Nicholas Zumberge

Focused abdominal sonography for trauma (FAST) in children with blunt abdominal trauma

BACKGROUND Focused abdominal sonography for trauma (FAST) has been well reported in adults, but its applicability in children is less well established. We decided to test the hypothesis that FAST and computed tomography (CT) are equivalent imaging studies in the setting of pediatric blunt abdominal trauma. METHODS One hundred seven hemodynamically stable children undergoing CT for blunt abdominal trauma were prospectively investigated using FAST. The ability of FAST to predict injury by detecting free intraperitoneal fluid was compared with CT as the imaging standard. RESULTS Thirty-two patients had CT documented injuries. There were no late injuries missed by CT. FAST detected free fluid in 12 patients. Ten patients had solid organ injury but no free fluid and, thus, were not detected by FAST. The sensitivity of FAST relative to CT was only 0.55 and the negative predictive value was only 0.50. CONCLUSION FAST has insufficient sensitivity and negative predictive value to be used as a screening imaging test in hemodynamically stable children with blunt abdominal trauma.

Social competence following neonatal and childhood stroke

Background Social functioning encompasses a range of important skills that an individual uses to interact with the social world. Previous studies suggest that social functioning (outcomes) may be impaired after childhood stroke, but research is limited. Aims We examined the following: (1) the effect of ischemic stroke upon social outcomes in children; (2) the correlation of cognitive abilities and problem behaviors with social outcomes; and (3) the role of infarct characteristics as predictors of social outcomes. Methods We conducted an observational case-controlled study to compare children with neonatal or childhood onset stroke and controls with chronic asthma. Neurological deficits were measured with the Pediatric Stroke Outcome Measure. Cognitive abilities, problem behavior, adaptive behavior, and social outcomes were assessed with standardized measures. Results Overall stroke cases were impaired in several areas of adaptive behaviors but not in cognitive ability, problem behaviors, or social outcomes. Children with more severe neurological deficits had impairments in a range of adaptive behaviors, social adjustment, and social participation. Impaired cognitive ability and more problem behaviors correlated with impaired social adjustment, particularly in stroke cases. Larger infarcts correlated with greater neurological impairment, lower IQ, and poorer social participation. Conclusions Stroke can result in impaired adaptive and social functioning without apparent deficits in IQ or behavior. Infarct size, residual neurological deficits, impaired cognitive ability, and problem behaviors increase the risk for poor social adjustment and participation. These findings can help the clinician anticipate impaired social functioning after pediatric stroke, which is important because age-specific treatments are available.

The diagnostic role for susceptibility-weighted MRI during sporadic hemiplegic migraine

Background Hemiplegic migraine is a rare form of migraine with aura that includes motor weakness. Diagnosis during the first episode can be difficult to make and costly, especially with the sporadic form. Cases Our study evaluates the ictal magnetic resonance imaging (MRI) features of four sequential pediatric patients during a first-time, sporadic hemiplegic migraine. Susceptibility-weighted imaging (SWI) revealed cerebral venous prominence and increased magnetic susceptibility affecting brain regions that corresponded with each patient’s neurologic deficits. Repeat MRI (performed in three patients) following migraine recovery demonstrated resolution of all susceptibility abnormalities. Conclusion When combined with conventional MRI sequences, SWI has diagnostic value in the acute setting of motor weakness and with clinical features consistent with hemiplegic migraine. The sequence may help to further characterize ictal cerebral blood flow changes during the hemiplegic migraine aura.

Outcomes in children with hemorrhagic stroke.

