Case Reports in Pediatrics The latest articles from Hindawi © 2017 , Hindawi Limited . All rights reserved. Propylene Glycol Toxicity in Adolescent with Refractory Myoclonic Status Epilepticus Sun, 26 Feb 2017 08:03:23 +0000 Propylene glycol (PG) is a solvent commonly used in medications that, while benign at low doses, may cause toxicity in adults and children at high doses. We describe a case and the physiologic sequelae of propylene glycol toxicity manifested in a critically ill adolescent male with refractory myoclonic status epilepticus aggressively treated with multiple PG-containing medications (lorazepam, phenobarbital, and pentobarbital)—all within accepted dosing guidelines and a total daily PG exposure previously recognized to be safe. Hemodynamic measurements by bedside echocardiography during clinical toxicity are also reported. Clinicians should have a high index of suspicion for propylene glycol toxicity in patients treated with PG-containing medications even when the total PG exposure is lower than currently accepted limits. Kara A. Bjur, Bryan C. Cannon, Anthony L. Fine, Matthew J. Ritter, Kerry E. Schueler, and Michael E. Nemergut Copyright © 2017 Kara A. Bjur et al. All rights reserved. Facial Asymmetry in a Crying Newborn: A Comparison of Two Cases and Review of Literature Sun, 26 Feb 2017 07:16:14 +0000 Facial asymmetry in a crying newborn can be due to a variety of different causes. Neonatal asymmetric crying facies (NACF) is a specific phenotype, which is often underrecognized. It is defined as asymmetry of the mouth and lips with grimacing or smiling, but a symmetric appearance at rest. NACF needs to be differentiated from complete facial palsy in a newborn, which can occur due to traumatic or developmental etiologies. Developmental causes can be present in isolation or may be a part of a recognized syndrome. While asymmetric lower lip depression may be seen in both conditions, complete facial palsy is also associated with upper and mid face deformities. We present a case of NACF and compare it to a case of facial palsy due to perinatal trauma. The purpose of this case series is to clarify some of the confusing nomenclatures and highlight the differences in the physical exam findings, diagnosis, and eventual prognosis of these cases. Shreyas Arya, Sunil K. Jain, and Carol J. Richardson Copyright © 2017 Shreyas Arya et al. All rights reserved. A Rare Adrenal Mass in a 3-Month-Old: A Case Report and Literature Review Thu, 23 Feb 2017 09:15:44 +0000 A three-month-old female infant presented with abdominal distention for 2 months. A large palpable mass in right upper quadrant was noted on physical exam. Abdominal ultrasound revealed a large heterogeneous mass with multiple cystic components. Mass was surgically excised and pathology was consistent with mature adrenal teratoma. Teratoma is a germ cell tumor mainly found in gonadal tissues. Occurrence of adrenal gland teratoma in children is very rare with less than 10 pediatric case reports in English literature. We present a rare case of primary adrenal tumor in an infant and a review of the literature. Ashish Garg, Elza Pollak-Christian, and Navneetha Unnikrishnan Copyright © 2017 Ashish Garg et al. All rights reserved. A Marked Response to Immunosuppressive Intervention for Abruptly Occurring Cardiac Complications in a Case of Juvenile Systemic Sclerosis Overlapped with Dermatomyositis Tue, 21 Feb 2017 12:32:12 +0000 Juvenile-onset systemic sclerosis (jSSc) is a rare condition, having unique characteristic features compared to adult-onset SSc. Although cardiac involvement (CI) is known as a leading cause of mortality overall in SSc, the importance of CI in jSSc has not been emphasized. Here we present a 13-year-old female with jSSc overlapped with dermatomyositis (DM) complicated CI. She developed skin thickness and induration, Raynaud’s phenomenon, digital pitting scars in fingertips, and skeletal myositis. Oral prednisolone and pulse methotrexate treatment led to the improvement of skin findings; however two weeks after the initiation she suddenly presented with muscle pain and dyspnea within a few days. Cardiac investigations then showed pericardiac effusion and diastolic dysfunction due to significant biventricular hypertrophy causing heart failure. As pericardiac