Issue 12/2014
Content (50 Articles)
Food protein-induced enterocolitis syndrome to trivial oral mucosal contact
Shikha K. Mane, Margaret E. Hollister, Sami L. Bahna
Bitter lupine beans ingestion in a child: a disregarded cause of acute anticholinergic toxicity
Marco Daverio, Maria Elena Cavicchiolo, Paolo Grotto, Davide Lonati, Mara Cananzi, Liviana Da Dalt
Different course of lung disease in two siblings with novel ABCA3 mutations
Maarja Hallik, Tarmo Annilo, Mari-Liis Ilmoja
Successful remission induced by plasma exchange combined with leukocytapheresis against refractory systemic juvenile idiopathic arthritis
Akinori Miyazono, Jun Abe, Masao Ogura, Mai Sato, Takuya Fujimaru, Koichi Kamei, Shuichi Ito
Celiac crisis presenting with status epilepticus and encephalopathy
Nadia M. Hijaz, Julia M. Bracken, Sonal R. Chandratre
Primary hypothyroidism: an unusual manifestation of Wolcott–Rallison syndrome
Betül Ersoy, Bayram Özhan, Seniha Kiremitçi, Oscar Rubio-Cabezas, Sian Ellard
Isolated hepatobiliary cryptococcosis manifesting as obstructive jaundice in an immunocompetent child: case report and review of the literature
Chi Zhang, Lei Du, Wei Cai, Yeming Wu, Fan Lv
Extracorporeal life support for a 5-week-old infant with idiopathic pulmonary hemosiderosis
Sherrill Gutierrez, Susanna Shaw, Shehlanoor Huseni, Shagun Sachdeva, John P. Costello, Sonali Basu, Dilip S. Nath, Darren Klugman
Persistent multifocal atrial tachycardia in infant with encephalocraniocutaneous lipomatosis: a case report
Katarzyna Pregowska, Elzbieta Jurkiewicz, Maria Miszczak-Knecht, Anna Turska-Kmiec, Katarzyna Bieganowska
False negative newborn screen and neonatal cholestasis in a premature child with cystic fibrosis
J. F. Heidendael, M. M. Tabbers, I. De Vreede
Ketotifen-induced nocturnal bruxism
Domenico Italiano, Placido Bramanti, David Militi, Stefania Mondello, Rocco Salvatore Calabro
Bubbles in the heart as first sign of gastric pneumatosis
Béatrice Müller, Nikolai Stahr, Walter Knirsch, Irene Hoigné, Bernhard Frey
Severe infantile Bordetella pertussis pneumonia in monozygotic twins with a congenital C3 deficiency
Roel A. J. Kurvers, Dineke Westra, Arno F. van Heijst, Twiggy L. M. Walk, Adilia Warris, Nicole C. A. J. van de Kar
Association of trisomy 18 with hepatoblastoma and its implications
Zhen Han Tan, Angeline Lai, Ching Kit Chen, Kenneth T. E. Chang, Ah Moy Tan
Neonatal limb ischemia: caudal blockade and NIRS monitoring
Fiammetta Piersigilli, Iliana Bersani, Paola Giliberti, Maria Paola Ronchetti, Raul Laviani Mancinelli, Ilaria Cavadenti, Andrea Dotta
Deep peroneal nerve palsy during growth spurt: a case report
Kyriacos I. Eleftheriou, Sushil Beri, Afshin Alavi, Sally Tennant
An unusual cause of fetal hypomobility:congenital central hypoventilation syndrome associated with hirschsprung disease
Sybille De Montpellier, Yves Sznajer, Jeanne Amiel, Genevieve Francois, Marie-Cecile Nassogne, Christian Debauche, Isabelle Scheers
A rare cause of short stature: transsphenoidal encephalocele
Özhan Bayram, Ağladıoğlu Yılmaz Sebahat, Ağladıoğlu Kadir, Koçyiğit Ali
The emergence of CD20−/CD19− tumor cells after rituximab therapy for Epstein–Barr virus-associated post-transplant lymphoproliferative disorder complicated with hemophagocytic lymphohistiocytosis
Nobuyuki Yamamoto, Noriyuki Nishimura, Mai Takeuchi, Tomoo Ito, Hiroshi Yokozaki, Satoshi Hirase, Ikuko Kubokawa, Takeshi Mori, Tomoko Yanai, Akira Hayakawa, Yasuhiro Takeshima, Hisahide Nishio, Masafumi Matsuo, Ken-Ichi Imadome, Kazumoto Iijima
Superior mesenteric artery syndrome in a 15-year-old boy during Ramadan
M. E. C. Bakker, R. van Delft, N. A. L. Vaessens, P. R. R. Rosias
Anuria in a solitary kidney with Candida bezoars managed conservatively
Jaap V. Schilperoort, Liesbeth L. de Wall, Henricus J. R. van der Horst, Joanna A. E. van Wijk, Jonathan I. M. L. Verbeke, Arend Bokenkamp
Premature ovarian failure due to tetrasomy X in an adolescent girl
Cengiz Kara, Ala Üstyol, Ayşegül Yılmaz, Engin Altundağ, Gönül Oğur
Life-threatening QT prolongation in a boy with attention-deficit/hyperactivity disorder on atomoxetine
Hiroshi Yamaguchi, Kiyoshi Nagumo, Taiji Nakashima, Yoshikazu Kinugawa, Satoru Kumaki
Early treatment of a child with NAGS deficiency using N-carbamyl glutamate results in a normal neurological outcome
Anouk Van Leynseele, Anna Jansen, Philippe Goyens, Geert Martens, Stefaan Peeters, An Jonckheere, Linda De Meirleir
Neuroleptic malignant syndrome in an adolescent with CYP2D6 deficiency
Agnieszka Butwicka, Szymańska Krystyna, Włodzimierz Retka, Tomasz Wolańczyk
