nine patients with NF1, corresponding to a prevalence of 3.5% in this hospital-based series of patients. Pathological studies of the tumors demonstrated plexiform neurofibroma in four cases and neurofibrosarcoma in one case. The remaining four cases were suspected to be plexiform neurofibroma based on clinical features but have not been confirmed histologically. Three patients presented with symptoms of chest pain, syncope, or wheezing; six patients were asymptomatic at the time of diagnosis of the tumors. Physical findings frequently found in patients with thoracic tumors were scoliosis (especially focal scoliosis) and visible plexiform neurofibromas of the neck. We conclude that NF1 patients presenting with any of these signs and symptoms should be screened for thoracic tumors with chest X-ray and magnetic resonance imaging as needed. It is unknown whether screening asymptomatic NF1 patients with chest X-rays on a regular basis will result in an improved outcome.

Adolescent↗
PubMed1997

Trilateral retinoblastoma with suprasellar involvement.

"Trilateral retinoblastoma" (TRB) is the association of a midline intracranial tumor with familial bilateral retinoblastoma. Classically, the intracranial tumor is a pineal region tumor (pineoblastoma) with histology similar to retinoblastoma. We present a 7-month-old child with bilateral orbital retinoblastoma with a third tumor arising in the chiasmatic cistern. The presentation and prognosis of patients with this association differ from those children with "classical" TRB. The presentation, treatment, and outcome are described, with a review of the literature.

Brain Neoplasms↗
PubMed1997

Safety and efficacy of sedation in children using a structured sedation program.

OBJECTIVE: The purpose of this study was to evaluate the safety and efficacy of sedating pediatric outpatients in a radiology department using a structured sedation program modeled after the guidelines of the American Academy of Pediatrics. MATERIALS AND METHODS: Medical records of 6006 pediatric outpatients who underwent sedation for imaging studies under the guidelines of a structured sedation program were retrospectively reviewed for safety and efficacy of sedation, complications related to sedation, and rate of successful sedation. RESULTS: No cases of cardiovascular or respiratory arrest or fatalities occurred. Four children who required overnight hospitalization because of CNS depression had no sequelae. Forty-eight patients experienced transient respiratory depression that proved responsive to supplemental oxygen. Delayed complications were found in 29 children, none of whom required hospitalization. The rate of sedation failure was approximately 1%. CONCLUSION: Sedation of children can be done in a safe and highly efficacious manner in a hospital radiology department using a structured sedation program modeled after the guidelines of the American Academy of Pediatrics.

Adolescent↗
PubMed1997

Hypertensive encephalopathy in children.

We present five cases of hypertensive encephalopathy in children, three with MR imaging findings and two with CT findings alone. One of the five patients had MR perfusion imaging, which showed perfusion abnormalities that support the concept of vasodilation as the major contributor to the syndrome. Hypertensive encephalopathy is rarely reported in children, and its true prevalence may be underestimated. Characteristic lesions in the severely hypertensive child should be recognized as manifestations of hypertensive encephalopathy, and subsequent clinical management should focus on treatment of the hypertension and/or its underlying causes.

Adolescent↗
PubMed1997

Congenital epulis.

Congenital epulis of the newborn is a rare gingival tumor that occurs along the alveolar ridge. We report the prenatal sonographic and postnatal MR imaging findings in an infant with maxillary and mandibular congenital epulides.

Adult↗
PubMed1996

Unusual CNS presentation of neuroblastoma.

Neuroblastoma is a common tumor of childhood, usually occurring in children under 4 years of age [1]. We report a case of a 10-year old child who initially presented with a large calvarial mass representing a solitary site of metastasis from an occult adrenal neuroblastoma. The sunburst pattern of the calvarial metastasis noted in this case is rarely seen with neuroblastoma. The age of our patient, solitary focus of metastasis at presentation, and imaging appearance of the tumor are very uncommon findings of neuroblastoma.

Adrenal Gland Neoplasms↗
PubMed1993

Decreased incidence of intracranial hemorrhage using cephalic jugular venous drainage during neonatal extracorporeal membrane oxygenation.

