Case Reports in Pediatrics The latest articles from Hindawi Publishing Corporation © 2016 , Hindawi Publishing Corporation . All rights reserved. A Case of Thyroid Storm Associated with Cardiomyopathy and Poststreptococcal Glomerulonephritis Thu, 27 Oct 2016 13:34:32 +0000 Thyroid storm has a high mortality rate and is often associated with a precipitating factor such as intercurrent illness or infection. It is rare in pediatric patients. Cardiac disease in hyperthyroidism mostly manifests itself as tachycardia but more serious cardiac findings have also been described. A 5-year-old male with recent strep throat infection presented with dilated cardiomyopathy, hematuria, and symptoms and lab findings consistent with severe hyperthyroidism. He was diagnosed with thyroid storm secondary to concurrent Graves’ disease and poststreptococcal glomerulonephritis (PSGN). After starting the treatment with methimazole and a beta-blocker, his cardiac disease gradually improved and the PSGN resolved over time. There are no specific pediatric criteria for thyroid storm. Adult criteria can be difficult to apply to pediatric cases. Criteria for diagnosis of thyroid storm are less clear for pediatric patients. Dilated cardiomyopathy is a rare cardiac manifestation of hyperthyroidism. PSGN is due to glomerular immune complexes and can complicate group A strep infection. Providers should be aware of cardiac disease as a complication of hyperthyroidism. PSGN should not mechanistically be related to hyperthyroidism but can precipitate the signs of thyroid storm such as hypertension. This association has not been previously reported in the literature. Lisa J. Underland, Gerson A. Vallencia Villeda, Abhijeet Pal, and Leslie Lam Copyright © 2016 Lisa J. Underland et al. All rights reserved. A Swelling over Sternum in a Child: Reminder of an Uncommon Diagnosis Tue, 25 Oct 2016 11:18:47 +0000 Lack of awareness about isolated tubercular osteomyelitis of the sternum resulted in a delay in diagnosing the condition in an eleven-year-old girl who presented with a gradually increasing swelling over the sternum. Radiological, histological, and microbiological investigations helped diagnose the condition and the child responded well to antitubercular therapy (ATT) and surgical debridement. The report provides a brief description about the various management options available. Pradnya Joshi, Sandeep B. Bavdekar, and Sushma U. Save Copyright © 2016 Pradnya Joshi et al. All rights reserved. Recurring Facial Erythema in an Infant Mon, 24 Oct 2016 13:42:06 +0000 Causes of facial rashes and erythema in infants are many but rarely only happen during feeding times which are commonly and sometimes wrongly attributed to food allergy. There is a rare condition called Auriculotemporal nerve syndrome that is characterized by recurrent episodes of gustatory facial flushing and sweating along the cutaneous distribution of Auriculotemporal nerve: the so-called Frey syndrome. This condition is most frequently observed in adults usually after parotid surgery. It is rare in children and is mostly attributed to forceps assisted delivery. It can also be misinterpreted as food allergy. Here we report a case of an infant with Frey syndrome without any history of perinatal trauma, which was considered initially as food allergy and highlights the importance of distinguishing it from food allergy. Sam Hassan and Mary Jacqueline Saviour Copyright © 2016 Sam Hassan and Mary Jacqueline Saviour. All rights reserved. Minimally Invasive Treatment of Mirizzi Syndrome, a Rare Cause of Cholestasis in Childhood Mon, 24 Oct 2016 07:39:24 +0000 Mirizzi syndrome is the compressive blockage of the cystic or choledochal duct caused by a biliary stone occupying the cystic canal or Hartmann’s pouch. This occurrence is rare and, in English literature, three cases defined in children have been observed. In order to draw attention to this rare occurrence, we preferred a 14-year-old male patient with Mirizzi syndrome. In this case, ERCP was performed preoperatively and the diagnosis was carried out with the help of clear visualisation and identification of the tissue structures as well as the stent placed in bile duct; so we protected the patient from the possible iatrogenic injury occurring during surgery. Ahmet Ali Tuncer, Sezgin Yilmaz, Mustafa Yavuz, and Salih Çetinkurşun Copyright © 2016 Ahmet Ali Tuncer et al. All rights reserved. A Child with Severe Malaria Presenting with Acute Surgical Abdomen (Duodenal Perforation) Sun, 23 Oct 2016 09:57:26 +0000 Plasmodium falciparum, the