OBJECTIVES To determine if a specific intracerebral hemorrhage ratio predicts poor outcome; whether predictors of outcome in adults, specifically hemorrhage location, ventricular involvement, or initial Glasgow Coma Scale score, predict outcome in childhood hemorrhagic stroke; and whether the cause of hemorrhagic stroke predicts outcome. DESIGN Retrospective case study. SETTING A single tertiary care pediatric hospital. PARTICIPANTS Fifty-nine cases who had nontraumatic hemorrhages. MAIN OUTCOME MEASURES We examined whether hemorrhage volume, location, initial Glasgow Coma Scale score, or associated diagnoses predicted outcomes. We contacted survivors and parents and assessed outcomes using measures of neurological function, quality of life, and caregiver stress. RESULTS Twenty died of the hemorrhage or associated illnesses, and we obtained follow-up on 19 survivors. Most survivors had mild to moderate neurological deficits, but many reported impaired school or physical functioning. Increasing hemorrhage volume predicted poorer neurological outcomes and poorer quality-of-life ratings among survivors. Subjects who had intracranial vascular anomalies had the best outcomes of the group. Associated diagnoses strongly predicted scores on the parent- and child-rated quality-of-life measures. In contrast to what has been reported in adult studies, initial Glasgow Coma Scale score, primary location of the hemorrhage, and ventricular hemorrhage did not significantly predict outcomes, although ventricular hemorrhage was associated with trends toward poorer outcomes. CONCLUSIONS The mortality of hemorrhagic stroke in children is lower than that in adults. Childhood survivors tend to have mild to moderate physical deficits, but they may have significant impairment in other domains such as school functioning.

Assessment of the Cerebral Circulation in Adults with Coarctation of the Aorta

AIMS There is a fivefold increase in the frequency of intracranial aneurysm (IA) in adults with coarctation of the aorta (CoA). Current guidelines for management of adults with CoA recommend computed tomography angiography (CTA) or magnetic resonance imaging of the intracranial vessels. However, this recommendation has not been universally accepted. The purpose of our study was to prospectively perform CTA of the intracranial vessels in adults with CoA to evaluate the prevalence and identify high-risk features of this complication. METHODS AND RESULTS From January 2008 to February 2011, adults ≥18 years of age with CoA were prospectively enrolled in a screening program with CTA of the intracranial vessels. Analyses of prognostic variables were performed with both Fishers exact and two sample t-test. Forty-three patients (58% female, 33.55 ± 10.21 years) with CoA completed CTA of the intracranial vessels. Five patients (11%) were found to have IA. Patients with IA were older than those without (45.6 ± 8.17 vs. 30.89 ± 7.89, P = 0.0003). There were no statistically significant differences detected between measurements of fasting lipid profiles, C-reactive protein, brain natriuretic peptide, and homocysteine levels among CoA patients with and without IA (P = not significant). CONCLUSION Prospective screening of adults with CoA confirmed the increased prevalence of IA but also identified increased age as the sole risk factor. These data suggested that screening is justified particularly in the fourth and fifth decades of life. Further studies are required that focus on the development, natural history, and treatment of IA.

SHH desmoplastic/nodular medulloblastoma and Gorlin syndrome in the setting of Down syndrome: case report, molecular profiling, and review of the literature

IntroductionIndividuals with Down syndrome (DS) have an increased risk of acute leukemia compared to a markedly decreased incidence of solid tumors. Medulloblastoma, the most common malignant brain tumor of childhood, is particularly rare in the DS population, with only one published case. As demonstrated in a mouse model, DS is associated with cerebellar hypoplasia and a decreased number of cerebellar granule neuron progenitor cells (CGNPs) in the external granule cell layer (EGL). Treatment of these mice with sonic hedgehog signaling pathway (Shh) agonists promote normalization of CGNPs and improved cognitive functioning.Case reportWe describe a 21-month-old male with DS and concurrent desmoplastic/nodular medulloblastoma (DNMB)—a tumor derived from Shh dysregulation and over-activation of CGNPs. Molecular profiling further classified the tumor into the new consensus SHH molecular subgroup. Additional testing revealed a de novo heterozygous germ line mutation in the PTCH1 gene encoding a tumor suppressor protein in the Shh pathway.DiscussionThe developmental failure of CGNPs in DS patients offers a plausible explanation for the rarity of medulloblastoma in this population. Conversely, patients with PTCH1 germline mutations experience Shh overstimulation resulting in Gorlin (Nevoid Basal Cell Carcinoma) syndrome and an increased incidence of malignant transformation of CGNPs leading to medulloblastoma formation. This represents the first documented report of an individual with DS simultaneously carrying PTCH1 germline mutation.ConclusionWe have observed a highly unusual circumstance in which the PTCH1 mutation appears to “trump” the effects of DS in causation of Shh-activated medulloblastoma.

