Avrum N. Pollock

Silent infarcts in young children with sickle cell disease

Silent infarcts have been reported most commonly in school‐aged children with homozygous sickle cell disease (SCD‐SS) and are associated with neurocognitive deficits. However, the prevalence of silent infarcts in younger children with SCD‐SS is not well defined. In this retrospective study, brain magnetic resonance imaging and angiography (MRI/A) studies performed before 6 years of age in a cohort of children with SCD‐SS were analysed and the prevalence of abnormalities was calculated. Clinical and laboratory parameters were compared between the groups with and without silent infarcts. Sixty‐eight of 96 children in the cohort had brain MRI/A performed prior to age 6 years. Of the 65 who were neurologically asymptomatic, 18 (27·7%, 95% CI 17·3–40·2%) had silent infarcts (mean age 3·7 ± 1·1 years, range 1·3–5·9 years). Factors associated with silent infarcts included cerebral vessel stensosis by magnetic resonance angiography, lower rates of vaso‐occlusive pain and acute chest syndrome and lower haemoglobin levels. The prevalence of silent infarcts in young children with SCD‐SS is similar to that of older children and anaemia and severe vasculopathy may be risk factors.

Subdural hemorrhage in pediatric patients with enlargement of the subarachnoid spaces

OBJECT Enlargement of the subarachnoid spaces has been theorized as a risk factor for the development of subdural hemorrhage (SDH). As the finding of unexplained SDH in children often raises suspicion for nonaccidental trauma, the possibility of increased risk of SDH in children with enlargement of the subarachnoid spaces has important clinical, social, and legal implications. Therefore, the authors evaluated the frequency of SDH in a cohort of children with enlargement of the subarachnoid spaces. METHODS The authors identified children younger than 2 years of age who were diagnosed with enlargement of the subarachnoid spaces on MRI or CT scanning in a large primary care network between July 2001 and January 2008. The authors excluded children who had enlargement of the subarachnoid spaces diagnosed on imaging performed for trauma or developmental delay, as well as children with a history of prematurity, diagnosis of intracranial pathology, or metabolic or genetic disorders. Chart review recovered the following data: patient demographics, head circumference, history of head trauma, and head imaging results. For the subset of children with SDH, information regarding evaluation for other injuries, including skeletal survey, ophthalmological examination, and child protection team evaluation, was abstracted. RESULTS There were 177 children with enlargement of the subarachnoid spaces who met the inclusion criteria. Subdural hemorrhage was identified in 4 (2.3%) of the 177 children. All of the children with SDH underwent evaluations for suspected nonaccidental trauma, which included consultation by the child protection team, skeletal survey, and ophthalmological examination. Additional injuries (healing rib fractures) were identified in 1 of 4 patients. None of the 4 children had retinal hemorrhages. Only the child with rib fractures was reported to child protective services due to concerns for abuse. CONCLUSIONS Only a small minority of the patients with enlargement of the subarachnoid spaces had SDH. Evidence of additional injuries concerning for physical abuse were identified in a quarter of the children with enlargement of the subarachnoid spaces and SDH, suggesting that an evaluation for suspected nonaccidental trauma including occult injury screening should be performed in cases of SDH with enlargement of the subarachnoid spaces. In the absence of additional injuries, however, the presence of an unexplained SDH in the setting of enlargement of the subarachnoid spaces may be insufficient to support a diagnosis of nonaccidental trauma.