commonest cause of severe malaria in children, is an important cause of mortality in developing nations like Nepal. Duodenal perforation in a case of complicated malaria, although a rare entity, can occur in children. Early diagnosis, proper medical treatment, and early surgical repair can be a lifesaving measure in such cases. Here, we report a case of a 5-year-old male child with falciparum malaria complicated by a duodenal perforation that was successively managed with appropriate antimalarial drugs and early surgical repair. Tika Ram Bhandari, Sudha Shahi, Rajesh Poudel, and Nagendra Chaudhary Copyright © 2016 Tika Ram Bhandari et al. All rights reserved. A Dog Is a Doctor’s Best Friend: The Use of a Service Dog as a Perioperative Assistant Sun, 23 Oct 2016 09:31:41 +0000 Service dogs are beneficial in providing assistance to people with multiple types of disabilities and medical disorders including visual impairment, physical disabilities, seizure disorders, diabetes, and mental illness. Some service animals have been trained as a screening tool for cancer. We review a case involving a 6-year-old female with a history of mast cell mediator release and immediate hypersensitivity due to the urticaria pigmentosa variant of cutaneous mastocytosis who underwent a cystourethroscopy. Her service dog, JJ, who would alert to mast cell mediator release, was used throughout the perioperative course as a means of anxiolysis and comfort and to monitor for mast cell mediator release. This case presents an example of a service dog used in a family-care model in the field of anesthesiology and provides a unique example of using a service dog as an additional monitor to alert the care team for impending mast cell mediator release. Shannon Tew and Brad M. Taicher Copyright © 2016 Shannon Tew and Brad M. Taicher. All rights reserved. Mitochondrial Disorder Aggravated by Metoprolol Thu, 20 Oct 2016 08:41:45 +0000 Beta-adrenergic blocking agents or beta-blockers are a class of medications used to treat cardiac arrhythmias and systemic hypertension. In therapeutic dosages, they have known adverse outcomes that can include muscular fatigue and cramping, dizziness, and dyspnea. In patients with mitochondrial disease, these effects can be amplified. Previous case reports have been published in the adult population; however, their impact in pediatric patients has not been reported. We describe a pediatric patient with a mitochondrial disorder who developed respiratory distress after metoprolol was prescribed for hypertension. As the patient improved with discontinuation of medication and no alternative etiology was found for symptoms, we surmise that administration of metoprolol aggravated his mitochondrial dysfunction, thus worsening underlying chest wall weakness. Cheryl Samuels, Mary Kay Koenig, Mariana Hernandez, Aravind Yadav, and Ricardo A. Mosquera Copyright © 2016 Cheryl Samuels et al. All rights reserved. A Fatal Case of Congenital Langerhans Cell Histiocytosis with Disseminated Cutaneous Lesions in a Premature Neonate Wed, 19 Oct 2016 07:14:37 +0000 Background. The outcome of neonates with congenital cutaneous Langerhans cell histiocytosis (LCH) is variable. Observations. We report a case of LCH in a female premature neonate born at 33-week gestation. She had disseminated cutaneous lesions, which consisted of hemorrhagic papules and vesicles, with sparse healthy skin areas, and the hands and feet were contracted with scarring and blackened. She was in respiratory failure although no apparent pulmonary or bone lesions on X-rays were noted. Skin biopsy confirmed a diagnosis of LCH due to observation of CD1a+ Langerhans cells, which lacked expression of E-cadherin and CD56. The patient died 57 hours after birth. Conclusions. Based on this case and the literature survey, the outcome of premature babies with congenital cutaneous LCH lesions is noted to be unfavorable, with the majority of such cases suffering from multisystem disease. Michio Inoue, Yoko Tomita, Tsuyoshi Egawa, Tomoaki Ioroi, Masaaki Kugo, and Shinsaku Imashuku Copyright © 2016 Michio Inoue et al. All rights reserved. The Usefulness of T1-Weighted Magnetic Resonance Images for Diagnosis of Acute Leukemia Manifesting Musculoskeletal Symptoms prior to Appearance of Peripheral Blood Abnormalities Tue, 18 Oct 2016 15:57:34 +0000 The patients with acute leukemia occasionally present with musculoskeletal symptoms initially, including bone pain, joint pain, muscular pain, and functional impairment. Without abnormal findings of peripheral blood cell