Case Reports in Pediatrics The latest articles from Hindawi Publishing Corporation © 2015 , Hindawi Publishing Corporation . All rights reserved. Goldenhar Syndrome Associated with Extensive Arterial Malformations Wed, 25 Nov 2015 08:44:37 +0000 Goldenhar Syndrome is characterized by craniofacial, ocular and vertebral defects secondary to abnormal development of the 1st and 2nd branchial arches and vertebrae. Other findings include cardiac and vascular abnormalities. Though these associations are known, the specific anomalies are not well defined. We present a 7-month-old infant with intermittent respiratory distress that did not improve with respiratory interventions. Echocardiogram suggested a double aortic arch. Cardiac CT angiogram confirmed a right arch and aberrant, stenotic left subclavian artery, dilation of the main pulmonary artery, and agenesis of the left thyroid lobe. Repeat echocardiograms were concerning for severely dilated coronary arteries. Given dilation, a rheumatologic workup ensued, only identifying few weakly positive autoantibodies. Further imaging demonstrated narrowing of the aorta below the renal arteries and extending into the common iliac arteries and proximal femoral arteries. Given a physical exam devoid of rheumatologic findings, only weakly positive autoantibodies, normal inflammatory markers, and presence of the coronary artery dilation, the peripheral artery narrowings were not thought to be vasculitic. This case illustrates the need to identify definitive anomalies related to Goldenhar Syndrome. Although this infant’s presentation is rare, recognition of specific vascular findings will help differentiate Goldenhar Syndrome from other disease processes. Renee Frances Modica, L. Daphna Yasova Barbeau, Jennifer Co-Vu, Richard D. Beegle, and Charles A. Williams Copyright © 2015 Renee Frances Modica et al. All rights reserved. A Case of Hemolytic Disease of the Newborn due to Dia Antibody Sun, 22 Nov 2015 07:28:01 +0000 Anti- is a clinically significant red cell antibody known to cause hemolytic disease of the newborn. Here, we report on a case of mild hemolytic disease of the newborn caused by antibody. The mother had three prior pregnancies with no history of blood transfusion. She delivered a preterm 35-week-old female newborn by cesarean section. The neonate developed anemia and mild icterus on postnatal day five with hemoglobin of 9500 mg/dL and total bilirubin of 10 mg/dL. The direct antiglobulin test on the neonate’s red blood cells was positive. The maternal serum and an eluate from the infant RBCs were negative in routine antibody detection tests but were positive using commercially prepared Di(a+) red cells. The neonate was discharged home in stable condition following treatment with erythropoietin and phototherapy. When a newborn has a positive DAT in the absence of major blood group incompatibility or commonly detected RBC antibodies, an antibody to a low frequency antigen such as must be considered. Further immunohematology tests are required to determine presence of the antibody and the clinician must be alerted to closely monitor the infant for signs of anemia and hemolysis. Ashif Jethava, Esperanza Olivares, and Sherry Shariatmadar Copyright © 2015 Ashif Jethava et al. All rights reserved. Abdominal Lymphonodular Cryptococcosis in an Immunocompetent Child Mon, 16 Nov 2015 13:36:31 +0000 We describe our experience with an apparently immunocompetent child presenting with pyrexia of unknown origin without focal signs. Investigations revealed lymphadenopathy at lung hila, mesentery, and porta hepatis. The child had received at least two months of empiric antituberculous therapy (ATT) before she came to us. A CT-guided biopsy revealed granulomatous inflammation. PAS stain showed yeasts which stained blue with Alcian blue, suggesting C. neoformans. Mehjabeen Zaidi, Sonia Qureshi, Sadia Shakoor, Saira Fatima, and Fatima Mir Copyright © 2015 Mehjabeen Zaidi et al. All rights reserved. A Case of Idiopathic Hypereosinophilic Syndrome Causing Mitral Valve Papillary Muscle Rupture Thu, 12 Nov 2015 07:06:43 +0000 Idiopathic Hypereosinophilic Syndrome (IHES) is a rare disease that can be difficult to diagnose as the differential is broad. This disease can cause significant morbidity and mortality if left untreated. Our patient is a 17-year-old adolescent female who presented with nonspecific symptoms of