Case Reports in Pediatrics http://www.hindawi.com The latest articles from Hindawi Publishing Corporation © 2015 , Hindawi Publishing Corporation . All rights reserved. A Case of Delayed Interval Delivery with a Successful Hospital Move Sun, 30 Aug 2015 12:53:58 +0000 http://www.hindawi.com/journals/cripe/2015/802097/ 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 http://www.hindawi.com/journals/cripe/2015/439239/ 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 http://www.hindawi.com/journals/cripe/2015/807309/ 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 http://www.hindawi.com/journals/cripe/2015/480507/ 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 http://www.hindawi.com/journals/cripe/2015/128409/ 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 http://www.hindawi.com/journals/cripe/2015/741540/ 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 http://www.hindawi.com/journals/cripe/2015/647139/ 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 http://www.hindawi.com/journals/cripe/2015/454860/ 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 http://www.hindawi.com/journals/cripe/2015/734516/ 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 http://www.hindawi.com/journals/cripe/2015/878716/ 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 http://www.hindawi.com/journals/cripe/2015/818961/ 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 http://www.hindawi.com/journals/cripe/2015/905097/ 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 http://www.hindawi.com/journals/cripe/2015/703960/ 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 http://www.hindawi.com/journals/cripe/2015/129098/ 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. Massive Gastric Hemorrhage due to Dieulafoy’s Lesion in a Preterm Neonate: A Case Report and Literature Review of the Lesion in Neonates Mon, 08 Jun 2015 08:14:51 +0000 http://www.hindawi.com/journals/cripe/2015/937839/ Dieulafoy’s lesion is an extremely rare cause of upper gastrointestinal bleeding in the neonatal age group. Till now, only 6 cases of Dieulafoy’s lesion in neonatal period have been reported in the international literature. Herein, we report an extremely rare case of Dieulafoy’s lesion in a preterm neonate. Christos Salakos, Panayiota Kafritsa, Yvelise de Verney, Ariadni Sageorgi, and Nick Zavras Copyright © 2015 Christos Salakos et al. All rights reserved. 45,X/47,XXX Mosaicism and Short Stature Sun, 07 Jun 2015 09:02:51 +0000 http://www.hindawi.com/journals/cripe/2015/263253/ We describe the case of a ten-year-old girl with short stature and 45,X/47,XXX genotype. She also suffered from vesicoureteric reflux and kidney dysfunction prior to having surgery on her ureters. Otherwise, she does not have any of the characteristics of Turner nor Triple X syndrome. It has been shown that this mosaic condition as well as other varieties creates a milder phenotype than typical Turner syndrome, which is what we mostly see in our patient. However, this patient is a special case, because she is exceptionally short. Overall, one cannot predict the resultant phenotype in these mosaic conditions. This creates difficulty in counseling parents whose children or fetuses have these karyotypes. Erica Everest, Laurie A. Tsilianidis, Anzar Haider, Douglas G. Rogers, Nouhad Raissouni, and Bahareh Schweiger Copyright © 2015 Erica Everest et al. All rights reserved. Successful Treatment of Candida parapsilosis Fungemia in Two Preterms with Voriconazole Thu, 04 Jun 2015 08:23:07 +0000 http://www.hindawi.com/journals/cripe/2015/402137/ Herein, we report two preterms with invasive candidiasis refractory to liposomal amphotericin B (AMB) treatment in spite of low MIC levels (MIC: 0.5 mcg/mL). Both of the patients’ blood cultures were persistently positive for C. parapsilosis despite high therapeutic doses (AMB: 7 mg/kg per day). After starting voriconazole blood cultures became negative and both of the patients were treated successfully without any side effects. In conclusion, although it is not a standard treatment in neonatal patients, our limited experience with these patients suggests that voriconazole appears to be a safe antifungal agent to be used in critically ill preterm infants with persistent fungemia despite AMB treatment. Emel Altuncu, Hulya Bilgen, Ahmet Soysal, and Eren Ozek Copyright © 2015 Emel Altuncu et al. All rights reserved. Short Stature in Chronic Kidney Disease Treated with Growth Hormone and an Aromatase Inhibitor Mon, 25 May 2015 