Case Reports in Pediatrics The latest articles from Hindawi Publishing Corporation © 2014 , Hindawi Publishing Corporation . All rights reserved. Pulmonary Hemosiderosis in Children with Bronchopulmonary Dysplasia Wed, 17 Sep 2014 06:06:09 +0000 We describe a possible association between pulmonary hemosiderosis (PH) and a history of bronchopulmonary dysplasia (BPD). Both patients were born at 28-week gestation and presented with PH at ages 22 months and 6 years, respectively. Both initially presented with cough and tachypnea, and bronchoalveolar lavage showed evidence of hemosiderin-laden macrophages. Initial hemoglobin levels were < 4 g/dL and chest radiographs showed diffuse infiltrates that cleared dramatically within days after initiation of intravenous corticosteroids. In the first case, frank pulmonary blood was observed upon initial intubation, prompting the need for high frequency ventilation, immediate corticosteroids, and antibiotics. The mechanical ventilation wean was made possible by the addition of mycophenolate mofetil (MMF) and hydroxychloroquine. Slow tapering off of medications was accomplished over 6 years. These cases represent a possible correlation between prematurity-associated BPD and PH. We present a review of the literature regarding this possible association. In addition, MMF proved to be life-saving in one of the PH cases, as it has been in pulmonary hemorrhage related to systemic lupus erythematosus. Further studies are warranted to investigate the possible association between PH and prematurity-related BPD, as well as the use of MMF in the treatment of PH. David Kurahara, Marina Morie, Maya Yamane, Sarah Lam, Wallace Matthews, Keolamau Yee, and Kara Yamamoto Copyright © 2014 David Kurahara et al. All rights reserved. A Rare Case of Neonatal Complicated Appendicitis in a Child with Patau’s Syndrome Wed, 03 Sep 2014 06:32:36 +0000 Neonatal appendicitis is a rare condition with high mortality rate. Signs and symptoms are often nonspecific, imaging modalities are not always diagnostic, and preoperative diagnosis is difficult with subsequent delay and complications. Its pathophysiology may be different from appendicitis in older children and comorbidities can be found. We report a case of a female neonate with Patau’s syndrome, intestinal malrotation, and Fallot tetralogy in whom perforated appendix, probably occurring during fetal period due to vascular insufficiency, was found at laparotomy. Valentina Pastore and Fabio Bartoli Copyright © 2014 Valentina Pastore and Fabio Bartoli. All rights reserved. Cooccurrence of Darier’s Disease and Epilepsy: A Pediatric Case Report and Review of the Literature Mon, 01 Sep 2014 09:35:38 +0000 Darier’s disease is a skin disorder characterized by multiple eruptions of hyperkeratosis or crusted papules at seborrheic areas with histologic acantholysis and dyskeratosis. It is caused by mutations in a single gene, being ATP2A2 and that is expressed in the skin and brain. The cooccurrence of various neurologic and psychiatric diseases with Darier's disease has been reported frequently in literature. They include mood disorders, epilepsy, encephalopathy, and schizophrenia. In this study, we report a pediatric case with the cooccurrence of Darier’s disease and epilepsy. We also revised current English literature on this topic. Tamer Celik, Umit Celik, Cigdem Donmezer, Mustafa Komur, Orkun Tolunay, and Pelin Demirtürk Copyright © 2014 Tamer Celik et al. All rights reserved. A Case of Diprosopus: Perinatal Counseling and Management Sun, 31 Aug 2014 08:42:49 +0000 Diprosopus is a rare congenital malformation associated with high mortality. Here, we describe a patient with diprosopus, multiple life-threatening anomalies, and genetic mutations. Prenatal diagnosis and counseling made a beneficial impact on the family and medical providers in the care of this case. Kimberly M. Thornton, Timothy Bennett, Vivekanand Singh, Neil Mardis, Jennifer Linebarger, Howard Kilbride, and Kristin Voos Copyright © 2014 Kimberly M. Thornton et al. All rights reserved. Can Attention Deficits Predict a Genotype? Isolate Attention Difficulties in a Boy with Klinefelter Syndrome Effectively Treated with Methylphenidate Tue, 19 Aug 2014 07:42:56 +0000 This paper describes a 17-year-old boy