abdominal pain and malaise. She was incidentally found to have hypereosinophilia of 16,000 on complete blood count and nonspecific colitis and pulmonary edema on computed tomography. She went into cardiogenic shock due to papillary rupture of her mitral valve requiring extreme life support measures including intubation and extracorporal membrane oxygenation (ECMO) as well as mitral valve replacement. Pathology of the valve showed eosinophilic infiltration as the underlying etiology. The patient was diagnosed with IHES after the exclusion of infectious, rheumatologic, and oncologic causes. She was treated with steroids with improvement of her symptoms and scheduled for close follow-up. In general patients with IHES that have cardiac involvement have poorer prognoses. Tiffany Tamse, Avind Rampersad, Alejandro Jordan-Villegas, and Jill Ireland Copyright © 2015 Tiffany Tamse et al. All rights reserved. Eikenella corrodens Sepsis with Cerebrospinal Fluid Pleocytosis in a Very Low Birth Weight Neonate Mon, 09 Nov 2015 08:32:28 +0000 We report a case of Eikenella corrodens sepsis associated with CSF pleocytosis in a very low birth weight neonate. A 1000-gram male neonate was born at 27-week gestation due to preterm labor. The patient presented with signs and symptoms of sepsis and was treated for suspected meningitis with intravenous ampicillin and gentamicin for 7 days, with cefotaxime added for three weeks. He had a normal brain MRI at discharge and normal development at 6 months of life. To our knowledge, this is the first case of E. corrodens sepsis and associated meningitis in a very low birth weight neonate. Christopher Sawyer, Dimitrios Angelis, and Robert Bennett Copyright © 2015 Christopher Sawyer et al. All rights reserved. Acute Lymphocytic Leukemia with Bilateral Renal Masses Masquerading as Nephroblastomatosis Tue, 03 Nov 2015 06:38:50 +0000 Acute lymphoblastic leukemia (ALL) is the most common malignancy in the pediatric patient population. However, renal involvement as the primary manifestation of ALL is rare. We report a case of a 4-year-old boy with bilateral renal lesions resembling nephroblastic rests as the first finding of early stage ALL preceding hematological changes and subsequent classic clinical findings by two weeks. These renal hypodensities completely resolved after one week of induction chemotherapy. This case demonstrates that renal involvement can be the only initial presenting finding of leukemia. Children with lesions resembling nephroblastic rests need appropriate surveillance due to the risk of malignant disease. Poonam Thakore, Salim Aljabari, Curtis Turner, and Tetyana L. Vasylyeva Copyright © 2015 Poonam Thakore et al. All rights reserved. Klippel-Trenaunay Syndrome with Extensive Lymphangiomas Mon, 26 Oct 2015 08:30:49 +0000 Klippel-Trenaunay syndrome (KTS) is a rare disorder characterized by the triad of vascular malformations, venous varicosities, and bone and soft-tissue hypertrophy. We present a case of Klippel-Trenaunay syndrome with limb hypertrophy, port-wine stains, lymphangiomas, and venous varicosities in the limbs. Sirin Mneimneh, Ali Tabaja, and Mariam Rajab Copyright © 2015 Sirin Mneimneh et al. All rights reserved. Update Review and Clinical Presentation in Congenital Insensitivity to Pain and Anhidrosis Thu, 22 Oct 2015 12:02:38 +0000 Introduction. Congenital insensitivity to pain and anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV is an extremely rare syndrome. Three clinical findings define the syndrome: insensitivity to pain, impossibility to sweat, and mental retardation. This pathology is caused by a genetic mutation in the NTRK1 gene, which encodes a tyrosine receptor (TrkA) for nerve growth factor (NGF). Methods. The consultation of a child female in our center with CIPA and a tibia fracture in pseudoarthrosis encouraged us to carefully review literature and examine the therapeutic possibilities. A thorough review of literature published in Pubmed was done about CIPA and other connected medical issues mentioned in the paper. Conclusions. The therapeutic approach of CIPA remains unclear. The preventive approach remains the only possible treatment of CIPA. We propose two new important concepts in the therapeutic approach for these patients: (1) early surgical treatment for long bone fractures to prevent pseudoarthrosis and to allow early weight bearing, decreasing the risk of further