Predominant Liver Cystic Disease in a New Heterozygotic PKHD1 Variant: A Case Report.

BACKGROUND The polycystic kidney and hepatic disease 1 (PKHD1) gene codes for fibrocystin-polyductin, a protein that takes part in cell-signaling for cell differentiation, especially in kidney tubules and bile ducts. A homozygous or compound heterozygous defect in this gene can cause autosomal recessive polycystic kidney disease (ARPKD). Polycystic liver disease (PCLD) can also be caused by single heterozygous variants in the PKHD1 gene. ARPKD presents with renal insufficiency and cystic dilatation of bile ducts, although disease is not expected with a single heterozygous mutation. PCLD presents with multiple cysts in the liver and dilated bile ducts as well, but with less of an impact on the kidneys than with ARPKD. Our purpose in publishing this report is to introduce an as-yet unknown variant to the body of genetic defects associated with ARPKD and PCLD, as well as to argue for the likely pathogenicity of the variant according to the prevailing criteria used for classifying gene variants. CASE REPORT We present a patient with a de novo PKHD1 variant currently classified as a variant of unknown significance manifesting with bilaterally enlarged cystic kidneys and echogenic cystic structures in the hepatic portal system, indicative of cystic disease. CONCLUSIONS Given this patient's liver and kidney presentation that does not fully align with either ARPKD or PCLD, the authors believe that the single heterozygous variant in this patient's PKHD1 gene is worthy of reporting. This new single heterozygous variant in PKHD1 gene causing cystic kidney and cystic hepatic disease in the patient should be considered 'likely pathogenic' according to the criteria set by the American College of Medical Genetics.

Transpubic variant of congenital prepubic sinus on magnetic resonance imaging.

Congenital prepubic sinus is a very rare urogenital anomaly that manifests as a tubular structure of varying histological findings that drains to the skin overlying the pubic symphysis. This tract has been observed to course above, below or, in only a handful of cases, directly through the pubis. We report a case of congenital prepubic sinus with this unusual transpubic course in an 18-year-old man. The patient was initially taken to the operating room for excision of a presumed inclusion cyst. At the time of surgery, the collection was found to track proximally and was excised down to the level of the pubic symphysis. Subsequent magnetic resonance (MR) imaging established the diagnosis of congenital prepubic sinus. We describe the different anatomical courses of congenital prepubic sinus, hypotheses of its pathogenesis, and the use of MR imaging in both diagnosis and surgical planning.

Occipital mass in antenatal sonography.

Biophysical profile (BPP) with ultrasound performed for a 32-year-old G5P3013 admitted at 31 weeks gestation with preterm, premature rupture of membranes (PPROM) noted an extracalvarial mass concerning for an encephalocele. Fetal MRI demonstrated edema over the occiput with no definable lesion visualized. Preterm labor requiring Cesarean delivery resulted in a live male neonate at 33 weeks gestation. An occipital mass was observed on neonatal physical exam. Postnatal ultrasound and MRI were consistent with cephalohematoma. This was surprising given the lack of vaginal delivery. We hypothesize that the occiput was positioned against the maternal ischial tuberosity and developed chronic trauma secondary to normal fetal movement over time, resulting in a cephalohematoma. Postnatal imaging confirmed this diagnosis as the mass gradually decreased and ultimately resolved. Although other etiologies are possible, this case emphasizes the need to consider cephalohematoma in the differential of CNS masses during pregnancy without abdominal trauma and/or vaginal delivery.

Another Case of Multilevel Cervical Disconnection Syndrome Presenting as Neonatal Encephalopathy.

Multilevel cervical disconnection syndrome (MCDS) is a rare malformation of the cervical spine previously documented in two toddlers. We present a case of a newborn first thought to have hypoxic-ischemic encephalopathy who was subsequently diagnosed with MCDS. The possibility of in utero presentation of the syndrome in this patient and the categorization of this syndrome in the spectrum of basilar skull/upper cervical malformation syndromes is discussed.

Newborn with a depression to her skull.

A 9 week-old female, born via normal spontaneous vaginal delivery at 40 weeks, presented to the emergency department for a depression to her left skull, first noticed 3 three weeks prior. Ping Pong Fractures should be recognized and appropriately treated by an emergency physician.

Pulmonary Systemic Lupus Erythematosus Mimicking a Pneumonia in a Postpartum Female.