effusion and exacerbation of skeletal myositis were evident, steroid pulse therapy was initiated. Unexpectedly, not only the myositis but also the CI including diastolic dysfunction was improved. She thereafter followed a favorable clinical course without reactivation of the CI or cardiac fibrosis. As a conclusion, close attention to CI must be paid in jSSc patients, especially when skeletal muscle involvement is evident and immunosuppressive therapy may be effective for CI in jSSc in cases where it occurs abruptly. Tsunehisa Nagamori, Yoichiro Yoshida, Hironori Takahashi, Hideharu Oka, Aya Kajihama, Koichi Nakau, Masaya Sugimoto, Masako Minami-Hori, and Hiroshi Azuma Copyright © 2017 Tsunehisa Nagamori et al. All rights reserved. Central Nervous System Involvement in Henoch-Schonlein Purpura in Children and Adolescents Tue, 21 Feb 2017 07:46:06 +0000 Central nervous system (CNS) involvement in Henoch-Schonlein purpura (HSP) is rare but poses diagnostic difficulties. The aim of the study was to establish the frequency of CNS involvement in HSP, to analyze its clinical characteristics and do a literature review. Medical files of patients with HSP admitted at the Department of Pediatrics, Plovdiv, were studied retrospectively for a five-year period (2009–2013). Diagnosis was based on the American College of Rheumatology criteria. Out of 112 children with HSP 1 case (0.9%) had CNS involvement presenting as Posterior Reversible Encephalopathy Syndrome (PRES), which may be a result of CNS vasculitis or arterial hypertension. It was an 8-year-old girl with atypical HSP which started with abdominal pain requiring surgery. On the third day after the operation a transient macular rash and arterial hypertension appeared, followed by visual disturbances, hemiconvulsive epileptic seizures, postictal hemiparesis, and confusion. Head CT showed occipital hypodense lesions and MRT-T2 hyperintense lesion in the left occipital lobe. The patient experienced a second similar episode after 2 weeks when palpable purpura had also appeared. Neurological symptoms and MRI resolved completely. HSP can be an etiological factor for PRES in childhood. Although PRES is a rare complication of HSP, clinicians must be aware of it and avoid diagnostic and therapeutic delays. Iliyana H. Pacheva, Ivan S. Ivanov, Krastina Stefanova, Elena Chepisheva, Lyubov Chochkova, Dafina Grozeva, Angelina Stoyanova, Stojan Milenkov, Penka Stefanova, and Anna Petrova Copyright © 2017 Iliyana H. Pacheva et al. All rights reserved. A Rare Cause of Childhood Cerebellitis-Influenza Infection: A Case Report and Systematic Review of Literature Mon, 20 Feb 2017 00:00:00 +0000 Acute cerebellitis is a benign neurologic condition generally caused by viral or bacterial infections. Influenza associated cerebellitis is extremely rare; a 6-year-old boy with acute cerebellitis, who presented with fever, vomiting, weakness, febrile seizure, and acute cerebellar features, is discussed in this article. Şule Gökçe, Zafer Kurugol, and Aslı Aslan Copyright © 2017 Şule Gökçe et al. All rights reserved. Hematemesis as Initial Presentation in a 10-Week-Old Infant with Eosinophilic Gastroenteritis Thu, 16 Feb 2017 00:00:00 +0000 Eosinophilic gastroenteritis is a rare condition characterized by eosinophilic inflammation in the gastrointestinal tract resulting in a variety of gastrointestinal symptoms. There is currently a dearth of information on this topic in the pediatric literature, as very few cases have been reported. In this report, we present a case of eosinophilic gastroenteritis in a 10-week-old patient with initial presenting symptom of hematemesis. To our knowledge, this is the youngest case reported in the literature and is unique in its initial presentation. Varun Shetty, Kayla E. Daniel, and Anil Kesavan Copyright © 2017 Varun Shetty et al. All rights reserved. Complete Obstruction of Endotracheal Tube in an Infant with a Retropharyngeal and Anterior Mediastinal Abscess Tue, 14 Feb 2017 00:00:00 +0000 Intraoperative ventilatory failure is not an uncommon complication; however, acute endotracheal obstruction by a foreign body or blood clot can be difficult to quickly discriminate from other causes. Once the diagnosis is made, quick action is needed to restore ventilation. The ultimate solution