Transient leukemia in a newborn without Down syndrome: case report and review of the literature
Laurence Rozen, Sophie Huybrechts, Laurence Dedeken, Catherine Heijmans, Barbara Dessars, Pierre Heimann, Frédéric Lambert, Denis F. Noubouossie, Alina Ferster, Anne Demulder
Persistent eyelid swelling in a child: lest myiasis be forgot
Eda Karadag-Oncel, Ali Bulent Cengiz, Buse Ozer-Bekmez
Vasopressin as an adjunct therapy for pulmonary hypertension: a case report
Andra Malikiwi, Arun Sasi, Kenneth Tan, Arvind Sehgal
An unusual case of transient neonatal pustular melanosis: a diagnostic puzzle
Valeria Brazzelli, Vincenzo Grasso, Giorgio Croci, Tiziana Figar, Giovanni Borroni
Infant deaths in slings
Chrystèle Madre, Caroline Rambaud, David Avran, Charlotte Michot, Philippe Sachs, Stéphane Dauger
Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report
Mohammad Taghi Akbari, Shohreh Zare Karizi, Reza Mirfakhraie, Bijan Keikhaei
Diffuse lung metastases in a child with blastic plasmacytoid dendritic cell neoplasm and review
Xiao-dan Zhong, Li-zhe Wang, Xiao Wang, Jian Chang
Congenital lobar emphysema causing discrepancy between size and symptoms of ventricular septal defect
Anna M. E. Noten, Lukas A. Rammeloo, Eric G. Haarman, Irene M. Kuipers, Jaroslav Hruda
Cayler cardiofacial syndrome with situs inversus totalis
Birendra Rai, Debkrishna Mallick, Rajoo Thapa, Biswajit Biswas
Clinical and molecular characteristics of two transaldolase-deficient patients
Anna Tylki-Szymanska, Mirjam M. C. Wamelink, Teresa J. Stradomska, Gajja S. Salomons, Joanna Taybert, Nel Dąbrowska-Leonik, Małgorzata Rurarz
Hypertensive encephalopathy as a late complication of autonomic dysreflexia in a 12-year-old boy with a previous spinal cord injury
Bojko Bjelakovic, Lidija Dimitrijevic, Stevo Lukic, Emilija Golubovic
Purpura, petechiae, and bullae as first signs of juvenile granulomatosis with polyangiitis
Saara Rawn, Paivi Miettunen, Holly A. Brown, Heinrike Schmeling
Neurofibromatosis type 1 (NF1) with an unusually severe phenotype due to digeny for NF1 and ryanodine receptor 1 associated myopathy
Florence Martin, Veronika Kana, Andrea Capone Mori, Dirk Fischer, Nicolas Parkin, Eugen Boltshauser, Elisabeth Jane Rushing, Andrea Klein
The value of DNA storage and pedigree analysis in rare diseases: a 17-year-old boy with X-linked lymphoproliferative disease (XLP) caused by a de novo SH2D1A mutation
E. Overwater, Y. Smulders, M. van der Burg, M. P. Lombardi, H. E. Meijers-Heijboer, T. W. Kuijpers, A. C. Houweling
A pediatric case of gluten sensitivity with severe neurological presentation
R. Jorge, C. Aguiar, C. Espinheira, E. Trindade, A. M. Maia, R. Sousa
Interventional closure of RPA-to-LA communication in an oligosymptomatic neonate
Dominik C. Benz, Barbara Burkhardt, Daniel Quandt, Dominik Stambach, Walter Knirsch, Oliver Kretschmar
Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene
Mehmet Gündüz, Filiz Ekici, Eda Özaydın, Serdar Ceylaner, Belen Perez
Neonatal hemolytic anemia due to pyknocytosis
Michel J. Vos, Daniëlle Martens, Sjef J. van de Leur, Richard van Wijk
Unilateral atelectasis in a preterm infant monitored with electrical impedance tomography: a case report
P. S. van der Burg, M. Miedema, F. H. de Jongh, A. H. van Kaam
Malonic aciduria: long-term follow-up of new patients detected by newborn screening
Fabian Baertling, Ertan Mayatepek, Eva Thimm, Andrea Schlune, Alexander Kovacevic, Felix Distelmaier, Gajja S. Salomons, Thomas Meissner
Persistent pure red cell aplasia in dicygotic twins with persistent congenital parvovirus B19 infection—remission following high dose intravenous immunoglobulin
Alice Lejeune, Malte Cremer, Horst von Bernuth, Anke Edelmann, Susanne Modrow, Christoph Bührer
Congenital central hypoventilation syndrome and carbon dioxide sensitivity
Thomas Rossor, Aung Soe, Ravindra Bhat, Anne Greenough
Hypoparathyroidism and central diabetes insipidus: in search of the link
Ori Eyal, Asaf Oren, Harald Jüppner, Raz Somech, Annamaria De Bellis, Michael Mannstadt, Auryan Szalat, Margalit Bleiberg, Yosef Weisman, Naomi Weintrob
Heart transplant and 2-year follow up in a child with generalized arterial calcification of infancy
Isabella Giovannoni, Francesco Callea, Lorena Travaglini, Antonio Amodeo, Paola Cogo, Aurelio Secinaro, Carla Bizzarri, Renato Cutrera, May El Hachem, Paola Francalanci
Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome
Jennifer E. Posey, Vedanta Dariya, Joseph L. Edmonds, Edward I. Lee, Frank J. Probst, Muralidhar H. Premkumar