who was diagnosed with Klinefelter syndrome (KS) (XXY) at the age of 16 years. Although cognitive level was absolutely normal, he showed attentional difficulties that negatively affected school adjustment. He was successfully treated with methylphenidate. A significant improvement was observed in the ADHD Rating Scale IV and in the inattention subscale score of the Conners Scales. The CGI-S score improved from 3 to 1, and the CGI-I score at the end point was 1 (very much improved). Also attention measures, particularly forward and backward digit span, improved with MPH treatment. Given the widely variable and often aspecific features, KS may run undiagnosed in a large majority of affected patients. A close attention to the cognitive phenotype may favour a correct diagnosis, and a timely treatment. Antonella Gagliano, Eva Germanò, Loredana Benedetto, and Gabriele Masi Copyright © 2014 Antonella Gagliano et al. All rights reserved. Cutaneous Manifestation of Metastatic Infantile Choriocarcinoma Tue, 12 Aug 2014 08:56:26 +0000 Infantile choriocarcinoma is a highly malignant rare germ cell tumor that arises from the placenta. Simultaneous intraplacental choriocarcinoma involving both mother and infant is extremely rare. Cutaneous metastasis in infantile choriocarcinoma is even rarer with only a few case reports available. Here we describe a case of a female neonate who presented to the ED with a rapidly growing and bleeding vascular lesion to her right cheek. She was eventually diagnosed by biopsy with metastatic choriocarcinoma. In addition to the cutaneous tumor, she also had metastatic disease in her lungs. Her mother was subsequently found to have choriocarcinoma with metastatic disease to the lungs as well. Timothy Brooks and Laura Nolting Copyright © 2014 Timothy Brooks and Laura Nolting. All rights reserved. The Value of Family History in Diagnosing Primary Immunodeficiency Disorders Tue, 05 Aug 2014 00:00:00 +0000 Eliciting proper family medical history is critical in decreasing morbidity and mortality in patients with primary immunodeficiency disorders (PIDs). Communities with a common practice of consanguinity have a high rate of PIDs. We are presenting 2 cases where digging deeply into the family medical history resulted in the diagnosis of Omenn syndrome, a possibly fatal entity if not managed in a reasonable period. Mohamed A. Hendaus, Ahmad Alhammadi, Mehdi M. Adeli, and Fawzia Al-Yafei Copyright © 2014 Mohamed A. Hendaus et al. All rights reserved. Smith-Lemli-Opitz Syndrome: A Case with Annular Pancreas Tue, 05 Aug 2014 00:00:00 +0000 Smith-Lemli-Opitz syndrome is an autosomal recessive disease of cholesterol metabolism. It is a multiple malformation syndrome with typical dysmorphic features such as bitemporal narrowing, ptosis, epicanthus, microcephaly, micrognathia, and cardiovascular, skeletal, urogenital, and gastrointestinal anomalies. This report presents a typical case of Smith-Lemli-Opitz syndrome with annular pancreas which is an unreported gastrointestinal abnormality. Mehmet Demirdöven, Hamza Yazgan, Mevlit Korkmaz, Arzu Gebeşçe, and Alparslan Tonbul Copyright © 2014 Mehmet Demirdöven et al. All rights reserved. Gitelman Syndrome in a School Boy Who Presented with Generalized Convulsion and Had a R642H/R642W Mutation in the SLC12A3 Gene Wed, 16 Jul 2014 00:00:00 +0000 An 8-year-old Japanese boy presented with a generalized convulsion. He had hypokalemia (serum K 2.4 mEq/L), hypomagnesemia, and metabolic alkalosis (BE 5.7 mmol/L). In addition, his plasma renin activity was elevated. He was tentatively diagnosed with epilepsy on the basis of the electroencephalogram findings and was treated by potassium L-aspartate and carbamazepine to control the hypokalemia and seizure, respectively. However, a year later, the patient continued to have similar abnormal laboratory data. A presumptive diagnosis of Gitelman syndrome (GS) was then made and the patient’s peripheral blood mononuclear cells were subjected to sequence analysis of the SLC12A3 gene, which encodes a thiazide-sensitive sodium-chloride cotransporter. The patient was found to have compound heterozygous mutations, namely, R642H inherited from his father and R642W inherited from his mother. Thus, if a patient shows persistent hypokalemia and