The pulmonary manifestations of systemic lupus erythematosus can range in severity from mild to life threatening and can be particularly marked in women who are recently postpartum. We present below a seventeen-year-old female patient, one month postpartum, who had findings consistent with an acute infectious pneumonia whom upon further query and passage of time was diagnosed with severe pneumonitis due to systemic lupus erythematosus.

Incidental Findings on Pediatric Abdominal Computed Tomography At A Pediatric Trauma Center.

BACKGROUND: The increasing availability and use of computed tomography (CT) in pediatric abdominal trauma has increased the detection of incidental findings. While some of these findings are benign, others may require further evaluation for possible clinical importance. OBJECTIVES: This study aimed to identify the frequency and type of incidental findings and their need for follow-up on abdominal CT in patients at a pediatric trauma center. METHODS: This was a retrospective, observational study on trauma patients ≤21 years of age who presented to the emergency department between January 1, 2004 and July 31, 2016 and underwent CT scans of the abdomen and pelvis. Findings were classified as benign anatomic variants, benign pathologic lesions, and pathologic lesions requiring additional work-up. RESULTS: There were 1073 patients included in the study population, with a mean age of 15.5 years; 707 (66%) were males. A total of 418 incidental findings were identified in 345 patients. Of these, 290 (69%) were benign and 60 (14%) were likely benign pathologic that required possible outpatient monitoring. Of those requiring additional evaluation, 5 (1%) patients warranted further evaluation before discharge. CONCLUSIONS: Nearly one-third of patients had at least one radiographic finding unrelated to their injury. Of these, more than two-thirds did not require additional evaluation, but nearly one-third of patients required some form of further work-up.

Rare association of progressive congenital extrahepatic portosystemic shunt with development of multifocal hepatocellular carcinoma.

The association between the Abernethy malformation, a rare vascular anomaly in which the portal blood is diverted into the systemic circulation, and development of hepatic tumours is well established. We present a case of multifocal hepatocellular carcinoma (HCC) in the presence of extrahepatic portosystemic shunt with a diminutive portal vein (Type 2 Abernethy malformation). Abdominal ultrasound performed on a 72-year-old female presenting with elevated liver function tests found a 5.6 cm right hepatic lobe mass. Subsequent CT and MRI examinations demonstrated multifocal lesions. A diminutive portal vein was present (transverse diameter of 7 mm) with a large tortuous complex shunt (maximum transverse diameter 2.0 cm) arising at the portal vein bifurcation with branches connecting to the left renal vein and inferior vena cava. Review of a CT examination performed 10 years ago demonstrated a normal-sized portal vein (transverse diameter of 1.5 cm) with a smaller calibre portosystemic shunt (maximum transverse diameter 9 mm). To our knowledge, this is one of the first reports to demonstrate the evolution of progressive portosystemic shunting and the development of HCC.

Childhood asymmetrical labium majus enlargement sonographic and MR imaging appearances.

BACKGROUND: Childhood asymmetrical labium majus enlargement (CALME) has been described sparsely in recent surgery, pathology, pediatric and gynecology literature; however, no comprehensive description from a radiology perspective has been developed. OBJECTIVE: The purpose of this case series is to describe the imaging findings of CALME and to review the current understanding of this recently described clinical entity with regard to clinical presentation, pathophysiology, differential diagnosis and treatment options. MATERIALS AND METHODS: This is a retrospective analysis of 3 girls, ages 5-7 years, who presented for imaging evaluation with subsequent pathologically proven CALME. Each child's clinical history, length of symptoms, imaging appearance and pathological findings were reviewed. RESULTS: All three girls presented with unilateral enlargement of the labium majus (two right-side, one left-side) with no history of trauma or other inciting cause. Two girls had painless labial enlargement that was recognized for weeks, and one had similar symptoms for 1 year prior to presentation. One girl was evaluated initially with sonography, and all three children underwent MR imaging. Sonographic evaluation showed asymmetrical labial enlargement without a definable mass. In each girl, the MR imaging findings were characterized by relatively ill-defined T1-weighted hypointense signal, T2-weighted hypo- to isointense signal with interspersed hyperintense septae, and heterogeneous patchy and feathery strands of enhancement on post-contrast imaging. Biopsy from each child showed benign fibrous tissue with intervening mature fibroadipose tissue, vessels and nerves without findings of inflammation or neoplasia. CONCLUSION: The MR imaging appearance of CALME is consistent. Recognition and appreciation of this unique pediatric entity by the radiologist may be essential for appropriate diagnosis and can help to guide therapy. Current preferred treatment approach is conservative.