is to exchange the endotracheal tube; however, there can be other ways of resolving this in situations where reintubation would be difficult or unsafe. This case report discusses such an event in an infant with multiple airway challenges including a retropharyngeal and anterior mediastinal abscess. We have also formulated a pathway based on various case reports involving complete ETT obstruction. Dennis B. Thapa, Nathaniel H. Greene, and Andrea G. Udani Copyright © 2017 Dennis B. Thapa et al. All rights reserved. Vitamin K Deficiency Presenting in an Infant with an Anterior Mediastinal Mass: A Case Report and Review of the Literature Thu, 09 Feb 2017 00:00:00 +0000 We report a case of a 1-month-old infant with spontaneous thymic hemorrhage secondary to severe vitamin K deficiency. He was brought to medical attention due to scrotal bruising and during evaluation was noted to be tachypneic and hypoxemic. Chest X-ray revealed an enlarged cardiothymic silhouette, and a follow-up echocardiogram revealed a mass in the anterior mediastinum. Routine laboratory work-up revealed severe coagulopathy. Further questioning revealed the patient had not received prophylactic vitamin K at birth. The coagulopathy resolved with administration of vitamin K, and a biopsy confirmed the anterior mediastinal mass was due to spontaneous thymic hemorrhage. Mauricio A. Palau, Amanda Winters, Xiayuan Liang, Rachelle Nuss, Susan Niermeyer, Megan Gossling, and Clyde Wright Copyright © 2017 Mauricio A. Palau et al. All rights reserved. A Pediatric Case of Cowden Syndrome with Graves’ Disease Tue, 31 Jan 2017 00:00:00 +0000 Cowden syndrome (CS) is a rare dominantly inherited multisystem disorder, characterized by an extraordinary malignant potential. In 80% of cases, the human tumor suppressor gene phosphatase and tensin homolog (PTEN) is mutated. We present a case of a 17-year-old boy with genetically confirmed CS and Graves’ disease (GD). At the age of 15, he presented with intention tremor, palpitations, and marked anxiety. On examination, he had macrocephaly, coarse facies, slight prognathism, facial trichilemmomas, abdominal keratoses, leg hemangioma, and a diffusely enlarged thyroid gland. He started antithyroid drug (ATD) therapy with methimazole and, after a 2-year treatment period without achieving a remission status, a total thyroidectomy was performed. Diagnosis and management of CS should be multidisciplinary. Thyroid disease is frequent, but its management has yet to be fully defined. The authors present a case report of a pediatric patient with CS and GD and discuss treatment options. Cláudia Patraquim, Vera Fernandes, Sofia Martins, Ana Antunes, Olinda Marques, José Luís Carvalho, Jorge Correia-Pinto, Carla Meireles, and Ana Margarida Ferreira Copyright © 2017 Cláudia Patraquim et al. All rights reserved. Osteopathic Manipulative Treatment Limits Chronic Constipation in a Child with Pitt-Hopkins Syndrome Tue, 31 Jan 2017 00:00:00 +0000 Pitt-Hopkins Syndrome (PTHS) is a rare genetic disorder caused by insufficient expression of the TCF4 gene. Children with PTHS typically present with gastrointestinal disorders and early severe chronic constipation is frequently found (75%). Here we describe the case of a PTHS male 10-year-old patient with chronic constipation in whom Osteopathic Manipulative Treatment (OMT) resulted in improved bowel functions, as assessed by the diary, the QPGS-Form A Section C questionnaire, and the Paediatric Bristol Stool Form Scale. The authors suggested that OMT may be a valid tool to improve the defecation frequency and reduce enema administration in PTHS patients. Alessandro Aquino, Mattia Perini, Silvia Cosmai, Silvia Zanon, Viviana Pisa, Carmine Castagna, and Stefano Uberti Copyright © 2017 Alessandro Aquino et al. All rights reserved. Neonatal Liver Failure and Congenital Cirrhosis due to Gestational Alloimmune Liver Disease: A Case Report and Literature Review Mon, 30 Jan 2017 12:05:21 +0000 Neonatal liver failure (NLF) is a major cause of neonatal morbidity and mortality, presenting as acute liver failure and/or congenital cirrhosis. Many affected patients show antenatal signs of fetal injury. There are several causes of NLF and early diagnosis is mandatory to elucidate the etiology and determine a specific treatment or the