metabolic alkalosis, GS must be considered, even if the patient exhibits atypical clinical symptoms. Shigeru Makino, Toshihiro Tajima, Jun Shinozuka, Aki Ikumi, Hitoshi Awaguni, Shin-ichiro Tanaka, Rikken Maruyama, and Shinsaku Imashuku Copyright © 2014 Shigeru Makino et al. All rights reserved. Perilobar Nephroblastomatosis: Natural History and Management Wed, 09 Jul 2014 10:38:38 +0000 Nephroblastomatosis (NB) has been considered as a precursor of Wilms tumor (WT). The natural history of NB seems to present significant variation as some lesions may regress spontaneously, while others may grow and expand or relapse and develop into WT later in childhood. Although, most investigators suggest adjutant chemotherapy, the effect and duration of treatment are not well established. Children with diffuse perilobar NB, Beckwith-Wiedemann syndrome, and hemihypertrophy seem to particularly benefit from treatment. We discuss our experience on two cases of NB and we review the literature for the management of this rare condition. S. Stabouli, N. Printza, J. Dotis, A. Matis, D. Koliouskas, N. Gombakis, and F. Papachristou Copyright © 2014 S. Stabouli et al. All rights reserved. Acute Brachial Artery Thrombosis in a Neonate Caused by a Peripheral Venous Catheter Mon, 30 Jun 2014 12:03:27 +0000 This case describes the diagnostic testing and management of an acute thrombosis of the brachial artery in a female neonate. On day seven of life, clinical signs of acutely decreased peripheral perfusion indicated an occlusion of the brachial artery, which was confirmed by high-resolution Doppler ultrasound. Imaging also showed early stages of collateralization so that surgical treatment options could be avoided. Unfractionated heparin was used initially and then replaced by low-molecular-weight heparin while coagulation parameters were monitored closely. Within several days, brachial artery perfusion was completely restored. Acetylsalicylic acid was given for additional six weeks to minimize the risk of recurring thrombosis. If inadequately fixated in a high-risk location, a peripheral venous catheter can damage adjacent structures and thus ultimately cause arterial complications. Simon Berzel, Emilia Stegemann, Hans-Joerg Hertfelder, Katja Schneider, and Nico Hepping Copyright © 2014 Simon Berzel et al. All rights reserved. Inflammatory Bowel Disease in a Child with Sickle Cell Anemia Sun, 29 Jun 2014 11:09:00 +0000 Sickle cell anemia (SCA) is a chronic haemoglobinopathy that can affect many organs in the body including gastrointestinal tract. However, colonic involvement is very rare and usually in the form of ischemic colitis. We are reporting an 11-year-old Saudi girl with SCA who presented with persistent diarrhea and was found to have inflammaftory bowel disease. Khaled Alqoaer, Mohammed M. Ahmed, and Efteraj S. Alhowaiti Copyright © 2014 Khaled Alqoaer et al. All rights reserved. Acute Peripheral Facial Palsy after Chickenpox: A Rare Association Wed, 25 Jun 2014 15:47:30 +0000 Chickenpox, resulting from primary infection by the varicella-zoster virus, is an exanthematous disease very common during childhood and with good prognosis. However, serious complications, namely, neurological syndromes, may develop during its course, especially in risk groups, including adolescents. Peripheral facial palsy is a rare neurologic complication that has been previously described. Conclusion. We report the case of a teenager with peripheral facial palsy as a complication of chickenpox, aiming to increase the awareness of this rare association. Helena Ferreira, Ângela Dias, and Andreia Lopes Copyright © 2014 Helena Ferreira et al. All rights reserved. Apparent Life-Threatening Event following Maternal Use of Temazepam during Labour Sun, 15 Jun 2014 11:41:38 +0000 Benzodiazepines are one of the most frequently prescribed psychotropic drugs during pregnancy. Despite the fact that these drugs have been in use for a long time, there is still debate about the safety for the developing fetus and neonate. We present a case of a newborn with an apparent life-threatening event shortly after birth following maternal temazepam use during labour and advise to be reserved in prescribing any dose of any kind of benzodiazepine during labour. L. Damen, D. H. Visser, S. D. Sie, and