Image-guided percutaneous removal of ballistic foreign bodies secondary to air gun injuries

BackgroundBallistic injuries with retained foreign bodies from air guns is a relatively common problem, particularly in children and adolescents. If not removed in a timely fashion, the foreign bodies can result in complications, including pain and infection. Diagnostic methods to identify the presence of the foreign body run the entire gamut of radiology, particularly radiography, ultrasound (US) and computed tomography (CT). Removal of the foreign bodies can be performed by primary care, emergency, surgical, and radiologic clinicians, with or without imaging guidance.ObjectiveTo evaluate the modalities of radiologic detection and the experience of image-guided ballistic foreign body removal related to air gun injuries within the interventional radiology department of a large pediatric hospital.Materials and methodsA database of more than 1,000 foreign bodies that were removed with imaging guidance by the interventional radiologists at our institution was searched for ballistic foreign bodies from air guns. The location, dimensions, diagnostic modality, duration, complications and imaging modality used for removal were recorded. In addition, the use of sedation and anesthesia required for the procedures was also recorded.ResultsSixty-one patients with ballistic foreign bodies were identified. All foreign bodies were metallic BBs or pellets. The age of the patients ranged from 5 to 20 years. The initial diagnostic modality to detect the foreign bodies was primarily radiography. The primary modality to assist in removal was US, closely followed by fluoroscopy. For the procedure, 32.7% of the patients required some level of sedation. Only two patients had an active infection at the time of the removal. The foreign bodies were primarily in the soft tissues; however, successful removal was also performed from intraosseous, intraglandular and intratendinous locations. All cases resulted in successful removal without complications.ConclusionImage-guided removal of ballistic foreign bodies secondary to air guns is a very effective procedure that can obviate the need for open surgical procedures in children.

ACR Appropriateness Criteria(®) Back Pain-Child.

It is now generally accepted that nontraumatic back pain in the pediatric population is common. The presence of isolated back pain in a child has previously been an indication for imaging; however, recently a more conservative approach has been suggested using clinical criteria. The presence of constant pain, night pain, and radicular pain, alone or in combination, lasting for 4 weeks or more, constitute clinical red flags that should prompt further imaging. Without these clinical red flags, imaging is likely not indicated. Exceptions include an abnormal neurologic examination or clinical and laboratory findings suggesting an infectious or neoplastic etiology, and when present should prompt immediate imaging. Initial imaging should consist of spine radiographs limited to area of interest, with spine MRI without contrast to evaluate further if needed. CT of the spine, limited to area of interest, and Tc-99m bone scan whole body with single-photon emission computed tomography may be useful in some patients. The addition of intravenous contrast is also recommended for evaluation of a potential neoplastic or infectious process. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision include an extensive analysis of current medical literature from peer reviewed journals and the application of well-established methodologies (RAND/UCLA Appropriateness Method and Grading of Recommendations Assessment, Development, and Evaluation or GRADE) to rate the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where evidence is lacking or equivocal, expert opinion may supplement the available evidence to recommend imaging or treatment.

Ultrasound-Guided Transgluteal Percutaneous Nephrolithotomy for a Patient with Complex Urogenital Reconstruction and Ectopic Kidney.

BACKGROUND AND PURPOSE Pediatric patients with urolithiasis and complex reconstructed genitourinary anatomy pose a significant surgical challenge. We describe a technique utilized to treat an obstructing calculus in the ectopic kidney of a patient with a history of cloacal exstrophy, bladder augmentation, Monti catheterizable channel, and reconstructed abdominal wall. Case and Technique: A 5-year-old female with a history of cloacal exstrophy, pelvic kidney, and reconstructed urologic and abdominal wall anatomy presented after prior shockwave lithotripsy with an obstructing ureteropelvic junction calculus with signs of sepsis. Because of the patients previous abdominal wall reconstruction with polytetrafluoroethylene mesh and the location of her pelvic kidney, traditional methods of percutaneous nephrostomy tube placement could not be performed. Transgluteal percutaneous nephrostomy tube was placed by interventional radiology. Subsequently, a percutaneous nephrolithotomy (PCNL) was performed through this tract. CONCLUSIONS Transgluteal PCNL is a feasible option in children with complex congenital genitourinary anomalies with a history of reconstructed anatomy.