Chromosome band 7q34 deletions resulting in KIAA1549-BRAF and FAM131B-BRAF fusions in pediatric low grade gliomas

The majority of pediatric low‐grade gliomas (LGGs) are characterized by constitutive activation of the mitogen‐activated protein kinase (MAPK) pathway through various mechanisms including BRAF mutations, inactivation of NF1, and KIAA1549‐BRAF and FAM131B‐BRAF fusions. The KIAA1549‐BRAF fusion typically results from a 2.0 Mb tandem duplication in chromosome band 7q34. In the present study, single nucleotide polymorphism (SNP)‐based array analysis of three LGGs demonstrated deletions in 7q34 that resulted in a BRAF fusion. Case 1 was likely a pilocytic astrocytoma (PA) with three deletions in 7q33q34 and an exon 15‐9 KIAA1549‐BRAF fusion. SNP array analysis of case 2, a possible dysembryoplastic neuroepithelial tumor (DNT), revealed a 2.6 Mb deletion, which included the 5′ end of BRAF and extended to the 3′ end of FAM131B. In case 3, deletions involving BRAF and FAM131B were observed in both a primary and a recurrent PA. RNA‐based sequence analysis of cases 2 and 3 confirmed a fusion between FAM131B exon 2 and BRAF exon 9. The presence of fusion transcripts in these three LGGs highlights the utility of SNP array analysis to identify deletions that are suggestive of fusion proteins. BRAF fusions can result from multiple non‐overlapping deletions, suggesting various complex mechanisms of formation.

Takayasu arteritis presenting as cerebral aneurysms in an 18 month old: A case report

BackgroundCentral nervous system involvement occurs in as many as twenty percent of Takayasu arteritis cases. When central nervous system disease is present, it typically manifests as cerebral ischemia or stroke. There are rare reports of intracranial aneurysms in adults with Takayasu arteritis, but none in children.Case presentationWe describe a case of Takayasu arteritis in an 18 month old girl who presented with a ruptured cerebral aneurysm. Full body magnetic resonance angiography revealed bilateral iliac, pelvic and intragluteal aneurysms, irregular terminal aorta, and stenotic renal arteries. Iliac vessel biopsy showed a lymphocytic infiltrate and giant cells localized to the internal elastica.ConclusionThis case highlights cerebral aneurysm as a highly unusual initial manifestation of Takayasu arteritis and demonstrates the challenges of diagnosis, treatment, and assessment of response to therapy in TA in children.

Retinal hemorrhage and brain injury patterns on diffusion-weighted magnetic resonance imaging in children with head trauma

PURPOSE To evaluate associations between retinal hemorrhage severity and hypoxic-ischemic brain injury (HII) patterns by diffusion-weighted magnetic resonance imaging (DW-MRI) in young children with head trauma. METHODS DW-MRI images of a consecutive cohort study of children under age 3 years with inflicted or accidental head trauma who had eye examinations were analyzed by two independent masked examiners for type, severity, and location of primary lesions attributable to trauma, HII secondary to trauma, and mixed injury patterns. Retinal hemorrhage was graded retrospectively on a scale from 1 (none) to 5 (severe). RESULTS Retinal hemorrhage score was 3-5 in 6 of 7 patients with predominantly post-traumatic HII pattern and 4 of 32 who had traumatic injury without HII (P < 0.001) on DW-MRI imaging. Severe retinal hemorrhage was observed in absence of HII but only in inflicted injury. Retinal hemorrhage severity was correlated with HII severity (ρ = 0.53, P < 0.001) but not traumatic injury severity (ρ = -0.10, P = 0.50). HII severity was associated with retinal hemorrhage score 3-5 (P = 0.01), but traumatic injury severity was not (P = 0.37). CONCLUSIONS During inflicted head injury, a distinct type of trauma occurs causing more global brain injury with HII and more severe retinal hemorrhages. HII is not a necessary factor for severe retinal hemorrhage to develop from inflicted trauma.

Radial epiphysitis (aka gymnast wrist).

PRESENTATION A 13-year-old girl, who was actively training in competitive gymnastics, presented to the orthopedist with several weeks of bilateral wrist pain. The pain worsened with gymnastic activity and was relieved with rest. There was no history of acute trauma to the wrists. The patient reported no additional symptoms. On physical examination, the patient was mildly tender over the right volar radial region and the dorsal radial regions bilaterally, at the level of the wrist. The range of motion of the wrists was normal.

Radiological detection of intraorbital wooden foreign bodies.