13:51:55 +0000 http://www.hindawi.com/journals/cripe/2015/738571/ We describe an alternative strategy for management of severe growth failure in a 14-year-old child who presented with advanced chronic kidney disease close to puberty. The patient was initially treated with growth hormone for a year until kidney transplantation, followed immediately by a year-long course of an aromatase inhibitor, anastrozole, to prevent epiphyseal fusion and prolong the period of linear growth. Outcome was excellent, with successful transplant and anticipated complete correction of height deficit. This strategy may be appropriate for children with chronic kidney disease and short stature who are in puberty. Susan R. Mendley, Fotios Spyropoulos, and Debra R. Counts Copyright © 2015 Susan R. Mendley et al. All rights reserved. Postinjection Muscle Fibrosis from Lupron Mon, 25 May 2015 06:55:25 +0000 http://www.hindawi.com/journals/cripe/2015/938264/ We describe the case of a 6.5-year-old girl with central precocious puberty (CPP), which signifies the onset of secondary sexual characteristics before the age of eight in females and the age of nine in males as a result of stimulation of the hypothalamic-pituitary-gonadal axis. Her case is likely related to her adoption, as children who are adopted internationally have much higher rates of CPP. She had left breast development at Tanner Stage 2, adult body odor, and mildly advanced bone age. In order to halt puberty and maximize adult height, she was prescribed a gonadotropin releasing hormone analog, the first line treatment for CPP. She was administered Lupron (leuprolide acetate) Depot-Ped (3 months) intramuscularly. After her second injection, she developed swelling and muscle pain at the injection site on her right thigh. She also reported an impaired ability to walk. She was diagnosed with muscle fibrosis. This is the first reported case of muscle fibrosis resulting from Lupron injection. Erica Everest, Laurie A. Tsilianidis, Nouhad Raissouni, Tracy Ballock, Terra Blatnik, Anzar Haider, Douglas G. Rogers, and B. Michelle Schweiger Copyright © 2015 Erica Everest et al. All rights reserved. Orthosis Effects on the Gait of a Child with Infantile Tibia Vara Thu, 21 May 2015 16:03:26 +0000 http://www.hindawi.com/journals/cripe/2015/406359/ Infantile tibia vara (ITV) is an acquired form of tibial deformity associated with tibial varus and internal torsion. As there is currently insufficient data available on the effects of orthotics on gait parameters, this study aimed to document the influence of orthosis on walking. A male infant with bilateral tibia vara used orthoses for five months. Gait evaluations were performed pre- and posttreatment for both legs. The kinematic parameters were collected by using a motion analysis system. The orthotic design principle was used to correct the femur and tibia. Posttreatment gait parameters were improved compared to pretreatment parameters. After 5 months, there was remarkable change in the stance-phase degrees of frontal plane hip joint abduction and knee joint varus. We found that orthoses were an effective treatment for the infantile tibia vara gait characteristics in this patient. Full-time use of single, upright knee-ankle-foot orthosis with a drop lock knee joint and application of corrective forces at five points along the full length of the limb were effective. Serap Alsancak and Senem Guner Copyright © 2015 Serap Alsancak and Senem Guner. All rights reserved. Clinical and Imaging Features of a Congenital Midline Cervical Cleft in a Neonate: A Rare Anomaly Thu, 21 May 2015 13:01:48 +0000 http://www.hindawi.com/journals/cripe/2015/439596/ Congenital midline cervical cleft (CMCC) is a rare congenital anomaly. CMCC and its complications and treatment have been well described in ENT, dermatology, and pediatric surgery literature. However, to our knowledge, the imaging work-up has not been reported in the literature thus far. We present a case of CMCC in a neonate with description of clinical presentation and imaging features. Rachelle Goldfisher, Pritish Bawa, Zachary Ibrahim, and John Amodio Copyright © 2015 Rachelle Goldfisher et al. All rights reserved. Chronic Lipoid Pneumonia in a 9-Year-Old Child Revealed by Recurrent Chest Pain Thu, 21 May 2015 11:56:18 +0000 http://www.hindawi.com/journals/cripe/2015/402926/ Lipoid pneumonia in children is a rare disorder due to accumulation of fatty oily material in the alveoli and usually associated with an underlying condition. In absence of