counts or smear, the correct diagnosis tends to be delayed. Magnetic resonance imaging is often performed to examine musculoskeletal abnormalities; it can simultaneously reveal the bone marrow composition with high anatomical resolution and excellent soft tissue contrast. We present 4 pediatric patients who were initially diagnosed with acute pyogenic osteomyelitis or arthritis, based on the elevated white blood cell counts and/or C-reactive protein in addition to the localized high signal intensity on T2-weighted magnetic resonance images. Finally, they were diagnosed with B-cell precursor acute lymphoblastic leukemia by bone marrow examination. The period between the onset of musculoskeletal symptoms and the diagnosis of leukemia ranged from 20 days to 6 months. In all cases, the T1-weighted magnetic resonance images taken prior to detection of peripheral blood abnormality revealed diffuse low signal intensity of the bone marrow in regions adjacent or contralateral to localized musculoskeletal symptoms. These findings should raise the suspicion of leukemia even without abnormalities in peripheral blood. Toshihide Yoshikawa, Akihiko Tanizawa, Koji Suzuki, Nanae Tanaka, Taihei Hayashi, Masayo Tsuda, Genrei Ohta, Naoko Kikuchi, Hiroyuki Okamoto, Takehiko Sakai, Yoshihiro Taniguchi, and Yusei Ohshima Copyright © 2016 Toshihide Yoshikawa et al. All rights reserved. Fallopian Tube Torsion as a Cause of Acute Pelvic Pain in Adolescent Females Thu, 13 Oct 2016 15:17:54 +0000 Purpose. Torsion of the fallopian tube, involving hydatids of Morgagni, though a rare cause of acute pelvic pain in young girls, can pose significant risks to future fertility. Tubal torsion may present as a diagnostic dilemma since the ovary itself usually appears normal on ultrasound. Thus, surgical intervention may be delayed which can lead to worsening necrosis and result in the need for resection of the affected tube. Methods. We reviewed two cases of fallopian tube torsion associated with hydatids of Morgagni in adolescent females. Results. The patients were premenarchal in both cases, aged 10 and 13 years. Both presented with acute clinical signs of ovarian torsion but ultrasound showed the ovary itself to be normal with an adjacent cystic structure. In both cases, the fallopian tube was detorsioned laparoscopically and preserved. The associated cyst was excised in one case and marsupialized in the other. Conclusions. We propose that prompt recognition and operative management of this relatively uncommon source of pelvic pain may prevent unnecessary tubal resection and improve long-term fertility in this population. Claudia Mueller and Sandra Tomita Copyright © 2016 Claudia Mueller and Sandra Tomita. All rights reserved. Normocomplementaemic Urticarial Vasculitis in a 19-Month-Old Girl Thu, 13 Oct 2016 14:08:57 +0000 Urticaria is common in children. Urticarial vasculitis (UV) is a potentially more serious, rare variant. The youngest reported case was 12 months of age. A systemically well, 19-month-old girl presented with her mother who was concerned about the development of a rash. On presentation, the child had normal vital signs, was alert, and was well and playing with toys. There was a widespread urticarial rash (raised, pruritic, and erythematous) that was most apparent on the trunk with minimal rash on the legs. Overlying this urticarial rash in a similar distribution was a blotchy, palpable purpuric rash and associated hyperpigmentation. Investigations revealed a normal level of haemoglobin, white cells, platelets, and electrolytes. Renal function, international normalised ratio, and activated partial thromboplastin time were all normal. There was no blood or protein in the urine. The erythrocyte sedimentation rate was mildly elevated at 19 mm/hour. Complement results (including C1q) obtained later were normal. This case is striking not only because of the rarity of UV in children but also due to the unique diagnostic and prognostic challenges that it raises. Peter Williams Copyright © 2016 Peter Williams. All rights reserved. Intraluminal Meckel’s Duplication Cyst Causing Bowel Obstruction in an Infant: A Role for Laparotomy Thu, 13 Oct 2016 09:04:25 +0000 This report describes a two-month-old girl who presented with signs and symptoms of a distal small bowel obstruction. She underwent an abdominal ultrasound that revealed a right lower quadrant cystic mass. A Technetium-99 scan revealed increased activity in the right lower quadrant consistent with a Meckel’s diverticulum. Following a nondiagnostic laparoscopic evaluation, a