CASE This 9-year 8-month old boy presented to the emergency department (after being transferred from another facility) with a history of having fallen off his bicycle, face planting into a bush, resulting in orbital trauma, presenting with prominent left eye proptosis and pain. No definite history or physical examination suggesting the presence of foreign body was provided. Computed tomography of the orbits was performed at an outside hospital (Fig. 1). Before transfer, the patient was started on antibiotics and subsequently transferred to our emergency department for further ophthalmologic evaluation. Reinterpretation of the orbital CT (at our institution) confirmed left proptosis with preseptal swelling associated with preseptal and postseptal emphysema, areas of orbital fat stranding, and a linear lucency along the medial aspect of the left ocular globe, suspicious for foreign body (Fig. 1). Magnetic resonance imaging (MRI) was then performed (Fig. 2), which demonstrated similar findings, with a linear area of absence of signal on both T1and T2-weighted images in the intraconal medial aspect of the left globe, corresponding to the lucency seen on CT, again highly suggestive of a foreign body. The patient was taken to the operating room for examination under anesthesia and exploration of the left eye. Apart from the largest foreign body clearly seen on CT and MRI, 9 other pieces of wood of varying sizes (Fig. 3) were found and subsequently removed from the left orbit. The patient recovered well and was taken to surgery for correction of strabismus on a later date.

Missed opportunities in fatal child abuse.

From the *Department of Radiology and †Division of Neuroradiology, Department of Radiology at The Children’s Hospital of Philadelphia, Philadelphia, PA. Disclosure: The authors declare no conflict of interest. Reprints: Avrum N. Pollock, MD, FRCPC, Division of Neuroradiology, Department of Radiology at The Children’s Hospital of Philadelphia, Room 2115, Wood Building, 324 South 34th St, Philadelphia, PA 19104 (e-mail: pollocka@email.chop.edu). Copyright * 2013 by Lippincott Williams & Wilkins ISSN: 0749-5161 PRESENTATION A 3-month-old exYfull-term infant was transferred from an outside institution following cardiopulmonary arrest. Over the 3 weeks before admission, the parents report that the patient had upper respiratory symptoms, fever, irritability, and emesis. The patient was brought to an outside emergency department (ED) and to the primary care physician for a total of 9 times over the course of 22 days. On the final day of presentation, the father reported bilious emesis and lethargy. The patient was apneic upon arrival to the outside institution; cardiopulmonary resuscitation was initiated, and the patient was intubated.

Retropharyngeal abscess with extension toward the mediastinum.

From the Division of Neuroradiology, Department of Radiology, Children’s Hospital of Philadelphia, Philadelphia, PA. Disclosure: The authors declare no conflict of interest. Reprints: Avrum N. Pollock, MD, FRCPC, Division of Neuroradiology, Department of Radiology, Children’s Hospital of Philadelphia, Room 2115, Wood Bldg, 324 S 34th St, Philadelphia, PA 19104 (e<mail: pollocka@email.chop.edu). Copyright * 2013 by Lippincott Williams & Wilkins ISSN: 0749-5161

Intussusception: edematous ileocecal valve mimicking incomplete reduction.

RADIOLOGY FINDINGS An abdominal ultrasound reveals a characteristic target sign in the transverse plane (concentric rings formed by multiple layers of bowel wall) in the right lower quadrant compatible with an ileocolic intussusception (Fig. 1). The patient subsequently underwent single-contrast water-soluble reduction enema, which revealed an intraluminal filling defect (M) in the proximal ascending colon (Fig. 2A) compatible with an intussusceptum, which was successfully reduced by the contrast column to the level of the cecum, allowing reflux of contrast into the small bowel. However, a masslike filling defect (asterisk) persisted along the medial aspect of the cecum (Fig. 2B). A targeted ultrasound performed after the reduction enema confirmed successful reduction of the intussusception, with fluid seen traversing a thickened, edematous ileocecal valve (arrows; Fig. 3), which accounts for persistence of a