M. M. van Weissenbruch Copyright © 2014 L. Damen et al. All rights reserved. Description of the First Case of Adenomyomatosis of the Gallbladder in an Infant Sun, 15 Jun 2014 11:38:23 +0000 We report here the case of the youngest patient with adenomyomatosis of the gallbladder in a female infant diagnosed at 4 months of age. This diagnosis was made based on characteristic ultrasonography findings in a patient that was undergoing routine surveillance for a suspected clinical diagnosis of Beckwith-Wiedemann syndrome. The patient remains asymptomatic and currently no surgical interventions have been needed. We review the pathophysiology and ultrasonographic findings of this rare condition and present a comparison with the only other four pediatric cases of adenomyomatosis of the gallbladder. Yuri A. Zarate, Katherine A. Bosanko, Chaowapong Jarasvaraparn, Jaime Vengoechea, and Elizabeth M. McDonough Copyright © 2014 Yuri A. Zarate et al. All rights reserved. Ophthalmic Treatment and Vision Care of a Patient with Rare Ring Chromosome 15: A Case Report Tue, 03 Jun 2014 11:38:15 +0000 The Aim. Ring chromosome 15 is a very rare genetic abnormality with a wide spectrum of clinical findings. Up to date, about 50 cases have been documented, whereas no reports on ophthalmological treatment of such patients have been published. The aim of this study is not only to describe a new patient, but also, for the first time, to present the results of nonoperative management of divergent strabismus. Material and Methods. We present an amblyopic patient with 46,XX, r(15) karyotype: treated conservatively for exotropia of 60 prism diopters. The management consisted of refractive and prismatic correction, eye occlusion, and orthoptic exercises between the age of 15 months and 8 years. Results. The deviation angle of exotropia was decreased to 10 prism diopters, the visual acuity improved to 1.0 in both eyes (Snellen chart) and the fixation pattern was normal. The prisms enabled permanent symmetrical stimulation of the retina, which lead to a development of normal single binocular vision (Maddox test, filter test, and synoptophore tests). Conclusions. Parental karyotype was normal; the analysis of a three-generation pedigree has shown no genetic abnormalities or pregnancy losses so the child’s karyotype anomaly was classified as de novo that is a single occurrence of this type of chromosomal disorder in this family. Strabismus in ring chromosome 15 patients is a difficult condition to manage, although success may be achieved. Lidia Puchalska-Niedbał, Stanisław Zajączek, Elżbieta Petriczko, and Urszula Kulik Copyright © 2014 Lidia Puchalska-Niedbał et al. All rights reserved. Two Cases of Progressive Familial Intrahepatic Cholestasis Type 2 Presenting with Severe Coagulopathy without Jaundice Mon, 02 Jun 2014 06:11:47 +0000 Progressive familial intrahepatic cholestasis (PFIC) type 2 results from a mutation in the bile salt exporter pump, impeding bile acid transport. Patients usually present with jaundice, pruritus, growth failure, and fat soluble vitamin deficiencies. We present two patients diagnosed with PFIC type 2 due to severe coagulopathy and bleeding without jaundice. Eric Tibesar, Christine Karwowski, Paula Hertel, Ann Scheimann, and Wikrom Karnsakul Copyright © 2014 Eric Tibesar et al. All rights reserved. Huge Intrathoracic Malignant Peripheral Nerve Sheath Tumor in an Adolescent with Neurofibromatosis Type 1 Sun, 25 May 2014 08:35:41 +0000 Malignant peripheral nerve sheath tumor (MPNST) is a rare soft tissue malignancy usually found in patients with neurofibromatosis type 1 (NF1) with a poor outcome. Although MPNST can be found in any part of the body including head and neck or extremities, intrathoracic MPNST with or without NF1 is uncommon, especially in children or adolescents. Reported herein is a case of huge intrathoracic MPNST in a 16-year-old girl with NF1, and a brief review of the literature. Jong Hyung Yoon, Hyun-Sung Lee, Jong In Chun, Seog-Yun Park, Hyeon Jin Park, and Byung-Kiu Park Copyright © 2014 Jong Hyung Yoon et al. All rights reserved. Aspiration Pneumonitis Caused by Polyethylene Glycol-Electrolyte Solution Treated with Conservative Management Sun, 18 May 2014 12:15:11 +0000 Polyethylene glycol (PEG) electrolyte solution, Golytely, is an osmotic laxative commonly used in preoperative bowel cleansing. In this case report, a 9-year-old boy developed aspiration pneumonitis following accidental infusion of PEG solution into his right lung following migration of his nasogastric tube (NGT). Hypoxemia and tachypnea without respiratory failure were observed after infusion. Because PEG is a nonabsorbable toxic material, previous case reports have advocated for the performance of bronchoalveolar lavage (BAL) in the treatment of PEG pneumonitis. With close monitoring, our patient was able to be successfully treated without the need for invasive interventions including BAL or intubation. Generalizations about PEG absorption in the lung based on its permeability in the gastrointestinal tract should not deter the use of more conservative treatment in the appropriate patient. Ricardo A. Mosquera, Mark McDonald, and Cheryl Samuels Copyright © 2014 Ricardo A. Mosquera et al. All rights reserved. Septic Bursitis in an 8-Year-Old Boy Tue, 13 May 2014 07:25:32 +0000 Background. The prepatellar bursa can become inflamed owing to repeated trauma. Prepatellar bursitis is extremely rare in children. Methods. We report the case of an 8-year-old boy who was treated for an erythematous, swollen, and severely painful right knee, fever, inability to bear weight on the leg, and purulent material draining from a puncture wound. We describe the differential diagnosis for tender swollen knee, including infection, gout, rheumatoid arthritis, and osteoarthritis. If untreated, prepatellar bursitis can progress to patellar osteomyelitis. Results. Wound cultures grew Streptococcus pyogenes, with the infection resolving with amoxicillin. Conclusions. A high index of suspicion is necessary in children presenting with prepatellar bursitis to prevent potentially devastating sequelae of infection of the septic joint. Panagiotis Kratimenos, Ioannis Koutroulis, Dante Marconi, Jennifer Ding, Christos Plakas, and Margaret Fisher Copyright © 2014 Panagiotis Kratimenos et al. All rights reserved. Clostridium sordellii as a Cause of Fatal Septic Shock in a Child with Hemolytic Uremic Syndrome Wed, 07 May 2014 07:37:51 +0000 Clostridium sordellii is a toxin producing ubiquitous gram-positive anaerobe, mainly associated with trauma, soft tissue skin infections, and gynecologic infection. We report a unique case of a new strain of Clostridium sordellii (not present in the Center for Disease Control (CDC) database) infection induced toxic shock syndrome in a previously healthy two-year-old male with colitis-related hemolytic uremic syndrome (HUS). The patient presented with dehydration, vomiting, and bloody diarrhea. He was transferred to the pediatric critical care unit (PICU) for initiation of peritoneal dialysis (PD). Due to increased edema and intolerance of PD, he was transitioned to hemodialysis through a femoral vascular catheter. He subsequently developed severe septic shock with persistent leukocytosis and hypotension, resulting in subsequent death. Stool culture confirmed Shiga toxin producing Escherichia coli 0157:H7. A blood culture was positively identified for Clostridium sordellii. Clostridium sordelli is rarely reported in children; to our knowledge this is the first case described in a pediatric patient with HUS. Rebekah Beyers, Michael Baldwin, Sevilay Dalabih, and Abdallah Dalabih Copyright © 2014 Rebekah Beyers et al. All rights reserved. Troubling Toys: Rare-Earth Magnet Ingestion in Children Causing Bowel Perforations Wed, 30 Apr 2014 11:00:21 +0000 Ingestion of foreign bodies in the pediatric population is common and magnet ingestion is known to cause a significant morbidity. Rare-earth magnets are small 3–6 mm diameter spherical powerful magnets that are sold as popular desk toys for adults and were previously found in construction toys in attractive colors for children to play with. We describe 2 young healthy children who ingested rare-earth magnets Buckyballs while playing with these magnetic toys and later presented in emergency with acute abdomen. Abdominal imaging revealed several (26 and 5) pieces of rare-earth magnets in the bowel loops. Emergency surgical exploration revealed multiple gastrointestinal perforations and fistula