obvious context, diagnosis remains difficult with nonspecific clinical and radiological features. We report the first case of voluntary chronic aspiration of olive oil responsible for exogenous lipoid pneumonia, in a previously healthy 9-year-old boy. Clinical presentation was atypical; LP was revealed by isolated chest pain. We discuss radiological and bronchial alveolar lavage characteristics suggestive of lipoid pneumonia. Conclusion. Lipoid pneumonia is a disease to be reminded of in children, which can occur with original findings in terms of etiology and clinical presentation. A. Hochart, C. Thumerelle, L. Petyt, C. Mordacq, and A. Deschildre Copyright © 2015 A. Hochart et al. All rights reserved. Rahnella aquatilis Sepsis in a Premature Newborn Mon, 18 May 2015 09:38:31 +0000 http://www.hindawi.com/journals/cripe/2015/860671/ Rahnella aquatilis is an infrequently isolated Gram-negative rod within the Enterobacteriaceae family. The organism’s natural habitat is water. The organism is rarely isolated from clinical specimens and it seldom causes infection in immunocompetent individuals. Here we present a one-month-old boy who was born prematurely at 27th week of gestation by cesarean section with a birth weight of 730 g. He developed sepsis caused by Rahnella aquatilis during the treatment for ventilator associated pneumonia due to Stenotrophomonas maltophilia with ciprofloxacin. He was successfully treated with a combination of amikacin plus meropenem. Although R. aquatilis is one of the saprophyticus organisms, it may cause life-threatening infection in newborn. Canan Kuzdan, Ahmet Soysal, Hülya Özdemir, Şenay Coşkun, İpek Akman, Hülya Bilgen, Eren Özek, and Mustafa Bakır Copyright © 2015 Canan Kuzdan et al. All rights reserved. Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome Sun, 17 May 2015 09:51:51 +0000 http://www.hindawi.com/journals/cripe/2015/385910/ We report the first genetically proven case of COACH syndrome from the Indian subcontinent in a 6-year-old girl who presented with typical features of Joubert syndrome along with hepatic involvement. Mutation analysis revealed compound heterozygous missense mutation in the known gene TMEM67 (also called MKS3). Rama Krishna Sanjeev, Seema Kapoor, Manisha Goyal, Rajiv Kapur, and Joseph Gerard Gleeson Copyright © 2015 Rama Krishna Sanjeev et al. All rights reserved. Acute Kidney Injury Complicated Epstein-Barr Virus Infection in Infancy Mon, 04 May 2015 13:14:32 +0000 http://www.hindawi.com/journals/cripe/2015/848959/ Infectious mononucleosis is an acute lymphoproliferative disorder caused by the Epstein-Barr virus (EBV) and seen most commonly in children and young adults. Clinical presentation of the disease is characterized by fever, tonsillopharyngitis, lymphadenopathy, and hepatosplenomegaly, whereas serological findings of this benign disorder include positive heterophilic antibody formation (transient increase in heterophilic antibodies) and prominence of hematological lymphocytosis of more than 10% of atypical lymphocytes. An EBV infection is usually asymptomatic in childhood, but acute kidney injury can be a rare complication during its course. Most cases recover from the disease completely. Early recognition of EBV infection and estimation of its complication are important for its prognosis. In light of previous literature, we discuss the case evaluated as an EBV infection complicated by acute kidney injury in early childhood and results of tubulointerstitial nephritis shown on a renal biopsy that was later diagnosed as an EBV infection by serological examination. Gamze Ozgurhan, Mustafa Ozcetin, Aysel Vehapoglu, Zeynep Karakaya, and Fatih Aygun Copyright © 2015 Gamze Ozgurhan et al. All rights reserved. Hyperinsulinemic Hypoglycaemia in a Turner Syndrome with Ring (X) Wed, 29 Apr 2015 11:29:11 +0000 http://www.hindawi.com/journals/cripe/2015/561974/ Hyperinsulinemic hypoglycaemia (HH) is a group of clinically, genetically, and morphologically heterogeneous disorders characterized by dysregulation of insulin secretion by pancreatic beta cells. HH can either be congenital genetic hyperinsulinism or associated with metabolic disorder and syndromic condition. Early identification and meticulous management of these patients is vital to prevent neurological insult. There are only three reported cases of HH associated with a mosaic, r(X) Turner syndrome. We report the four cases of an infant with a mosaic r(X) Turner genotype and HH responsive to diazoxide therapy. Michela Cappella, Vanna