osteopenia, and (2) bisphosphonates to avoid the progression of osteopenia and to reduce the number of consecutive fractures. L. M. Pérez-López, M. Cabrera-González, D. Gutiérrez-de la Iglesia, S. Ricart, and G. Knörr-Giménez Copyright © 2015 L. M. Pérez-López et al. All rights reserved. Neonatal Hyperglycemia due to Transient Neonatal Diabetes Mellitus in Puerto Rico Tue, 20 Oct 2015 06:41:42 +0000 Neonatal hyperglycemia is a metabolic disorder found in the neonatal intensive care units. Neonatal diabetes mellitus (NDM) is a very uncommon cause of hyperglycemia in the newborn, occurring in 1 in every 400,000 births. There are two subtypes of neonatal diabetes mellitus: permanent neonatal diabetes mellitus (PNDM) and transient neonatal diabetes mellitus (TNDM). We describe a term, small for gestational age, female neonate with transient neonatal diabetes mellitus who presented with poor feeding tolerance and vomiting associated with hyperglycemia (385 mg/dL), glycosuria, and metabolic acidosis within the first 12 hours of life. The neonate was treated with intravenous insulin, obtaining a slight control of hyperglycemia. An adequate glycemia was achieved at 5 weeks of life. The molecular studies showed complete loss of maternal methylation at the TND differentially methylated region on chromosome 6q24. The etiology of this neonate’s hyperglycemia was a hypomethylation of the maternal TND locus. A rare cause of neonatal diabetes mellitus must be considered if a neonate presents refractory hyperglycemia. To our knowledge, this is the first case reported in Puerto Rico of transient neonatal mellitus due to the uncommon mechanism of maternal hypomethylation of the TND locus. Its prevalence in Puerto Rico is unknown. N. Fargas-Berríos, L. García-Fragoso, I. García-García, and M. Valcárcel Copyright © 2015 N. Fargas-Berríos et al. All rights reserved. Corrigendum to “Two Mutations in Surfactant Protein C Gene Associated with Neonatal Respiratory Distress” Mon, 19 Oct 2015 11:22:13 +0000 Anna Tarocco, Elisa Ballardini, Maria Raffaella Contiero, Giampaolo Garani, and Silvia Fanaro Copyright © 2015 Anna Tarocco et al. All rights reserved. Postdural Puncture Superior Sagittal Sinus Thrombosis in a Juvenile Case of Clinically Isolated Syndrome Mon, 19 Oct 2015 09:53:39 +0000 Background. The causes of cerebral venous thrombosis (CVT) are manifold as is its clinical presentation. Case. We report the case of a CVT following lumbar puncture and intravenous glucocorticosteroid therapy in a female adolescent with a clinically isolated syndrome and risk factors for thrombosis. Conclusion. In adolescent patients with acute inflammatory disease undergoing lumbar puncture followed by intravenous high-dose glucocorticosteroid therapy, one should be aware of the elevated risk for thrombosis. A persistent headache with change in the headache pattern and loss of a postural component might be a sign for CVT, requiring emergency imaging of the brain. Miriam Michel, Edda Haberlandt, Matthias Baumann, Andreas Entenmann, Michaela Wagner, and Kevin Rostasy Copyright © 2015 Miriam Michel et al. All rights reserved. Corrigendum to “Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism” Tue, 13 Oct 2015 08:38:19 +0000 Ilias Chatziioannidis, Evgenia Babatseva, Aikaterini Patsatsi, Asimina Galli-Tsinopoulou, Constantina Sarri, Maria Lithoxopoulou, George Mitsiakos, Paraskevi Karagianni, Christos Tsakalidis, Zissis Mamuris, and Nikolaos Nikolaidis Copyright © 2015 Ilias Chatziioannidis et al. All rights reserved. Subcutaneous Fat Necrosis of the Newborn: A Case Report of a Term Infant Presenting with Malaise and Fever at Age of 9 Weeks Thu, 08 Oct 2015 09:46:26 +0000 Background. Subcutaneous fat necrosis (SFN) is a rare, temporary, self-limited pathology affecting adipose tissue of full-term or postmature neonates. It is a rare entity especially in Nigeria and usually occurs in the first weeks following a complicated delivery. Because it is not very common, diagnosis is easily missed. It may resolve spontaneously without sequelae but patients need to be followed up because of development of late complications especially hypercalcemia. We report a case of SFN of the newborn noted within one week of birth and highlight the need for proper prompt diagnosis and the need for follow-up to assess possible complications. Ayuk Adaeze Chikaodinaka and Anikene Chukwuemeka Jude