Parasagittal vertex clots on head CT in infants with subdural hemorrhage as a predictor for abusive head trauma.

BACKGROUND: Abusive head trauma (AHT) is the most common cause of subdural hemorrhage (SDH) in infants younger than 12 months old. Clot formation in the parasagittal vertex seen on imaging has been associated with SDH due to AHT. There have been very few studies regarding these findings; to our knowledge, no studies including controls have been performed. OBJECTIVE: To describe parasagittal vertex clots on head computed tomography (CT) in infants with SDH and AHT compared to patients with SDH and accidental trauma, and to evaluate for parasagittal vertex clots in the absence of SDH in the setting of known accidental head trauma. MATERIALS AND METHODS: All infants younger than 12 months old with SDH present on CT scan were retrospectively identified from 2004 to 2014. Blinded, independent review of all CT scans for clot formation at the parasagittal vertex was performed by a pediatric neuroradiologist. RESULTS: Ninety-nine patients were eligible for analysis. Mean age was 4 months. Fifty-seven (57.6%) were male. Fifty-five (55.6%) patients were identified as having AHT and 22 (22.2%) had accidental trauma. Forty-five (81.2%) patients with AHT had parasagittal vertex clots present on CT scan compared to 8 (36.4%) patients with accidental trauma. Compared to patients without parasagittal vertex clots, those with parasagittal vertex clots were more likely to have AHT (66.2% vs. 32.3%, P=0.001), no known mechanism of injury (69.1% vs. 32.3%, P=0.015), retinal hemorrhage (75% vs. 35.5%, P=0.002) and hypoxic-ischemic changes (25% vs. 0%, P=0.002). Patients with parasagittal vertex clots have eight times the odds of AHT compared to patients without parasagittal vertex clots. Age-matched control patients who underwent head CT scan due to a history of accidental head injury without SDH were identified (n=87); no patient in the control group had parasagittal vertex clots. CONCLUSION: The finding of parasagittal vertex clots on CT scans should raise suspicion for abuse and prompt further investigation, especially in the setting of no known, uncertain or inconsistent mechanism of injury.

Cranial Rhabdomyosarcoma Masquerading as Infectious Mastoiditis: Case Report and Literature Review.

BACKGROUND: Rhabdomyosarcoma originating in the mastoid is rare and may be misdiagnosed as an infectious mastoiditis due to overlapping clinical and imaging features. We aimed to identify distinguishing characteristics to facilitate earlier diagnosis and treatment. METHOD: Here we describe a case report and a systematic review of 23 reports describing previous cases of mastoid rhabdomyosarcoma. We compare these patients to a systematic review of patients with infectious mastoiditis and identify distinguishing clinical features. RESULTS: A total of 43 patients with rhabdomyosarcoma of the mastoid were identified and compared with patients with mastoiditis. Rhabdomyosarcoma patients were more likely to present with a mass (86%) or cranial nerve dysfunction (83.7%), while mastoiditis patients were more likely to have fever (72.4%), pain (48.2%), and present at a younger age (4.4 vs. 6.1 years). The average lifespan with rhabdomyosarcoma of the mastoid was 7.1 months after diagnosis, with 41.7% of patients alive at the time of report. CONCLUSIONS: Based on abstracted and aggregated information, we identified unique features observed more frequently in each of rhabdomyosarcoma and mastoiditis. These predictive features allow for the differentiation of each diagnosis and avoid the delay of proper treatment.

Neuroradiographic findings in 22q11.2 deletion syndrome.

22q11.2 deletion syndrome (22q11.2DS) is a common genetic disorder with enormous phenotypic heterogeneity. Despite the established prevalence of developmental and neuropsychiatric issues in this syndrome, its neuroanatomical correlates are not as well understood. A retrospective chart review was performed on 111 patients diagnosed with 22q11.2DS. Of the 111 patients, 24 with genetically confirmed 22q11.2 deletion and brain MRI or MRA were included in this study. The most common indications for imaging were unexplained developmental delay (6/24), seizures of unknown etiology (5/24), and unilateral weakness (3/24). More than half (13/24) of the patients had significant radiographic findings, including persistent cavum septi pellucidi and/or cavum vergae (8/24), aberrant cortical veins (6/24), polymicrogyria or cortical dysplasia (4/24), inner ear deformities (3/24), hypoplastic internal carotid artery (2/24), and hypoplastic cerebellum (1/24). These findings reveal the types and frequencies of brain malformations in this case series, and suggest that the prevalence of neuroanatomical abnormalities in 22q11.2DS may be underestimated. Understanding indications for imaging and frequently encountered brain malformations will result in early diagnosis and intervention in an effort to optimize patient outcomes.