Graziani, Antonella Pragliola, Alberto Sensi, Khalid Hussain, Claudia Muratori, and Federico Marchetti Copyright © 2015 Michela Cappella et al. All rights reserved. NIV-Helmet in Severe Hypoxemic Acute Respiratory Failure Mon, 27 Apr 2015 13:35:50 +0000 http://www.hindawi.com/journals/cripe/2015/456715/ Noninvasive ventilation (NIV) is a method to be applied in acute respiratory failure, given the possibility of avoiding tracheal intubation and conventional ventilation. A previous healthy 5-month-old boy developed low-grade intermittent fever, flu-like symptoms, and dry cough for 3 days. On admission, he showed severe respiratory distress with SpO2/FiO2 ratio of 94. Subsequent evaluation identified an RSV infection complicated with an increase of inflammatory parameters (reactive C protein 15 mg/dL). Within the first hour after NIV-helmet CPAP SpO2/FiO2 ratio increased to 157. This sustained improvement allowed the continuing of this strategy. After 102 h, he was disconnected from the helmet CPAP device. The NIV use in severe hypoxemic acute respiratory failure should be carefully monitored as the absence of clinical improvement has a predictive value in the need to resume to intubation and mechanical ventilation. We emphasize that SpO2/FiO2 ratio is a valuable monitoring instrument. Helmet interface use represents a more comfortable alternative for providing ventilatory support, particularly to small infants, which constitute a sensitive group within pediatric patients. Joana Martins, P. Nunes, C. Silvestre, C. Abadesso, H. Loureiro, and H. Almeida Copyright © 2015 Joana Martins et al. All rights reserved. Two Mutations in Surfactant Protein C Gene Associated with Neonatal Respiratory Distress Mon, 27 Apr 2015 13:04:59 +0000 http://www.hindawi.com/journals/cripe/2015/591783/ Multiple mutations of surfactant genes causing surfactant dysfunction have been described. Surfactant protein C (SP-C) deficiency is associated with variable clinical manifestations ranging from neonatal respiratory distress syndrome to lethal lung disease. We present an extremely low birth weight male infant with an unusual course of respiratory distress syndrome associated with two mutations in the SFTPC gene: C43-7G>A and 12T>A. He required mechanical ventilation for 26 days and was treated with 5 subsequent doses of surfactant with temporary and short-term efficacy. He was discharged at 37 weeks of postconceptional age without any respiratory support. During the first 16 months of life he developed five respiratory infections that did not require hospitalization. Conclusion. This mild course in our patient with two mutations is peculiar because the outcome in patients with a single SFTPC mutation is usually poor. Anna Tarocco, Elisa Ballardini, Maria Raffaella Contiero, Giampaolo Garani, and Silvia Fanaro Copyright © 2015 Anna Tarocco et al. All rights reserved. An Interesting Fistula Tract Presenting with Recurrent Gluteal Abscess: Instructive Case Sun, 05 Apr 2015 08:45:17 +0000 http://www.hindawi.com/journals/cripe/2015/682842/ A fistula extending from the gluteus to penis is an extremely rare entity. In this paper, we have highlighted novel variant of congenital penile to gluteal fistula complicated with gluteal and penoscrotal abscess in a previously healthy boy. A fistulous tract extending from the gluteus to penis has been shown by fistulogram. Bleomycin has been used in fistula tract with successful results in our patient. Gulsum Iclal Bayhan, Ozge Metin, Burak Ardicli, Ayse Karaman, and Gonul Tanir Copyright © 2015 Gulsum Iclal Bayhan et al. All rights reserved. Ectopic Lingual Thyroid Sun, 29 Mar 2015 11:12:37 +0000 http://www.hindawi.com/journals/cripe/2015/252357/ Ectopy of the thyroid gland is an abnormal embryological development. Its occurrence in children is rare. In this study, we report the case of a 12-year-old girl that presented with dysphagia and nocturnal dyspnea. Magnetic resonance imaging confirmed the presence of a lingual thyroid. Thyroid scintigraphy showed intense and elective uptake of radiotracer at the base of the tongue. Hormonal tests revealed hypothyroidism. Treatment consisted of opotherapy based on levothyroxine. Evolution has been favourable and the patient showed significant improvement with reduction of the dyspnea and the dysphagia and normalization of thyroid hormone tests. Khaled Khamassi, Habib Jaafoura, Fahmi Masmoudi, Rim Lahiani, Lobna Bougacha, and Mamia Ben Salah Copyright © 2015 Khaled Khamassi et al. All rights reserved.