laparotomy was performed to allow direct palpation of the small bowel and colon. Direct palpation of the ileum revealed a soft intraluminal mass at the ileocecal valve. The child underwent an ileocecectomy and anastomosis incorporating the intraluminal mass. Pathologic analysis revealed an intraluminal enteric duplication cyst containing ectopic gastric mucosa. This case represents the first report of such an entity in an infant. A discussion of the diagnostic and therapeutic aspects of the case and enteric duplication cysts is provided. Mitchell R. Ladd, Alejandro V. Garcia, Derek B. Allison, and Jeffrey R. Lukish Copyright © 2016 Mitchell R. Ladd et al. All rights reserved. Esophageal Perforation with Unilateral Fluidothorax Caused by Nasogastric Tube Mon, 10 Oct 2016 09:43:54 +0000 Preterm infants are highly susceptible to injuries following necessary and often life-saving medical interventions. Esophageal perforation is a rare, yet serious complication that can be caused by aerodigestive tract suction, endotracheal intubation, or nasogastric tube placement. We present the case of a neonate born at 23 weeks plus three days of gestation with chest radiography showing malposition of the nasogastric feeding tube and massive right-sided effusion of Iopamidol in the pleural cavity due to esophageal perforation. In addition, the article summarizes common signs and symptoms associated with esophageal perforation in infants and discusses diagnostic approaches. Lukas P. Mileder, Martin Müller, Friedrich Reiterer, Alexander Pilhatsch, Barbara Gürtl-Lackner, Berndt Urlesberger, and Wolfgang Raith Copyright © 2016 Lukas P. Mileder et al. All rights reserved. A Child with Local Lipohypertrophy following Recombinant Human Growth Hormone Administration Mon, 10 Oct 2016 08:11:50 +0000 Local lipohypertrophy due to recombinant human growth hormone (rhGH) administration is a rare phenomenon. Here, we report a case of an 11-year-old girl who presented with a paraumbilical swelling, approximately one year after the start of rhGH treatment for short stature due to the presumed diagnosis of partial growth hormone insensitivity. Ultrasound imaging revealed an asymmetric distribution of subcutaneous fat tissue at the rhGH administration site, indicating local lipohypertrophy. After sparing her routine injection site and alternating other sites, the swelling disappeared within 6 months. Although the precise cause of local lipohypertrophy resulting from rhGH administration is still unclear, it might be related to the presumed diagnosis of partial growth hormone insensitivity. Ilan J. N. Koppen, Roel Bakx, Chris C. de Kruiff, and A. S. Paul van Trotsenburg Copyright © 2016 Ilan J. N. Koppen et al. All rights reserved. Cystic Lung Disease in Down Syndrome: A Case Report and Literature Review Mon, 03 Oct 2016 08:42:16 +0000 Subpleural lung cysts (SPC) are seen in children with Down syndrome (DS). The incidence and the long term course of these lesions are not known. It is important for pediatricians and pediatric radiologists to be aware of these lung lesions since the DS patients’ longevity has increased and they have greater frequency to encounter the clinicians. Autopsy and the radiology series have shown that these lesions are often found in association with congenital heart disease, particularly the endocardial cushion defect and prematurity. Mathew George, John Amodio, and Haesoon Lee Copyright © 2016 Mathew George et al. All rights reserved. A Case of Infective Endocarditis and Pulmonary Septic Emboli Caused by Lactococcus lactis Tue, 27 Sep 2016 13:54:07 +0000 Infective endocarditis is a rare condition in children with normal hearts. We present here a case of previously healthy eleven-year-old girl with infective endocarditis and pulmonary septic emboli caused by a very rare bacterial etiology (Lactococcus lactis). Identification of this pathogen was only made by polymerase chain reaction. Bshara Mansour, Adib Habib, Nazih Asli, Yuval Geffen, Dan Miron, and Nael Elias Copyright © 2016 Bshara Mansour et al. All rights reserved. Bronchial Leech Infestation in a 15-Year-Old Female Mon, 26 Sep 2016 16:37:40 +0000 Foreign body aspiration (FBA) is a common incidence in young children. Leeches are rarely reported as FBA at any age. This study describes a 15-year-old female who presented with hemoptysis, hematemesis, coughs, melena, and anemia seven months prior to admission. Chest X-ray showed a round hyperdensity in the right lower lobe. A chest computed tomography (CT) demonstrated an area of consolidation and surrounding