formation at sites of bowel entrapment in between strong magnets apposed to one another. We highlight the potential dangers of rare-earth magnets in children and suggest increasing public awareness about risks involved in rare-earth magnets ingestion by children to overcome this serious public health issue. Parkash Mandhan, Muthana Alsalihi, Saleem Mammoo, and Mansour J. Ali Copyright © 2014 Parkash Mandhan et al. All rights reserved. Burkitt Lymphoma of Thyroid Gland in an Adolescent Thu, 24 Apr 2014 14:22:32 +0000 Burkitt Lymphoma is a highly aggressive form of non-Hodgkin’s lymphoma that in nonendemic areas has abdominal primary sites. We report a very rare case of Burkitt lymphoma of the thyroid gland presenting as a rapidly growing thyroid swelling in a 14-year-old white Caucasian British male with no preexisting thyroid or medical problems. The diagnosis was confirmed by an open wedge biopsy following a fine needle aspiration. The patient was treated according to the Children’s Cancer and Leukaemia Group guidelines for BL—Group B protocol and currently is in remission. K. Cooper, A. Gangadharan, R. S. Arora, R. Shukla, and B. Pizer Copyright © 2014 K. Cooper et al. All rights reserved. A Triad of Congenital Diaphragmatic Hernia, Meckel’s Diverticulum, and Heterotopic Pancreas Thu, 03 Apr 2014 05:50:11 +0000 Congenital diaphragmatic hernia is a common developmental anomaly encountered by paediatric surgeons. It is known to be associated with extradiaphragmatic malformations, which include cardiac, renal, genital, and chromosomal abnormalities. Herein, we report a newborn born with concurrent congenital diaphragmatic hernia, Meckel’s diverticulum, and heterotopic pancreatic tissue. This is the first case report of such a triad with description of possible mechanisms of the development. Parkash Mandhan, Amer Al Saied, and Mansour J. Ali Copyright © 2014 Parkash Mandhan et al. All rights reserved. Familial Mediterranean Fever: Diagnosing as Early as 3 Months of Age Thu, 27 Mar 2014 16:14:54 +0000 Familial Mediterranean Fever is an autosomal recessive disease. Major symptoms of disease are recurrent fever accompanied by serositis attacks. The disease is usually diagnosed before 20 years of age. Symptoms related to FMF are noted when children become more verbal, usually after 2 years of age. In this case report, the youngest patient with the diagnosis of FMF is presented. She was consulted to pediatric rheumatology for the high acute phase response and fever. It was learned that her mother had recurrent swelling of her ankle joints. Mutation analysis was performed and two homozygous mutations (M694V and R202Q) were identified. She was diagnosed as FMF at 3 months of age and colchicine was started. She responded to colchicine. Her uncontrolled acute phase response declined gradually. This case was reported to point out the importance of early remembrance of autoinflammatory diseases even at very early ages especially at endemic countries. Gonca Keskindemirci, Nuray Aktay Ayaz, Esin Aldemir, Çiğdem Aydoğmuş, Gönül Aydoğan, and Sultan Kavuncuoğlu Copyright © 2014 Gonca Keskindemirci et al. All rights reserved. Nonconvulsive Status Epilepticus Complicating Epstein-Barr Virus Encephalitis in a Child Wed, 12 Mar 2014 09:51:57 +0000 Children with acute encephalopathy show prolonged electrographic seizure activity consistent with nonconvulsive status epilepticus (NCSE). Pediatric NCSE is a heterogeneous clinical entity with poor outcome and different etiologies, including central nervous system infection, stroke, toxic-metabolic syndrome, and epileptic syndrome. We report a 4-year-old girl with seizure and behavioral changes in whom the analysis of cerebrospinal fluid by polymerase chain reaction was positive for Epstein-Barr virus. We emphasize the importance of electroencephalography (EEG), and particularly, of continuous EEG monitoring for early recognition and appropriate treatment of this condition. Filippo Greco, Maria Donatella Cocuzza, Pierluigi Smilari, Giovanni Sorge, and Lorenzo Pavone Copyright © 2014 Filippo Greco et al. All rights reserved. Development of Localized Pulmonary Interstitial Emphysema in a Late Preterm Infant without Mechanical Ventilation Tue, 11 Mar 2014 13:53:22 +0000 Pulmonary interstitial emphysema (PIE) is not an uncommon finding in premature infants with respiratory distress who need respiratory support by mechanical ventilation. PIE has been reported in a few cases of neonates in whom either no treatment other than room air was given or they were given continuous positive end-expiratory pressure (CPAP) support. We present a case of a premature neonate who presented with respiratory distress, in whom PIE and spontaneous pneumothorax (PTX) developed while on CPAP therapy only. The patient was treated conservatively with subsequent resolution of the radiological findings and clinical improvement. No surgical intervention was required. It is important to know that PIE may develop independently of mechanical ventilation. We would like to add this case to the literature and describe the pertinent plain film and computed tomography (CT) findings of this entity, the possible mechanism of development, and the differential diagnosis. A review of the literature is also provided. Pritish Bawa, Kultida Soontarapornchai, Agnes Perenyi, Rachelle Goldfisher, and John Amodio Copyright © 2014 Pritish Bawa et al. All rights reserved. Membranoproliferative Glomerulonephritis and X-Linked Agammaglobulinemia: An Uncommon Association Tue, 04 Mar 2014 12:35:10 +0000 Introduction. X-linked agammaglobulinemia (XLA) is a primary immunodeficiency characterized by agammaglobulinemia requiring replacement treatment with immunoglobulin. The association of XLA and membranoproliferative glomerulonephritis (MPGN) is unexpected and, to our knowledge, only one case was previously published. Case Report. The authors report the case of a 10-year-old boy with family history and prenatal diagnosis of XLA, treated from birth with intravenous immunoglobulin replacement therapy. He presented with pneumonia, macroscopic hematuria, nephrotic proteinuria, hypoalbuminemia, and hypercholesterolemia with normal renal function and serum complement levels. Renal histology showed immune complex mediated MPGN. He was started on high dose prednisolone and ramipril and switched to weekly subcutaneous immunoglobulin. After a 4-month treatment, hematuria and proteinuria significantly improved and prednisolone was gradually tapered without relapse. Conclusion. The pathogenic process underlying MPGN development in this patient is unknown but residual humoral immunity might play an important role. Thus, this case highlights the risk of autoimmune disorders among patients with XLA. Vasco Lavrador, Filipa Correia, Rita Sampaio, Cristina Cândido, Maria Sameiro-Faria, Laura Marques, and Conceição Mota Copyright © 2014 Vasco Lavrador et al. All rights reserved. Neonatal Hepatitis as First Manifestation of Hyperimmunoglobulinemia D Syndrome Mon, 03 Mar 2014 06:27:35 +0000 Hyper IgD syndrome (HIDS) is a rare metabolic autoinflammatory syndrome characterised by recurrent febrile episodes, accompanied by various inflammatory symptoms. We present a case of severe HIDS in a young girl, whose symptoms started in the neonatal period with hepatomegaly, hepatitis, thrombocytopenia, and conjugated hyperbilirubinemia. From the age of five months, the child had recurrent febrile episodes, stomatitis, adenitis, and persistent hepatomegaly. The diagnosis of HIDS was established when she was three years and eight months old. This case report suggests that HIDS should be included in the differential diagnosis of neonatal hepatitis and conjugated hyperbilirubinemia. Marie-Louise von Linstow and Vibeke Rosenfeldt Copyright © 2014 Marie-Louise von Linstow and Vibeke Rosenfeldt. All rights reserved. A Giant Pedunculated Urothelial Polyp Mimicking Bladder Mass in a Child: A Rare Case Sun, 23 Feb 2014 00:00:00 +0000 Ureteral fibroepithelial polyps are rarely seen benign tumors with mesodermal origin. These polyps can involve kidney, pelvis, ureter, bladder, and urethra. The most common symptoms are hematuria and flank pain. The choice of treatment is either endoscopic or surgical resection of polyp by sparing kidney. Here, we presented a pediatric case with giant, fibroepithelial polyp that mimics bladder tumor, originating from middle segment of the ureter. Mehmet Kaba, Sultan Kaba, Tacettin Yekta Kaya, Hüseyin Eren, and Necip Pirinççi Copyright © 2014 Mehmet Kaba et al. All rights reserved.