Copyright © 2015 Ayuk Adaeze Chikaodinaka and Anikene Chukwuemeka Jude. All rights reserved. A Case Study of Intractable Vomiting with Final Diagnosis of Neuromyelitis Optica Mon, 05 Oct 2015 09:46:52 +0000 This case study presents a patient living in a suburban/rural community who received appropriate referral to secondary and tertiary care for nausea and vomiting, accompanied by waxing and waning neurological symptoms, yet proved difficult to diagnose. This patient is presented to draw attention to a rare neurological disorder which should be included in the differential diagnosis of nausea and vomiting with some key neurological complaints, even in the absence of physical findings. Rachel Bramson and Angela Hairrell Copyright © 2015 Rachel Bramson and Angela Hairrell. All rights reserved. Paravertebral and Retroperitoneal Vascular Tumour Presenting with Kasabach-Merritt Phenomenon in Childhood, Diagnosed with Magnetic Resonance Imaging Tue, 08 Sep 2015 15:34:50 +0000 Kasabach-Merritt phenomenon (KMP) is characterized by vascular tumour and consumptive coagulopathy with life-threatening thrombocytopenia, prolonged prothrombin time and partial thromboplastin time, hypofibrinogenemia, and the presence of high fibrin split products. We report a case of 3-year-old boy with local aggressive vascular lesions associated with KMP. Magnetic resonance imaging revealed an extensive lesion at paravertebral and retroperitoneal regions that was infiltrating vertebrae. Although we did not get any response to steroid or propranolol treatment, partial response was observed radiologically with interferon-alpha treatment. Unfortunately, the patient died because of the uncontrolled consumptive coagulopathy that led to intracranial hemorrhage which was caused by huge knee hematoma after minor trauma. Gonca Keskindemirci, Deniz Tuğcu, Gönül Aydoğan, Arzu Akçay, Nuray Aktay Ayaz, Ali Er, Ensar Yekeler, and Bilge Bilgiç Copyright © 2015 Gonca Keskindemirci et al. All rights reserved. Cardiac Tamponade Associated with the Presentation of Anaplastic Large Cell Lymphoma in a 2-Year-Old Child Tue, 08 Sep 2015 07:49:48 +0000 The anaplastic large cell lymphoma is a rare entity in pediatric patients. We present an unusual case of pericardial involvement, quite uncommon as extranodal presentation of this type of disorder, that provoked a life-risk situation requiring an urgent pericardiocentesis. To our knowledge, this is the first report on a child with pericardial involvement without an associated cardiac mass secondary to anaplastic large cell lymphoma in pediatric age. We report the case of a 21-month-old Caucasian male infant with cardiac tamponade associated with the presentation of anaplastic large cell lymphoma. Initially, the child presented with 24-day prolonged fever syndrome, cutaneous lesions associated with hepatomegaly, inguinal adenopathies, and pneumonia. After a 21-day asymptomatic period, polypnea and tachycardia were detected in a clinical check-up. Chest X-ray revealed a remarkable increase of the cardiothoracic index. The anaplastic large cell lymphoma has a high incidence of extranodal involvement but myocardial or pericardial involvements are rare. For this reason, we recommend a close monitoring of patients with a differential diagnosis of anaplastic large cell lymphoma. Gema Mira-Perceval Juan, Pedro J. Alcalá Minagorre, Ana M. Huertas Sánchez, Sheila Segura Sánchez, Silvia López Iniesta, Francisco J. De León Marrero, Estela Costa Navarro, and María Niveiro de Jaime Copyright © 2015 Gema Mira-Perceval Juan et al. All rights reserved. A Case of Delayed Interval Delivery with a Successful Hospital Move Sun, 30 Aug 2015 12:53:58 +0000 This report is the first case of delayed interval twin delivery in which the first infant and mother survived without major morbidity following transport to another facility. In addition, this case is only the second report of asynchronous delivery in which both twins survived and neither suffered any major morbidity. A 30-year-old G5P1031 African American female with a diamniotic/dichorionic twin pregnancy presented to U.S. Naval Hospital Okinawa, Japan, at 22 + 5 weeks due to vaginal bleeding. At 23 + 2 weeks, Twin A was born secondary to advanced cervical dilation. Twin A’s birth weight was 650 g with APGAR scores of 6 (1 min) and 7 (5 min). Following delivery of Twin A, Placenta A was left in utero with high ligation