ground glass opacities in the right lower lobe. Hematological investigations revealed anemia. Finally, bronchoscopy was performed and a 5 cm leech was found within the right bronchus and removed by forceps and a Dormia basket. Mohammad Ashkan Moslehi, Mohammad Hadi Imanieh, and Ali Adib Copyright © 2016 Mohammad Ashkan Moslehi et al. All rights reserved. Airway Management in a Patient with Wolf-Hirschhorn Syndrome Mon, 26 Sep 2016 13:49:50 +0000 We present a case of a 3-month-old female with Wolf-Hirschhorn syndrome (WHS) undergoing general anesthesia for laparoscopic gastrostomy tube placement with a focus on airway management. WHS is a rare 4p microdeletion syndrome resulting in multiple congenital abnormalities, including craniofacial deformities. Microcephaly, micrognathia, and glossoptosis are common features in WHS patients and risk factors for a pediatric airway that is potentially difficult to intubate. We discuss anesthesia strategies for airway preparation and management in a WHS patient requiring general anesthesia with endotracheal intubation. John F. Gamble, Dinesh J. Kurian, Andrea G. Udani, and Nathaniel H. Greene Copyright © 2016 John F. Gamble et al. All rights reserved. Mitochondrial Disease as a Cause of Neonatal Hemophagocytic Lymphohistiocytosis Mon, 26 Sep 2016 13:48:07 +0000 Diagnosis of mitochondrial respiratory chain disorder (MRCD) is often difficult. Its pathogenesis is still unclear. We diagnosed MRCD by measuring the activity of the mitochondrial respiratory chain enzyme, and the patient also had hemophagocytic lymphohistiocytosis (HLH). A preterm female infant was born at 34 weeks of gestation. On day 6, HLH was revealed by bone marrow aspiration. She died on day 10 due to uncontrollable HLH. An autopsy was performed, and we measured the activity of the mitochondrial respiratory chain enzyme in the liver, muscle, and heart. The activity of complex I was decreased in all tissues. As we could not prove another origin of the HLH, she was diagnosed as having HLH caused by MRCD. It is useful to measure the activity of the mitochondrial respiratory chain enzyme for diagnosing MRCD. MRCD, which has a severe clinical course, may be related to HLH. Kazumasa Fuwa, Mitsuru Kubota, Masami Kanno, Hiroshi Miyabayashi, Ken Kawabata, Keiichi Kanno, and Masaki Shimizu Copyright © 2016 Kazumasa Fuwa et al. All rights reserved. Galactocele in a Male Infant with Transient Hyperprolactinaemia: An Extremely Rare Cause of Breast Enlargement in Children Mon, 26 Sep 2016 06:49:26 +0000 Galactocele is a rare breast condition in infants. Here, we report a 16-month-old boy who developed progressive left breast enlargement. Ultrasonography and magnetic resonance imaging revealed a 4 cm cystic lesion at left breast. Hormonal assay showed transient hyperprolactinaemia with no known cause identified. Subsequently, galactocele was confirmed on histopathological examination after complete surgical excision. No recurrence was observed on regular follow-up. C. T. Lau, K. K. Y. Wong, and P. Tam Copyright © 2016 C. T. Lau et al. All rights reserved. Use of Zoledronic Acid in Paediatric Craniofacial Fibrous Dysplasia Thu, 22 Sep 2016 16:33:54 +0000 We describe a case of a paediatric patient affected by mandibular fibrous dysplasia (FD) with severe and chronic pain who was successfully treated with zoledronic acid (ZOL): a third-generation bisphosphonate. Further research is needed to assess its safety and efficacy as a treatment option for FD in the paediatric population. Chiara Di Pede, Sabrina Congedi, Sara Rossin, Antuan Divisic, Alesandra De Gregorio, Caterina Agosto, Igor Catalano, Alessandro Mazza, Leonardo Sartori, Stefano Masiero, and Franca Benini Copyright © 2016 Chiara Di Pede et al. All rights reserved. Pyoderma Gangrenosum: A Rare Cause of Cutaneous Ulceration and One Easily Misdiagnosed Wed, 21 Sep 2016 12:19:16 +0000 Pyoderma gangrenosum (PG) is a rare inflammatory neutrophilic dermatosis often misdiagnosed. It is uncommon in infants and children accounting for 4% of cases. A one-year-old male in paediatric ICU ventilated for bronchopneumonia was referred with ulcerated areas on his neck and axilla corresponding to sites of recent removal of central and arterial lines. Examination revealed areas of deep ulceration with violaceous undermined borders in keeping with PG. This was supported by a skin biopsy showing a neutrophilic infiltrate in the deeper dermis. Topical clobetasol propionate was commenced and a dramatic improvement within 24 hours noted. Blood results showed a leucocytosis of 