Pseudoclitoromegaly from acute T-cell lymphoblastic leukemia.

A 7-year-old girl presented with painful genital enlargement, which was first believed to be clitoromegaly of hormonal origin. However, on the physical exam the clitoris was not visible and the prepuce and labia minora were enlarged and tender. Magnetic resonance imaging demonstrated an infiltrative abnormal signal with restricted diffusion involving the enlarged clitoris and adjacent soft tissues of the prepuce and labia minora, confirming a nonhormonal infiltrative malignancy. The same abnormal signal was present in enlarged inguinal lymph nodes, the kidneys, and an anterior mediastinal mass. The pathologic diagnosis was T-cell acute lymphoblastic leukemia.

Refractory rhabdomyolysis responsive to corticosteroid therapy.

Rhabdomyolysis is a severe form of myopathy and a relatively common condition affecting the pediatric population. Early and aggressive intravenous volume expansion remains the mainstay of rhabdomyolysis treatment in both children and adults to minimize potential serious complications, including heme-induced acute kidney injury and metabolic abnormalities. We describe a 15-year-old boy with a previous hospital admission for rhabdomyolysis who presented with tea-colored urine, muscle cramps, and weakness with significant elevation of creatinine kinase (CK) following a viral illness. Due to minimal response to aggressive intravenous fluid therapy, intravenous methylprednisolone was administered, leading to a dramatic decrease in the CK level and improvement in his clinical symptoms. Genetic analysis revealed a mutation in the BIN1 gene diagnostic of congenital centronuclear myopathy.

Bacteremia in Early Infancy: Etiology and Management.

We reviewed the literature regarding bacteremia in early infancy (age ≤ 90 days). Bacteremia remains a major cause of morbidity and mortality in young infants. However, recent epidemiologic data suggest that the incidence of bacteremia is decreasing and the pathogens responsible for invasive disease are changing. These changes will impact the evaluation and management of young infants. We review the current epidemiology of community-acquired bacteremia in early infancy with particular emphasis on the causative agents, diagnostic evaluation, and empiric and definitive antimicrobial treatment.

Quantitation of cannabinoid CB1 receptors in healthy human brain using positron emission tomography and an inverse agonist radioligand.

[11C]MePPEP is a high affinity, CB1 receptor-selective, inverse agonist that has been studied in rodents and monkeys. We examined the ability of [11C]MePPEP to quantify CB1 receptors in human brain as distribution volume calculated with the "gold standard" method of compartmental modeling and compared results with the simple measure of brain uptake. A total of 17 healthy subjects participated in 26 positron emission tomography (PET) scans, with 8 having two PET scans to assess retest variability. After injection of [11C]MePPEP, brain uptake of radioactivity was high (e.g., 3.6 SUV in putamen at approximately 60 min) and washed out very slowly. A two-tissue compartment model yielded values of distribution volume (which is proportional to receptor density) that were both well identified (SE 5%) and stable between 60 and 210 min. The simple measure of brain uptake (average concentration of radioactivity between 40 and 80 min) had good retest variability ( approximately 8%) and moderate intersubject variability (16%, coefficient of variation). In contrast, distribution volume had two-fold greater retest variability ( approximately 15%) and, thus, less precision. In addition, distribution volume had three-fold greater intersubject variability ( approximately 52%). The decreased precision of distribution volume compared to brain uptake was likely due to the slow washout of radioactivity from brain and to noise in measurements of the low concentrations of [11C]MePPEP in plasma. These results suggest that brain uptake can be used for within subject studies (e.g., to measure receptor occupancy by medications) but that distribution volume remains the gold standard for accurate measurements between groups.

In vivo 13C magnetic resonance spectroscopy of human brain on a clinical 3 T scanner using [2-13C]glucose infusion and low-power stochastic decoupling.