best management strategy. Gestational alloimmune liver disease associated with neonatal hemochromatosis (GALD-NH) is a rare but potentially treatable cause of NLF. It should be considered in any neonate with fetal signs of disease and postnatal signs of liver failure with no other identifiable causes. GALD-NH is often diagnosed late and patients are therefore referred late to specialized centers, delaying treatment. This case highlights the consequences of late diagnosis and treatment of GALD-NH and emphasizes the importance of a high grade of suspicion of this disease in order to refer the patient to a specialized center soon enough to perform the appropriate treatment. Carolina Roos Mariano da Rocha, Renata Rostirola Guedes, Carlos Oscar Kieling, Marina Rossato Adami, Carlos Thadeu Schmidt Cerski, and Sandra Maria Gonçalves Vieira Copyright © 2017 Carolina Roos Mariano da Rocha et al. All rights reserved. Idiopathic Pulmonary Hemosiderosis in a Child with Recurrent Macrophage Activation Syndrome Secondary to Systemic Juvenile Idiopathic Arthritis Mon, 30 Jan 2017 00:00:00 +0000 Macrophage activation syndrome, a severe complication of systemic juvenile idiopathic arthritis and other inflammatory diseases, represents one of the most important rheumatological emergencies. Delayed diagnosis could lead to life-threatening complications. Pulmonary hemosiderosis has been classically characterized by a triad of anemia, hemoptysis, and lung infiltrates on chest radiogram. Although the majority of patients of pulmonary hemosiderosis are considered idiopathic, secondary hemosiderosis associated with known diseases could be seen. In this case report, we aimed to present gradually increased pulmonary manifestations due to pulmonary hemosiderosis with recurrent macrophage activation syndrome attacks in a child with systemic juvenile idiopathic arthritis. Kenan Barut, Sezgin Sahin, Amra Adrovic, Velat Sen, and Ozgur Kasapcopur Copyright © 2017 Kenan Barut et al. All rights reserved. Acute Hemorrhagic Edema of Infancy after Coronavirus Infection with Recurrent Rash Tue, 24 Jan 2017 08:50:04 +0000 Purpura, particularly when accompanied by fever, is a worrisome finding in children. Acute hemorrhagic edema of infancy (AHEI) is a benign type of small-vessel leukocytoclastic vasculitis that presents with progressive purpura and has an excellent prognosis. Patients with AHEI present with large, target-like purpuric plaques affecting the face, ear lobes, and extremities. While the rapid onset of these skin findings can be dramatic, the child with AHEI is usually well appearing with reassuring laboratory testing. We describe a case of a previously healthy 8-month-old female who presented with progressive purpura in a nondependent distribution, low-grade fevers, and extremity swelling. An extensive workup was performed prior to making the diagnosis of AHEI. Coronavirus was implicated as the likely triggering pathogen, and the patient suffered a recurrence of purpuric rash and swelling several weeks after her initial presentation. Hannah Chesser, Jeffrey M. Chambliss, and Eric Zwemer Copyright © 2017 Hannah Chesser et al. All rights reserved. A Case of Neonatal Marfan Syndrome: A Management Conundrum and the Role of a Multidisciplinary Team Wed, 11 Jan 2017 07:47:29 +0000 Neonatal Marfan syndrome (nMFS) is a rare condition with a poor prognosis. It is genotypically and phenotypically distinct from the typical Marfan syndrome and carries a poorer prognosis. This case report describes the progression of a 14-month-old girl diagnosed with nMFS at 5 months of age. Her diagnosis followed the identification of a fibrillin-1 mutation (FBN1 gene, exon 26, chromosome 15), which is a common locus of nMFS. This patient developed severe cardiac complications resulting in congestive cardiac failure in early life and required major cardiac surgery. Since surgical intervention, our patient is still reliant on a degree of ventilator support, but the patient has gained weight and echocardiography has demonstrated improved left ventricular function and improved tricuspid and mitral valve regurgitation. Therefore, we argue the importance of a cautious multidisciplinary approach to early surgical intervention in cases of nMFS. Elliott J. Carande, Samuel J. Bilton, and Satish