of the umbilical cord. Due to a scheduled hospital move, the mother and Twin A were transported to the new facility at Camp Foster. Three weeks later, Twin B was delivered at 26 + 4 weeks. Twin B’s birth weight was 930 g with APGAR scores of 3 (1 min) and 7 (5 min). Both twins were discharged without IVH, PVL, ROP, or CLD. This case demonstrates the possibility of transporting both the mother and surviving infant A to a higher level of care prior to delivery of subsequent fetuses. Toshifumi Yodoshi, Elizabeth Tipton, and Christopher A. Rouse Copyright © 2015 Toshifumi Yodoshi et al. All rights reserved. A Rare Cause of Prepubertal Gynecomastia: Sertoli Cell Tumor Sun, 23 Aug 2015 13:41:57 +0000 Prepubertal gynecomastia due to testis tumors is a very rare condition. Nearly 5% of the patients with testicular mass present with gynecomastia. Sertoli cell tumors are sporadic in 60% of the reported cases, while the remaining is a component of multiple neoplasia syndromes such as Peutz-Jeghers syndrome and Carney complex. We present a 4-year-old boy with gynecomastia due to Sertoli cell tumor with no evidence of Peutz-Jeghers syndrome or Carney complex. Fatma Dursun, Şeyma Meliha Su Dur, Ceyhan Şahin, Heves Kırmızıbekmez, Murat Hakan Karabulut, and Asım Yörük Copyright © 2015 Fatma Dursun et al. All rights reserved. Inguinal Hernia Containing Uterus, Fallopian Tube, and Ovary in a Premature Newborn Sun, 16 Aug 2015 13:31:19 +0000 A female infant weighing 2,200 g was delivered at 34 weeks of gestation by vaginal delivery. She presented with an irreducible mass in the left inguinal region at 32 days of age. An ultrasonography (US) was performed and an incarcerated hernia containing uterus, fallopian tube, and ovary was diagnosed preoperatively. Surgery was performed through an inguinal approach; the uterus, fallopian tube, and ovary were found in the hernia sac. High ligation and an additional repair of the internal inguinal ring were performed. Patent processus vaginalis was found during contralateral exploration and also closed. The postoperative course was uneventful. After one year of follow-up, there have been no signs of recurrence. Kıvılcım Karadeniz Cerit, Rabia Ergelen, Emel Colak, and Tolga E. Dagli Copyright © 2015 Kıvılcım Karadeniz Cerit et al. All rights reserved. Isolated Splenic Vein Thrombosis: 8-Year-Old Boy with Massive Upper Gastrointestinal Bleeding and Hypersplenism Wed, 05 Aug 2015 11:53:12 +0000 We present an 8-year-old boy who was referred to our center with the complaint of upper gastrointestinal bleeding and was diagnosed with hypersplenism and progressive esophageal varices. Performing a computerized tomography (CT) scan, we discovered a suspicious finding in the venography phase in favor of thrombosis in the splenic vein. Once complementary examinations were done and due to recurrent bleeding and band ligation failure, the patient underwent splenectomy. And during the one-year follow-up obvious improvement of the esophageal varices was observed in endoscopy. Mohammad Ali Kiani, Arash Forouzan, Kambiz Masoumi, Behnaz Mazdaee, Mohammad Bahadoram, Hamid Reza Kianifar, and Hassan Ravari Copyright © 2015 Mohammad Ali Kiani et al. All rights reserved. Nephrotic Syndrome in a Child Suffering from Tetralogy of Fallot: A Rare Association Mon, 03 Aug 2015 11:15:04 +0000 Nephrotic syndrome is an uncommon complication of tetralogy of Fallot and has been rarely reported in pediatric population. We describe a 4-year-old female Congolese child who was referred for investigation for persistent dyspnea, edema, and cyanosis and nephrotic range proteinuria. Our patient presented with a tetralogy of Fallot and nephrotic syndrome. Conclusion. This case reminds us that children with tetralogy of Fallot may develop nephrotic proteinuria. Pépé Mfutu Ekulu, Orly Kazadi-wa-Kazadi, Paul Kabuyi Lumbala, and Michel Ntetani Aloni Copyright © 2015 Pépé Mfutu Ekulu et al. All rights reserved. A Child with Lung Hypoplasia, Congenital Heart Disease, Hemifacial Microsomia, and Inguinal Hernia: Ipsilateral Congenital Malformations Wed, 29 Jul 2015 15:37:19 +0000 A 3-year-old Chinese boy was diagnosed with ipsilateral congenital malformations: right lung hypoplasia, dextroversion of heart, atrial septal defect, hepatic vein drainage directly into the right atrium, facial asymmetry, right microtia and congenital deafness, and indirect inguinal hernia. He