This study presents the detection of [2-(13)C]glucose metabolism in the carboxylic/amide region in the human brain, and demonstrates that the cerebral metabolism of [2-(13)C]glucose can be studied in human subjects in the presence of severe hardware constraints of widely available 3 T clinical scanners and with low-power stochastic decoupling. In the carboxylic/amide region of human brain, the primary products of (13)C label incorporation from [2-(13)C]glucose into glutamate, glutamine, aspartate, gamma-aminobutyric acid, and N-acetylaspartate were detected. Unlike the commonly used alkanyl region where lipid signals spread over a broad frequency range, the carboxylic carbon signal of lipids was found to be confined to a narrow range centered at 172.5 ppm and present no spectral interference in the absence of lipid suppression. Comparison using phantoms shows that stochastic decoupling is far superior to the commonly used WALTZ sequence at very low decoupling power at 3 T. It was found that glutamine C1 and C5 can be decoupled using stochastic decoupling at 2.2 W, although glutamine protons span a frequency range of approximately 700 Hz. Detailed specific absorption rate analysis was also performed using finite difference time domain numerical simulation.

Decreased neurokinin-1 (substance P) receptor binding in patients with panic disorder: positron emission tomographic study with [18F]SPA-RQ.

BACKGROUND: Positron emission tomography (PET) can localize and quantify neurokinin-1 (NK(1)) receptors in brain using the nonpeptide antagonist radioligand, [(18)F]SPA-RQ. We sought to determine if patients with panic disorder have altered density of NK(1) receptors in brain because of their history of recurrent panic attacks. We also sought to determine if a drug-induced panic attack releases substance P in brain, as measured by decreased binding of [(18)F]SPA-RQ. METHODS: Positron emission tomography scans with [(18)F]SPA-RQ were performed in 14 patients with panic disorder and 14 healthy subjects. Of these two groups, 7 patients and 10 healthy subjects were scanned twice, once at baseline and once after injection of doxapram, a drug that induces panic attacks. RESULTS: NK(1) receptor binding in patients (n = 14) compared with that in healthy subjects (n = 14) was significantly decreased by 12% to 21% in all brain regions. Doxapram effectively produced panic attacks in 6 of 7 patients with panic disorder but only 2 of 10 healthy subjects. Doxapram caused no significant change of [(18)F]SPA-RQ binding in either patients or healthy subjects. CONCLUSIONS: Although induction of a panic attack has no significant effect on [(18)F]SPA-RQ binding to NK(1) receptors, patients with panic disorder have widespread reduction of NK(1) receptor binding in brain.

Kinetic analysis in healthy humans of a novel positron emission tomography radioligand to image the peripheral benzodiazepine receptor, a potential biomarker for inflammation.

The peripheral benzodiazepine receptor (PBR) is upregulated on activated microglia and macrophages and thereby is a useful biomarker of inflammation. We developed a novel PET radioligand, [(11)C]PBR28, that was able to image and quantify PBRs in healthy monkeys and in a rat model of stroke. The objective of this study was to evaluate the ability of [(11)C]PBR28 to quantify PBRs in brain of healthy human subjects. Twelve subjects had PET scans of 120 to 180 min duration as well as serial sampling of arterial plasma to measure the concentration of unchanged parent radioligand. One- and two-tissue compartmental analyses were performed. To obtain stable estimates of distribution volume, which is a summation of B(max)/K(D) and nondisplaceable activity, 90 min of brain imaging was required. Distribution volumes in human were only approximately 5% of those in monkey. This comparatively low amount of receptor binding required a two-rather than a one-compartment model, suggesting that nonspecific binding was a sizeable percentage compared to specific binding. The time-activity curves in two of the twelve subjects appeared as if they had no PBR binding-i.e., rapid peak of uptake and fast washout from brain. The cause(s) of these unusual findings are unknown, but both subjects were also found to lack binding to PBRs in peripheral organs such as lung and kidney. In conclusion, with the exception of those subjects who appeared to have no PBR binding, [(11)C]PBR28 is a promising ligand to quantify PBRs and localize inflammation associated with increased densities of PBRs.