Adwani Copyright © 2017 Elliott J. Carande et al. All rights reserved. Rectal Bleeding and Abdominal Pain Following Vaccination in a 4-Month-Old Infant Mon, 09 Jan 2017 11:31:43 +0000 Intussusception is one of the most frequent causes of intestinal obstruction in infants. Rotavirus vaccination has been associated with intussusception in the medical literature. We report a case of a 4-month-old female with intussusception requiring hemicolectomy one week following rotavirus vaccination. We review the pathophysiology, presentation, and management of intussusception with a distinct focus on the history of rotavirus vaccination and risks of intussusception associated with timing of rotavirus vaccine administration. The discussion makes a strong case for rotavirus vaccine counseling regarding signs of intestinal obstruction and the importance of early recognition. Jaclyn Otero, Molly R. Posa, and Maria N. Kelly Copyright © 2017 Jaclyn Otero et al. All rights reserved. Management Challenges in a Child with Chronic Hyponatremia: Use of V2 Receptor Antagonist Mon, 09 Jan 2017 00:00:00 +0000 Chronic hyponatremia is very rare in children and is often seen in the setting of congestive heart failure or liver failure in adults. Here, we report an 8-year-old child with hypothalamic glioma who presented with severe hyponatremia. Initial management consisted of fluid restriction. This was very difficult for the child to follow and the child developed bizarre drinking habits requiring intervention from child psychiatry. So therapy was initiated with low dose V2 receptor antagonist under close inpatient monitoring. While initial response was reassuring, her sodium levels tended to drift down with longer duration of treatment requiring us to increase the dose frequently. Her response to therapy and her stable clinical situation off therapy suggest that she may have reset osmostat. Sowmya Krishnan, Swapna Deshpande, Ashwini Mallappa, Gunda Divya, Pascale Lane, Anu Vishwanath, and Rene Y. McNall-Knapp Copyright © 2017 Sowmya Krishnan et al. All rights reserved. Antituberculosis Drug-Induced Liver Injury with Autoimmune Features: Facing Diagnostic and Treatment Challenges Mon, 02 Jan 2017 07:36:06 +0000 The authors present a case report of antituberculosis drug-induced liver injury that offered diagnostic challenges (namely, the possibility of drug-induced autoimmune hepatitis) and treatment difficulties. Maria Adriana Rangel, Isabel Pinto Pais, Raquel Duarte, and Isabel Carvalho Copyright © 2017 Maria Adriana Rangel et al. All rights reserved. Neonatal Sacrococcygeal Neuroblastoma Mimicking a Teratoma Sun, 01 Jan 2017 11:16:17 +0000 We reported the first case of a congenital intrapelvic presacral neuroblastoma in Puerto Rico managed in the early neonatal period. The preoperative diagnosis was a sacrococcygeal teratoma Altman stage IV classification. This case confirms the importance of a comprehensive physical examination and observation of low-risk newborn infants with a history of adequate prenatal care and an unremarkable fetal ultrasonogram during pregnancy. Leticia Gely, Humberto Lugo-Vicente, María Correa-Rivas, Kary Bouet, Zayhara Reyes Bou, Mohammed Suleiman, and Inés García Copyright © 2017 Leticia Gely et al. All rights reserved. Mixed Botryoid and Spindle Cell Bladder Rhabdomyosarcoma: An Outstanding Pediatric Case Sun, 01 Jan 2017 10:00:49 +0000 We report a case of a 3-year-old North African child, initially assessed for nonspecific urinary symptoms such as haematuria and burning urination. The ultrasound evaluation showed a vegetating mass occupying the lumen with weak vascular signs at the Colour-Doppler evaluation. An explorative cystoscopy was performed and it revealed a nonbleeding lesion, white in colour, pedunculated, projecting into the lumen, and associated with a brown satellite formation. Histological examination showed a mixed Botryoid and Spindle Cell Rhabdomyosarcoma. This mixed histology has not been described before and no statistical data are reported in literature so far. Despite the Embryonal Rhabdomyosarcoma variant being the most common, the association characterized by two histological Rhabdomyosarcoma subtypes such as Botryoid and Spindle Cell is rarely observed and it is important to get an accurate histological diagnosis