Intracranial hemorrhage (ICH) remains one of the more common serious complications of extracorporeal membrane oxygenation (ECMO) in neonates. In 1990 this center began routine use of cephalic jugular venous drainage during neonatal ECMO to augment blood return to the ECMO pump and potentially decrease the incidence of ICH by decreasing cerebral venous pressure. Thirty-four ECMO cases utilizing cephalic jugular venous drainage were compared with the previous 34 ECMO cases. The incidence of ICH decreased from 35% (12/34) to 6% (2/34) when neonates without cephalic jugular venous drainage are compared with those being subject to this technique (P < .01). No differences were found between the two groups in gestational age, birth weight, duration of ECMO, survival, platelet counts, activated clotting times, or incidence of other bleeding complications. Cephalic jugular venous drainage during neonatal ECMO appears to be safe and may decrease the incidence of ICH.

Catheterization, Central Venous↗
PubMed1992

Kidney function in very low birth weight infants with furosemide-related renal calcifications at ages 1 to 2 years.

To determine whether long-term renal sequelae follow the use of furosemide in preterm infants, we evaluated renal function in 27 former very low birth weight infants (less than 1500 gm) at 1 to 2 years of age. Patients were classified into three groups on the basis of status at the time of discharge from the hospital: group 1 (n = 7) had no furosemide treatment or renal calcifications, group 2 (n = 10) had furosemide therapy but no calcifications, and group 3 (n = 10) had furosemide therapy with renal calcifications. Renal ultrasonography at the time of the study demonstrated resolution of the calcifications in six patients in group 3. No differences in renal function were observed between groups 1 and 2. Creatinine clearance (mean +/- SEM) in group 3 (83.6 +/- 7.8 ml/min per 1.73 m2) was significantly lower than clearance in groups 1 and 2 (103.2 +/- 6.5 and 109.1 +/- 5.1, respectively; p less than 0.05). Children in group 3 had significantly higher urinary calcium/creatinine ratios and fractional excretion of sodium and lower tubular reabsorption of phosphate than children in the two other groups had. Urine-blood difference in carbon dioxide tension after oral acetazolamide load, which indicates the ability of the distal tubule to secrete hydrogen ions, was 8.4 +/- 3.4 mm Hg in group 3, significantly lower than values in groups 1 and 2 (22.6 +/- 3.1 and 28.0 +/- 4.3 mm Hg, respectively, p less than 0.05). Within group 3 the four children with persistent renal calcifications had significantly lower urine-blood carbon dioxide tension differences than did those with resolution of calcifications (p = 0.02). We conclude that furosemide-related renal calcifications in very low birth weight infants may lead to glomerular and tubular dysfunction; further long-term follow-up of this population is recommended.

Absorption↗
PubMed1991

Furosemide-related renal calcifications in the premature infant. A longitudinal ultrasonographic study.

Low birthweight infants treated with chronic furosemide therapy are at risk for the development of intrarenal calcifications. A prospective longitudinal renal ultrasound investigation was conducted to study the correlation of diuretic therapy, clinical course and ultrasonographic findings. Of 117 premature infants studied ultrasonographically upon discharge from the hospital, 20 had intrarenal calcifications. Eight patients at age 16.3 +/- 2.6 months had sonographic resolution of renal calcifications, 6.6 +/- 1.1 months after furosemide therapy had been discontinued. Of the 12 patients with persistent calcifications, 4 died from severe pulmonary disease and autopsy in 3 of them confirmed the ultrasonographic diagnosis. All 12 children but 2 continued to receive furosemide for their chronic lung disease demonstrating significant association between chronic use of loop diuretics and persistence fo the renal calcifications (p less than 0.001). Two patients required nephrolithotomy and 4 suffered from recurrent urinary tract infections. In 4 patients, 5 kidneys were of small size and in 2 bilateral collecting system dilation was noted. We conclude that discontinuation of furosemide therapy is associated with resolution of the renal calcifications. On the other hand, continued treatment with furosemide is associated with high renal morbidity which indicates ongoing clinical and ultrasonographic follow-up.

Child, Preschool↗