29.7; a differential WCC showed toxic granulation in neutrophils with myeloid left shift; immunoglobulins showed elevated IgG 23 and IgA 4.86. The elevated WCC made us consider a leukaemic trigger; however, they settled with treatment of the underlying infection. PG in children is more likely to have an atypical distribution involving the head and neck (26.6%) or buttocks (15%). An interesting feature in this case is the presence of pathergy, a term used to describe the induction or exacerbation of PG at sites of iatrogenic or incidental trauma. It is seen in 31% of patients with PG. Wedad Abdelrahman, Maureen Y. Walsh, Susannah E. Hoey, and Donal O’Kane Copyright © 2016 Wedad Abdelrahman et al. All rights reserved. Melanocortin-4 Receptor Deficiency Phenotype with an Interstitial 18q Deletion: A Case Report of Severe Childhood Obesity and Tall Stature Wed, 21 Sep 2016 11:15:39 +0000 Childhood obesity is a growing health concern, associated with significant physical and psychological morbidity. Childhood obesity is known to have a strong genetic component, with mutations in the melanocortin-4 receptor (MC4R) gene being the most common monogenetic cause of obesity. Over 166 different MC4R mutations have been identified in persons with hyperphagia, severe childhood obesity, and increased linear growth. However, it is unclear whether the MC4-R deficiency phenotype is due to haploinsufficiency or dominant-negative effects by the mutant receptor. We report the case of a four-and-a-half-year-old boy with an interstitial deletion involving the long arm of chromosome 18 (46,XY,del(18)(q21.32q22.1)) encompassing the MC4R gene. This patient presented with tall stature and hyperphagia within his first 18 months of life leading to significant obesity. This case supports haploinsufficiency of MC4-R as it describes a MC4-R deficiency phenotype in a patient heterozygous for a full MC4R gene deletion. The intact functional allele with MC4-R haploinsufficiency has the potential to favor a therapeutic response to gastric surgery. Currently, small molecule MC4-R agonists are under development for pharmacologic therapy. Sarah Abdullah, William Reginold, Courtney Kiss, Karen J. Harrison, and Jennifer J. MacKenzie Copyright © 2016 Sarah Abdullah et al. All rights reserved. ALTE and Feeding Intolerance as a Presentation of Double Aortic Arch Sun, 18 Sep 2016 10:54:21 +0000 Many children who are admitted to pediatric hospitals with the chief complaint of apparent life-threatening event (ALTE) are, in fact, well appearing by the time the inpatient medical team evaluates the patient. This presents a diagnostic and therapeutic challenge. We describe a case of a six-month-old full-term female presenting with an ALTE and found to have a double aortic arch, a congenital anomaly that usually presents with a more progressive onset of symptoms such as chronic cough, positional stridor, and feeding difficulties. This case highlights the importance of maintaining a broad differential in a patient presenting with findings of tracheoesophageal pathology on clinical exam. Rekha Krishnasarma, Liza Green Golan Mackintosh, and Francine Bynum Copyright © 2016 Rekha Krishnasarma et al. All rights reserved. Right Atrial Appendage Aneurysm in a Newborn Diagnosed with Fetal Echocardiography Thu, 15 Sep 2016 13:31:41 +0000 Right atrial appendage aneurysm is a very rare condition which can be asymptomatic or can cause arrhythmia or life-threatening thromboembolism. We report a case of newborn with right atrial appendage aneurysm who was diagnosed with fetal echocardiography. Anticoagulant therapy was applied to prevent thromboembolism and he is still going on follow-up without any complaint. Helen Bornaun, Elif Yartaşı Tik, Gonca Keskindemirci, Ali Ekiz, Kazım Öztarhan, Reyhan Dedeoğlu, and Merih Çetinkaya Copyright © 2016 Helen Bornaun et al. All rights reserved. Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality Thu, 08 Sep 2016 13:14:15 +0000 Introduction. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is very rare; it is even more rare to find the presence of a double monoclonal chromosomal abnormality. Objective. To report a unique case of double monoclonal chromosomal abnormality with trisomy of chromosome 21 and an X ring chromosome in all cells studied; no previous report has been found. Case Report. Female, 28 months old, with pathological short stature from birth, with the following dysmorphic features: tilted upward palpebral fissures, short neck, brachycephaly, and low-set ears. During the neonatal period, the infant presented generalized hypotonia and lymphedema of hands and feet. Karyotype showed 47,X,r(X),+21 [30]. Conclusion. Clinical features of both Down and Turner syndromes were found, highlighting short stature that has remained below 3 score from birth to the present, associated with delayed psychomotor development. G-banded karyotype analysis in peripheral blood is essential for a definitive diagnosis. Gioconda Manassero-Morales, Denisse Alvarez-Manassero, and Alfredo Merino-Luna Copyright © 2016 Gioconda Manassero-Morales et al. All rights reserved. Management of Ankyloglossia and Breastfeeding Difficulties in the Newborn: Breastfeeding Sessions, Myofunctional Therapy, and Frenotomy Tue, 30 Aug 2016 15:51:48 +0000 The problems of suction in newborns give rise to multiple consequences for both the mother and the newborn. The objective of this paper is to present a case of ankyloglossia (“tongue-tie”) and the suction problems that were treated by a multidisciplinary team. The subject is a 17-day-old male patient, with ankyloglossia and suction problems during breastfeeding (pain in the breastfeeding mother, poor weight gain, and long breastfeeds). The patient followed the circuit established in our centre between the services of Oral and Maxillofacial Surgery and Breastfeeding and Speech Therapy and Orofacial Rehabilitation (CELERE). The evolution following the breastfeeding sessions, the myofunctional stimulation, and the lingual frenotomy was very favourable, thereby solving the suction problems that the newborn presented. All our patients receive breastfeeding sessions and myofunctional therapy as treatment. We know that a frenotomy is not always necessary and we believe that the stimulation of sucking before and after the surgical intervention is important in order to improve the final result. Elvira Ferrés-Amat, Tomasa Pastor-Vera, Paula Rodríguez-Alessi, Eduard Ferrés-Amat, Javier Mareque-Bueno, and Eduard Ferrés-Padró Copyright © 2016 Elvira Ferrés-Amat et al. All rights reserved. Congenital Malaria due to Plasmodium Vivax Infection in a Neonate Mon, 29 Aug 2016 09:58:18 +0000 Although malaria is endemic in India, congenital malaria is not very common. Congenital malaria is a very rare condition in both endemic and nonendemic areas. We report a case of congenital malaria in a six-day-old neonate with fever and splenomegaly. The diagnosis was picked up accidentally on a peripheral smear examination. Congenital malaria should be kept as differential diagnosis of neonatal sepsis. Timely detection of this condition could lead to early diagnosis and treatment, thereby preventing neonatal mortality. Ravi Bhatia, Dinesh Rajwaniya, and Priti Agrawal Copyright © 2016 Ravi Bhatia et al. All rights reserved. High Flow Priapism in a Pediatric Patient after Circumcision with Dorsal Penile Nerve Block Sun, 28 Aug 2016 08:36:15 +0000 We report the first documented case of high flow priapism after circumcision with dorsal penile nerve block. A 7-year-old male who had undergone circumcision three years before presented to our institution with a 3-year history of persistent nonpainful erections. Workup revealed a high flow priapism and, after discussion of the management options, the patient’s family elected continued observation. Michael A. Granieri, Joseph J. Fantony, and Jonathan C. Routh Copyright © 2016 Michael A. Granieri et al. All rights reserved. Empedobacter brevis Meningitis in a Neonate: A Very Rare Case of Neonatal Meningitis and Literature Review Thu, 25 Aug 2016 17:03:40 +0000 Empedobacter brevis is gram-negative bacilli that belongs to Flavobacteriaceae family. It was previously known with name of Flavobacterium breve. The reservoir of these bacteria is soil, plants, water, food, hospital water sources, including incubators, sinks, faucets, tap water, hemodialysis systems, saline solutions, and other pharmaceutical solutions. We report a case of term female newborn, admitted with complaint of respiratory distress developing soon after birth and developed clinical features of sepsis at age of 92 hours of postnatal life. The sepsis screen was positive and blood culture and cerebrospinal fluid showed growth of Empedobacter brevis that was resistant to multiple antibiotics. The neonate was treated with appropriate antibiotics and was discharged successfully. The novelty of the case report is that this is the first case report of neonatal sepsis caused by Empedobacter brevis. Deepak Sharma, Ankur Patel, Priyanka Soni, Pradeep Sharma, and Basudev Gupta Copyright © 2016 Deepak Sharma et al. All rights reserved.