Ovarian Torsion in Pediatric Patients: A Review of Eleven Years' Experience.

Objectives. To examine associated clinical features and evaluate published criteria regarding volumetric diagnosis of ovarian torsion (OT). Methods. Retrospective case-control study of patients presenting to an emergency department who underwent pelvic imaging for acute abdominal or pelvic pain. Cases were found to have OT at surgery. Controls received clinical diagnosis of either acute pelvic pain or ovarian cyst. Results. The sensitivity for OT using a cutoff AV of <20 mL was 50% (95% confidence interval [CI] = 35% to 65%); specificity was 29% (95% CI = 15% to 43%). The sensitivity for OT using a cutoff AV of >75 mL was 18% (95% CI = 7% to 30%); specificity was 93% (95% CI = 85% to 100%). The ratio of affected-side to unaffected-side AV of >15 had a sensitivity of 16% (95% CI = 5% to 27%); specificity was 98% (95% CI = 93% to 100%). Conclusions. The published criteria regarding the volumetric diagnosis of OT were inadequately sensitive for detecting OT. However, an affected-side AV >75 mL and an AV ratio >15 were reasonably specific.

Convalescence disguising disease progression in neonatal herpes encephalitis.

Herpes encephalitis in neonates or young infants entails significant risk of mortality or morbidity. Prompt and aggressive treatment may lessen the chronic toll of herpes encephalitis. Unfortunately, an apparent uneventful recovery from herpes encephalitis may disguise evolving cerebral devastation. The discordance between evolving cerebral injury revealed by imaging and a patient's clinical improvement is illustrated by two patients, treated a decade apart.

Removal of FKBP12 enhances mTOR-Raptor interactions, LTP, memory, and perseverative/repetitive behavior.

FK506-binding protein 12 (FKBP12) binds the immunosuppressant drugs FK506 and rapamycin and regulates several signaling pathways, including mammalian target of rapamycin (mTOR) signaling. We determined whether the brain-specific disruption of the FKBP12 gene in mice altered mTOR signaling, synaptic plasticity, and memory. Biochemically, the FKBP12-deficient mice displayed increases in basal mTOR phosphorylation, mTOR-Raptor interactions, and p70 S6 kinase (S6K) phosphorylation. Electrophysiological experiments revealed that FKBP12 deficiency was associated with an enhancement in long-lasting hippocampal long-term potentiation (LTP). The LTP enhancement was resistant to rapamycin, but not anisomycin, suggesting that altered translation control is involved in the enhanced synaptic plasticity. Behaviorally, FKBP12 conditional knockout (cKO) mice displayed enhanced contextual fear memory and autistic/obsessive-compulsive-like perseveration in several assays including the water maze, Y-maze reversal task, and the novel object recognition test. Our results indicate that FKBP12 plays a critical role in the regulation of mTOR-Raptor interactions, LTP, memory, and perseverative behaviors.

Siblings with leukoencephalopathy.

Two consanguineous siblings presented with developmental regression and emerging spasticity. Cranial magnetic resonance imaging in both showed diffuse leukoencephalopathy. Further investigation established the siblings as having complex 1 deficiency consequent to a novel homozygous mutation in NDUFV1, a nuclear-encoded subunit of complex 1. Diffuse leukoencephalopathy may be a presentation of complex 1 deficiency.

Acquired obstructive hydrocephalus in globoid-cell leukodystrophy.

Acquired obstructive hydrocephalus has developed rarely in patients with globoid cell leukodystrophy. This report describes a 21-month-old female with this concurrence.

The Down syndrome critical region protein RCAN1 regulates long-term potentiation and memory via inhibition of phosphatase signaling.

Regulator of calcineurin 1 (RCAN1/MCIP1/DSCR1) regulates the calmodulin-dependent phosphatase calcineurin. Because it is located on human chromosome 21, RCAN1 has been postulated to contribute to mental retardation in Down syndrome and has been reported to be associated with neuronal degeneration in Alzheimer's disease. The studies herein are the first to assess the role of RCAN1 in memory and synaptic plasticity by examining the behavioral and electrophysiological properties of RCAN1 knock-out mice. These mice exhibit deficits in spatial learning and memory, reduced associative cued memory, and impaired late-phase long-term potentiation (L-LTP), phenotypes similar to those of transgenic mice with increased calcineurin activity. Consistent with this, the RCAN1 knock-out mice display increased enzymatic calcineurin activity, increased abundance of a cleaved calcineurin fragment, and decreased phosphorylation of the calcineurin substrate dopamine and cAMP-regulated phosphoprotein-32. We propose a model in which RCAN1 plays a positive role in L-LTP and memory by constraining phosphatase signaling.