in order to immediately start the correct treatment protocol. Tommaso Alterio, Roberto Chimenz, Salvatore Arena, Giovanni Conti, Sabrina Cardile, Carmelo Romeo, Carmelo Salpietro, and Carmelo Fede Copyright © 2017 Tommaso Alterio et al. All rights reserved. Schwannoma Localized Retroperitoneally in a 14-Year-Old Boy Sun, 18 Dec 2016 09:55:39 +0000 Schwannomas usually occur in adults being between the second and fifth decades, and such neoplasms are extremely rare in a pediatric population. In addition, they are not normally found in the retroperitoneal region. Here, we present a pediatric case of a retroperitoneal schwannoma in an adrenal location where the tumor was not able to be preoperatively differentiated from other benign or malign adrenal gland tumors. In our opinion, this tumor can be included in the differential diagnosis of a nonfunctioning retroperitoneal adrenal mass in children. Hasan Cayirli, Halil Ibrahim Tanriverdi, Ali Aykan Ozguven, Cuneyt Gunsar, Betul Ersoy, and Ali Riza Kandiloglu Copyright © 2016 Hasan Cayirli et al. All rights reserved. The “Pearls” of Multidisciplinary Team: Conquering the Uncommon Rosette Rash Tue, 13 Dec 2016 09:34:47 +0000 Linear IgA disease of childhood (LAD) also known as chronic bullous disease of childhood is an autoimmune disease with IgA deposition at the basement membrane zone leading to a vesiculobullous rash. It has a clinical appearance which frequently is described as resembling “strings of pearls” or rosette-like. Diagnosis is usually clinical but sometimes biopsy is required. Dapsone is widely considered to be the first line therapy in the treatment of LAD. A 5-year-old girl presented with 4-day history of a widespread painful rash and pyrexia. The rash transformed into painful blisters. A recent contact with chickenpox was present. She remained apyrexial but hemodynamically stable and was treated as chickenpox patient with secondary infection. Due to persistent symptoms after repeated attendance she was reviewed by Dermatology team and diagnosed with linear IgA disease also known as chronic bullous disease of childhood. This was based on the presence of blistering rash with rosette appearance and string of pearl lesions. The clinical features of LAD can be difficult to distinguish from more common skin infections. Benefiting from the experience of other multidisciplinary teams can sometimes be a game changer and can lead to the correct diagnosis and treatment. Nitin Verma, Charles Pickles, and Muhammad Amjad Khan Copyright © 2016 Nitin Verma et al. All rights reserved. Enhancing Mass Lesion of the Sphenoid: Atypical Presentation of Ongoing Pneumatization Mon, 12 Dec 2016 07:06:24 +0000 Sinus pneumatization is a complex variable process that begins in early life and continues for many years. We present a case of a 6-year-old boy with progressive headaches and neurologic symptoms suggestive of intracranial pathology. The presence of enhancing tissue within the sphenoid sinus created a diagnostic dilemma which leads to a transsphenoidal biopsy. Knowledge of imaging characteristics associated with incomplete pneumatization can help differentiate it from more ominous skull base pathology and prevent unnecessary testing. We describe four-year imaging follow-up in a patient with incomplete pneumatization of the sphenoid sinus presenting as an enhancing mass lesion with subsequent follow-up imaging demonstrating gradual regression and increased aeration of the sphenoid sinus. Deepak Vallabhaneni, Anthony Mohamed, Zain Badar, and Rajiv Mangla Copyright © 2016 Deepak Vallabhaneni et al. All rights reserved. Infantile Cortical Hyperostosis: Report of a Case with Observations on Clinical Manifestations, Radiology, and Pathology with a Late Follow-Up of Eight Years Tue, 06 Dec 2016 11:00:33 +0000 Purpose. The purpose of our study was to investigate clinical manifestations, roentgen images, histopathological studies, and evolution of the disease in patient displaying infantile cortical hyperostosis. Methods. Roentgenograms were made to evaluate a neonatal patient presenting multiple soft-tissue swellings. The initial radiographs insinuated that the disease had been present for some time in utero. Bone puncture biopsy of the tibia for histopathological observation and diagnosis conclusions was