underwent indirect inguinal hernia repair at the age of 2. Although without any facial plastic surgery performed, he underwent a repair of atrial septal defect and recovered uneventfully. At 6-month follow-up, the patient was free from any symptom of dyspnea; his heart function returned to the first grade. Chengming Fan, Can Huang, Jijia Liu, and Jinfu Yang Copyright © 2015 Chengming Fan et al. All rights reserved. Central Hypoventilation: A Case Study of Issues Associated with Travel Medicine and Respiratory Infection Wed, 29 Jul 2015 13:25:50 +0000 Aim. We presented the case of a child with central hypoventilation syndrome (CHS) to highlight issues that need to be considered in planning long-haul flight and problems that may arise during the flight. Case. The pediatric intensive care unit (PICU) received a child with central hypoventilation syndrome (Ondine’s curse) on nocturnal ventilatory support who travelled to Hong Kong on a make-a-wish journey. He was diagnosed with central hypoventilation and had been well managed in Canada. During a long-haul aviation travel, he developed respiratory symptoms and desaturations. The child arrived in Hong Kong and his respiratory symptoms persisted. He was taken to a PICU for management. The child remained well and investigations revealed no pathogen to account for his respiratory infection. He went on with his make-a-wish journey. Conclusions. Various issues of travel medicine such as equipment, airline arrangement, in-flight ventilatory support, travel insurance, and respiratory infection are explored and discussed. This case illustrates that long-haul air travel is possible for children with respiratory compromise if anticipatory preparation is timely arranged. Kam Lun Hon, Alexander K. C. Leung, Albert M. C. Li, and Daniel K. K. Ng Copyright © 2015 Kam Lun Hon et al. All rights reserved. Pulmonary Sequestration: Early Diagnosis and Management Sun, 26 Jul 2015 14:23:36 +0000 Intralobar sequestration is characterized by aberrant formation of nonfunctional lung tissue that has no communication with the bronchial tree and receives systemic arterial blood supply. Failure of earlier diagnosis can lead to recurrent pneumonia, failure to thrive, multiple hospital admissions, and more morbidity. The aim of this case report is to increase the awareness about the lung sequestration, to diagnose and treat it early, so that it is resected before repeated infection, and prevent the morbidity and mortality. Sajad A. Wani, Gowher N. Mufti, Nisar A. Bhat, and Ajaz A. Baba Copyright © 2015 Sajad A. Wani et al. All rights reserved. Benign Recurrent Sixth (Abducens) Nerve Palsy following Measles-Mumps-Rubella Vaccination Tue, 14 Jul 2015 07:35:34 +0000 Benign, isolated, recurrent sixth nerve palsy is rare in children. It may be associated with febrile viral illness and vaccination in exceptional circumstances although this is a diagnosis of exclusion. Here, we present the case of a 2-year-old Caucasian girl who developed recurrent 6th nerve palsy following vaccination with the measles-mumps-rubella (MMR) vaccine. No underlying pathology was identified following extensive investigations and followup. There is limited data available on the pathophysiology of vaccination-related nerve palsies. As with all previous reports of cranial nerve palsies following vaccination, there was complete resolution in this case. Long term followup with repeated physical examination and investigations is warranted to avoid missing severe pathology and operating unnecessarily. Areti Bourtoulamaiou, Sohraab Yadav, and Harish Nayak Copyright © 2015 Areti Bourtoulamaiou et al. All rights reserved. Giant Ovarian Cyst Masquerading as Massive Ascites in an 11-Year-Old Sun, 05 Jul 2015 10:05:35 +0000 We are presenting a unique case of an 11-year-old girl admitted for investigation of progressive abdominal distention of more than one-year duration. Due to the complete cystic nature of the mass and its enormous size, it was not visualized by the ultrasound and was reported as massive ascites. MRI and postoperative histopathology confirmed a diagnosis of giant serous cystadenoma of the right ovary. She underwent a right ovarian cystectomy with complete preservation of both ovaries and fallopian tubes and is doing well on outpatient follow-up. Shaza Ali Mohammed Elhassan, Shabina Khan, and Ahmed El-Makki Copyright © 2015 Shaza Ali Mohammed Elhassan et al. All rights reserved. Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism Wed, 01 Jul 2015 11:50:33 +0000 Netherton syndrome, a rare autosomal recessive genetic disorder, is classified as an ichthyosiform syndrome. In this report we present the case of a neonate with erythroderma shortly after birth, accompanied by severe hypernatremia, recurrent infections, transient hyperaldosteronism, and signs of growth hormone (GH) deficiency. DNA molecular analysis in the SPINK5 gene revealed heterozygosity in our index patient for 238insG and 2468delA frameshift mutations in exons 4 and 26, respectively, in the maternal allele and 1431-12G>A splice-site mutation in intron 15 in the paternal allele as well as the missense variation E420K in homozygous state. Combination of the identified mutations along with transient hyperaldosteronism and possible GH deficiency have not been described before. Accordingly, the importance of early multidisciplinary approach is highlighted, in order to reach accurate diagnosis, initiate prompt treatment, and ensure survival with fewer disease complications. Chatziioannidis Ilias, Babatseva Evgenia, Patsatsi Aikaterini, Galli-Tsinopoulou Asimina, Sarri Constantina, Lithoxopoulou Maria, Mitsiakos George, Karagianni Paraskevi, Tsakalidis Christos, Mamuris Zissis, and Nikolaidis Nikolaos Copyright © 2015 Chatziioannidis Ilias et al. All rights reserved. Cardiac Arrest following a Myocardial Infarction in a Child Treated with Methylphenidate Sun, 28 Jun 2015 07:15:26 +0000 The use of psychostimulants labeled to treat attention deficit/hyperactivity disorder increases. Among side effects these drugs raise blood pressure and heart rate, and the safety has been scrutinised in recent years. Data from large epidemiological studies, including over a million person-years, did not report any cases of myocardial infarction in current users of methylphenidate, and the risk of serious adverse cardiac events was not found to be increased. We present a case with an 11-year-old child, treated with methylphenidate, who suffered cardiac arrest and was diagnosed with a remote myocardial infarction. This demonstrates that myocardial infarction can happen due to methylphenidate exposure in a cardiac healthy child, without cardiovascular risk factors. Kim Munk, Lise Gormsen, Won Yong Kim, and Niels Holmark Andersen Copyright © 2015 Kim Munk et al. All rights reserved. 17-Year-Old Boy with Renal Failure and the Highest Reported Creatinine in Pediatric Literature Sun, 14 Jun 2015 09:44:47 +0000 The prevalence of chronic kidney disease (CKD) is on the rise and constitutes a major health burden across the world. Clinical presentations in early CKD are usually subtle. Awareness of the risk factors for CKD is important for early diagnosis and treatment to slow the progression of disease. We present a case report of a 17-year-old African American male who presented in a life threatening hypertensive emergency with renal failure and the highest reported serum creatinine in a pediatric patient. A brief discussion on CKD criteria, complications, and potential red flags for screening strategies is provided. Vimal Master Sankar Raj, Jessica Garcia, and Roberto Gordillo Copyright © 2015 Vimal Master Sankar Raj et al. All rights reserved. The Combination of Gastroschisis, Jejunal Atresia, and Colonic Atresia in a Newborn Tue, 09 Jun 2015 16:06:37 +0000 We encountered a rare case of gastroschisis associated with jejunal atresia and colonic atresia. In our case, the jejunal atresia was not discovered for 27 days after the initial abdominal wall closure. The colonic atresia was not discovered for 48 days after initial repair of the gastroschisis secondary to the rarity of the disorder. Both types of atresia were repaired with primary hand-sewn anastomoses. Other than the prolonged parenteral nutrition and hyperbilirubinemia, our patient did very well throughout his hospital course. Based on our case presentation, small bowel atresia and colonic atresia must be considered in patients who undergo abdominal wall closure for gastroschisis with prolonged symptoms suggestive of bowel obstruction. Our case report also demonstrates primary enteric anastomosis as a safe, well-tolerated surgical option for patients with types of intestinal atresia. Zachary Bauman and Victor Nanagas Jr. Copyright © 2015 Zachary Bauman and Victor Nanagas Jr. All rights reserved.