John R. Mernagh

Positron emission tomography in the investigation of pediatric inflammatory bowel disease

Background: Endoscopic and radiologic studies are frequently required in inflammatory bowel disease (IBD) to determine disease activity, extent of disease, and delineating disease type. Positron emission tomography (PET) using fluorine‐18‐fluoro‐deoxyglucose to identify metabolically active tissues may offer a simple noninvasive alternative to conventional studies in identification and localization of active intestinal inflammation in children with IBD. The aim of this study was to assess the value of PET in identifying active intestinal inflammation compared with conventional endoscopic and radiologic studies, including small bowel follow‐through and colonoscopy. Methods: Sixty‐five children were enrolled in the study. This included 55 children (mean age, 13.3 yr; range, 7‐18 yr; 20 girls) with newly diagnosed IBD (37) or symptoms suggestive of recurrent disease (18) and 10 children with recurrent abdominal pain (mean age, 12.7 yr; range, 8‐15 yr; 7 girls) who were studied with PET, and the results were compared with small bowel follow‐through with pneumocolon and/or colonoscopy. Thirty‐eight patients had Crohns disease (17 ileal, 12 ileocolic, 5 pancolonic, 3 left‐sided disease, 1 right‐sided disease), and 17 had ulcerative colitis (15 pan‐colitis, 2 left‐sided colitis). Mean time interval between PET and other studies was 30 ± 17.6 days. Results: PET correctly identified active inflammatory disease in 80% of children with IBD (81.5% with Crohns disease; 76.4% with ulcerative colitis) and correctly showed no evidence of inflammation in children with recurrent abdominal pain. Gluorine‐18‐fluoro‐deoxyglucose accumulated at sites that corresponded with active disease at colonoscopy in 83.8% of patients and with small bowel follow‐through with pneumocolon 75.0% of the time. Conclusion: This study suggests that PET offers a noninvasive tool for identifying and localizing active intestinal inflammation in children with IBD. PET may not be able to replace conventional studies; however, it may be useful when conventional studies cannot be performed or fail to be completed.

Antenatal and postnatal findings in encephalocraniocutaneous lipomatosis

Encephalocraniocutaneous lipomatosis (ECCL) is a congenital neurocutaneous syndrome that comprises unilateral porencephalic cysts with cortical atrophy; ipsilateral hamartomas of scalp, eyelid, and outer part of the eye; lipomas of the central nervous system (CNS); cranial asymmetry; and characteristic cutaneous lesions. We report on the antenatal and postnatal sonographic and radiologic, and on the postnatal pathologic findings of an infant diagnosed with ECCL at birth. The antenatal sonogram at 28 weeks of gestation showed normal intracranial structures; the sonogram at 38 weeks of gestation showed asymmetry of the cerebral hemispheres and ventriculomegaly. Magnetic resonance imaging at age 6 weeks demonstrated a porencephalic cyst on the left, hemiatrophy of the left cerebrum with cortical dystrophy, and a lipoma in the middle cranial fossa. Histologic findings of the resected cutaneous lesion confirmed the presence of fibrolipoma hamartoma. This case offers a unique insight into the antenatal and postnatal development of the hamartoneoplastic lesions of ECCL, and it highlights the difficulties inherent in the antenatal sonographic diagnosis of hamartoneoplastic syndromes.

Prenatal sonographic diagnosis of hypochondroplasia in a high‐risk fetus

Hypochondroplasia (HCH) is caused by mutations in the fibroblast growth factor receptor type 3 (FGFR 3). Prenatal diagnosis of HCH based exclusively on the sonographic measurements of the fetal skeleton is difficult and has not been reported. We describe a newborn infant with HCH who was born to a mother with achondroplasia (ACH) and a father with HCH. Serial sonographic measurements were recorded from 16 weeks of gestation. All measurements remained normal up to 22 weeks of gestation. At 25 weeks of gestation, the long bones began to appear shorter than expected for gestational age, while the head measurements (biparietal diameter and head circumference) remained normal. The measurements were sufficiently different to distinguish from findings in normal and achondroplastic fetuses. Our findings suggest that it is possible to distinguish the normal fetus from a fetus affected with HCH and to distinguish HCH and ACH from each other based on the sonographic measurements alone. To our knowledge, this is the first report of longitudinal sonographic measurements of HCH in the second and third trimesters.

Novel craniofacial and extracraniofacial findings in a case of Treacher Collins syndrome with a pathogenic mutation and a missense variant in the TCOF1 gene.

List of key featuresProminent foreheadGeneral anomalies of external earsMiddle earInner earMicrophthalmiaIris colobomaRetinal colobomaAbnormal eyebrowsAbnormal eyelashesBroad noseLarge noseSmall faceFacial cleftMicrognathiaMicropenisCryptorchid testesHypoplastic scrotumSummaryWe report a case of Tre

Ultrasound of the carotid arteries: a pictorial review.

Stroke secondary to atherosclerotic disease remains one of the leading causes of death. Ischemia from severe, flow limiting stenosis due to atherosclerotic disease involving the extracranial carotid arteries is implicated in approximately 20-30% of strokes. An estimated 80% of strokes are thromboembolic in origin, often with carotid plaque as the embolic source, usually involving the internal carotid artery within 2 cm of the carotid bifurcation. Carotid endarterectomy has been proven to be more beneficial than medical therapy in symptomatic patients with greater than 70% stenosis. Accurate diagnosis of hemodynamically significant stenosis is therefore critical in identifying those patients who would benefit from the surgery. In this paper we present a pictorial review of the use of ultrasound in the examination of the carotid arteries.

INCIDENCE AND DIAGNOSIS OF NEONATAL THROMBOSIS ASSOCIATED WITH UMBILICAL VENOUS CATHETERS † 1025

Background: The incidence of thrombosis associated with an indwelling umbilical venous catheter (UVC) in unselected newborn infants is uncertain. Although real-time and doppler flow echocardiography is commonly used to detect such thrombi, the diagnostic accuracy of this technique has never been validated against a gold standard test.