performed. Results. The disease was demonstrated radiographically by massive cortical diaphyseal thickening and also extensive periosteal new bone formation surrounding several bones. Results in blood count were as follows: discrete anemia, moderate leukocytosis, and elevated sedimentation rate. Histological pattern of tissue removed from tibia showed lamellar cortical bones and hyperplasia. Biopsy studies disclosed no evidence of neoplasia as well as of bacterial infection. Comments. Clinical manifestations in a neonatal patient displaying infantile cortical hyperostosis have gradually decreased. Radiograph findings have demonstrated complete recovery of bones manifested by the disease. The pathologic findings are in accordance with previous microscopic examination summarized by the literature. Total patient cure, without sequels, could be demonstrated. Pedro Carlos M. Sarmento Pinheiro, Ierecê Lins Aymore, Armando Rocha Amoedo, and Paulo Miguel Hemais Copyright © 2016 Pedro Carlos M. Sarmento Pinheiro et al. All rights reserved. A Rare Case of Clavicle Osteomyelitis in a Child and Literature Review Mon, 05 Dec 2016 13:47:16 +0000 Acute clavicle osteomyelitis in children is rare representing <3% of osteomyelitis cases. We treated a 12-year-old boy who presented with acute pain in the right clavicle and high fever for 4 days. MRI showed abnormal signal in the right clavicle with periosteal reaction. Staphylococcus aureus isolated from blood was susceptible to methicillin, clindamycin, and macrolides. Clindamycin was given intravenously for 3 wks and orally for another 3 wks with no recurrence. We reviewed clavicle osteomyelitis cases in children searching PubMed English literature. From a total of 89 studies retrieved, only 6 fulfilled the criteria and were analyzed. Sixteen patients (56% female) were included with a median age of 9 yrs (range 2 wks–16 yrs). Osteomyelitis was hematogenous in most cases, with S. aureus being the most frequent cause, isolated from either blood or tissue. Symptoms included fever, swelling, and localized bone tenderness. Antimicrobial therapy lasted for 4–12 weeks (median 7.5). Three patients required drainage or curettage. Recurrence occurred in 1/16 cases (6.2%) and persistence of symptoms occurred to 2/16 cases (12.5%) reported before 90s with unknown antimicrobial susceptibility of the pathogen. Acute clavicle osteomyelitis mainly affects older children and has generally good prognosis. Staphylococcus aureus is most commonly implicated and surgery may be needed. Elisavet-Anna Chrysochoou, Charalampos Antachopoulos, Konstantinos Badekas, and Emmanuel Roilides Copyright © 2016 Elisavet-Anna Chrysochoou et al. All rights reserved. A 14-Year-Old Boy with Unusual Presentation of Respiratory Distress Thu, 01 Dec 2016 09:32:57 +0000 There are multiple cardiac etiologies for wheezing and respiratory distress which require a high degree of suspicion for the pediatrician to diagnose. We present a case of a patient with a history of long-standing mild persistent asthma with minimal improvement on controller and bronchodilator therapies who presented to the emergency room with acute respiratory distress. When he demonstrated a lack of improvement with traditional respiratory therapies, additional etiologies of respiratory distress were considered. Ultimately an echocardiogram was performed, which revealed the diagnosis of cor triatriatum. He underwent surgical resection of his accessory membrane and has had no additional symptoms of asthma since repair. Adam W. Powell, Samuel Hanke, James S. Tweddell, and Nicolas Madsen Copyright © 2016 Adam W. Powell et al. All rights reserved. Childhood Hypopigmented Mycosis Fungoides: A Rare Diagnosis Tue, 29 Nov 2016 07:32:07 +0000 Primary cutaneous lymphomas (PCL) are rare in pediatrics. Mycosis fungoides (MF) is the most frequent PCL diagnosed in childhood. There are various clinical variants of MF, including the hypopigmented MF (HMF). We present a 5-year-old boy with an 18-month history of progressive, generalized, nonpruritic hypopigmented lesions with central lacy erythema. He had no improvement with emollients. Skin biopsy showed typical features of HMF. He was treated with topical corticosteroids and tacrolimus and narrow-band ultraviolet B (NBUVB) phototherapy, with good response. HMF may mimic multiple skin disorders. Unusual hypopigmented skin lesions should be biopsied. Though phototherapy is effective, recurrence is common. Cláudia Patraquim, Maria Miguel Gomes, Carla Garcez, Filipa Leite, Tereza Oliva, António Santos, and Armando Pinto Copyright © 2016 Cláudia Patraquim et al. All rights reserved. Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations Mon, 28 Nov 2016 14:23:48 +0000 Stickler syndrome or hereditary progressive arthroophthalmopathy is a heterogeneous group of collagen tissue disorders, characterized by orofacial features, ophthalmological features (high myopia, vitreoretinal degeneration, retinal detachment, and presenile cataracts), hearing impairment, mild spondyloepiphyseal dysplasia, and/or early onset arthritis. Stickler syndrome type I (ocular form) is caused by mutation in the COL2A1 gene. Ptosis and uveitis are relatively rare ophthalmological manifestations of this syndrome. We report an Indian boy having 2710C>T mutation in COL2A1 gene demonstrating short stature, ptosis, and uveitis with Stickler syndrome. Manisha Goyal, Seema Kapoor, Shiro Ikegawa, and Gen Nishimura Copyright © 2016 Manisha Goyal et al. All rights reserved. Anterior Hypopituitarism and Treatment Response in Hunter Syndrome: A Comparison of Two Patients Mon, 28 Nov 2016 11:48:20 +0000 Hypopituitarism is a clinically important diagnosis and has not previously been reported in Hunter syndrome. We contrast two cases with anatomic pituitary anomalies: one with anterior panhypopituitarism and the other with intact pituitary function. Patient 1, a 10-year-old boy with Hunter syndrome, was evaluated for poor growth and an ectopic posterior pituitary gland. Endocrine testing revealed growth hormone (GH) deficiency, secondary adrenal insufficiency, and tertiary hypothyroidism. An improvement in growth velocity with hormone replacement (GH, thyroxine, and corticosteroid) was seen; however, final adult height remained compromised. Patient 2, a 13-year-old male with Hunter syndrome, was evaluated for growth failure. He had a large empty sella turcica with posteriorly displaced pituitary. Functional endocrine testing was normal and a trial of GH-treatment yielded no significant effect. Panhypopituitarism associated with pituitary anomalies has not been previously reported in Hunter syndrome and was an incidental finding of significant clinical importance. In the setting of documented anterior hypopituitarism, while hormone replacement improved growth velocity, final height remained impaired. In patient 2 with equivocal GH-testing results, treatment had no effect on linear growth. These cases highlight the importance of careful clinical assessment in Hunter syndrome and that judicious hormone replacement may be indicated in individual cases. Munier A. Nour, Paola Luca, David Stephure, Xing-Chang Wei, and Aneal Khan Copyright © 2016 Munier A. Nour et al. All rights reserved. From Benign to Malign in a Case of Cervical Adenopathy in a 17-Year-Old Adolescent: Diagnostic Traps Sun, 27 Nov 2016 10:03:37 +0000 Distinguishing between benign and malign adenopathies remains a challenge and could represent a source of error in a diagnosis. We report a case of right laterocervical adenopathy in a 17-year-old teenager admitted to hospital with an episode of fever associated with dysphagia, congested pharynx, and pultaceous deposits. Initially the adenopathy was considered to be secondary to a coinfection with Streptococcus B-hemolytic and Epstein-Barr virus, as suggested by the positive bacteriological and serological tests. The onset of the adenopathy before the episode and the ultrasound modifications raised the suspicion of a malignancy, later confirmed by the histopathologic examination of the lymph node excision. The final diagnosis was nodal metastasis of an undifferentiated lymphoepithelial carcinoma with an ENT starting point. Currently, the adolescent is hospitalised in the ENT ward, where the pharynx carcinoma with nodal metastasis was confirmed. Sometimes the infectious context can mask or unmask a malign chronic disease with insidious evolution. Simona Dumitra, Maria Trailescu, Amelia Burlea, Claudia Covaci, Ozana Balan, Adrian Pavel, and Carmen Crișan Copyright © 2016 Simona Dumitra et al. All rights reserved.