Wilson-Cowan Equations for Neocortical Dynamics.

In 1972-1973 Wilson and Cowan introduced a mathematical model of the population dynamics of synaptically coupled excitatory and inhibitory neurons in the neocortex. The model dealt only with the mean numbers of activated and quiescent excitatory and inhibitory neurons, and said nothing about fluctuations and correlations of such activity. However, in 1997 Ohira and Cowan, and then in 2007-2009 Buice and Cowan introduced Markov models of such activity that included fluctuation and correlation effects. Here we show how both models can be used to provide a quantitative account of the population dynamics of neocortical activity.We first describe how the Markov models account for many recent measurements of the resting or spontaneous activity of the neocortex. In particular we show that the power spectrum of large-scale neocortical activity has a Brownian motion baseline, and that the statistical structure of the random bursts of spiking activity found near the resting state indicates that such a state can be represented as a percolation process on a random graph, called directed percolation.Other data indicate that resting cortex exhibits pair correlations between neighboring populations of cells, the amplitudes of which decay slowly with distance, whereas stimulated cortex exhibits pair correlations which decay rapidly with distance. Here we show how the Markov model can account for the behavior of the pair correlations.Finally we show how the 1972-1973 Wilson-Cowan equations can account for recent data which indicates that there are at least two distinct modes of cortical responses to stimuli. In mode 1 a low intensity stimulus triggers a wave that propagates at a velocity of about 0.3 m/s, with an amplitude that decays exponentially. In mode 2 a high intensity stimulus triggers a larger response that remains local and does not propagate to neighboring regions.

Modeling focal epileptic activity in the Wilson-cowan model with depolarization block.

UNLABELLED: Measurements of neuronal signals during human seizure activity and evoked epileptic activity in experimental models suggest that, in these pathological states, the individual nerve cells experience an activity driven depolarization block, i.e. they saturate. We examined the effect of such a saturation in the Wilson-Cowan formalism by adapting the nonlinear activation function; we substituted the commonly applied sigmoid for a Gaussian function. We discuss experimental recordings during a seizure that support this substitution. Next we perform a bifurcation analysis on the Wilson-Cowan model with a Gaussian activation function. The main effect is an additional stable equilibrium with high excitatory and low inhibitory activity. Analysis of coupled local networks then shows that such high activity can stay localized or spread. Specifically, in a spatial continuum we show a wavefront with inhibition leading followed by excitatory activity. We relate our model simulations to observations of spreading activity during seizures. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s13408-015-0019-4) contains supplementary material 1.

More than just Langerhans cell histiocytosis: a radiologic review of histiocytic disorders.

Although Langerhans cell histiocytosis (LCH) is a familiar entity to most radiologists and to pediatric radiologists in particular, it is but one of a group of disorders caused by the overproduction of histiocytes, a subtype of white blood cells. Other less familiar diseases in this category are Erdheim-Chester disease (ECD), juvenile xanthogranuloma (JXG), Rosai-Dorfman disease (RDD), and hemophagocytic lymphohistiocytosis (HLH). This review describes the classification system, clinical manifestations, and pathophysiology of each disease, with particular attention to differential radiographic findings, including typical locations of involvement and varying appearances at radiography, computed tomography, magnetic resonance imaging, ultrasonography, and nuclear medicine imaging. Although LCH has a wide variety of manifestations and appearances, classic imaging findings include vertebra plana, skull lesions with a beveled edge, the "floating tooth" sign, bizarre lung cysts, and an absent posterior pituitary bright spot with infundibular thickening. The classic imaging findings of ECD are a perirenal rind of soft tissue and patchy long bone osteosclerosis. RDD has more nonspecific imaging findings, including lymphadenopathy (most commonly cervical) and intracranial lesions. Imaging findings in HLH are broad, with the most common abnormalities being hepatosplenomegaly, cerebral volume loss, and periventricular white matter abnormalities. JXG can manifest at imaging, but radiology does not play a major role in diagnosis. Familiarity with these disorders and their associated imaging findings facilitates correct and timely diagnosis. Imaging also features prominently in the assessment of treatment response.

Intranasal foreign body mimicking a fat-containing lesion.

We present a 21-month-old child with a foreign body (an intranasal almond) measuring fat attenuation on CT. To the best of our knowledge, this appearance has not been previously described and can be confused with other diagnoses resulting in inappropriate or delayed treatment.