Case Reports in Pediatrics https://www.hindawi.com The latest articles from Hindawi © 2017 , Hindawi Limited . All rights reserved. Lower Extremity Abscess Formation in Premature Infants due to Routine Infant Vaccinations Sun, 18 Jun 2017 00:00:00 +0000 http://www.hindawi.com/journals/cripe/2017/3290184/ Since the introduction of vaccines, the impact of vaccinations has been immeasurable. Under the current immunization guidelines, infants receive the first of their routine infant vaccinations at 2 months of age. While the benefits of routine infant vaccinations in premature infants have been demonstrated, there is relatively little data on the dosing of these vaccines in premature infants. The medical records of two premature infants who developed intramuscular abscesses after receiving their routine infant vaccinations were reviewed. Both patients developed pain in the area of the injection after receiving their vaccinations. Magnetic resonance imaging findings confirmed the formation of an abscess. No other causes of abscess formation were observed. Both patients required surgical intervention and were treated with a course of antibiotics. To our knowledge, this is the first case report to suggest routine vaccinations as a potential cause of abscess formation in premature infants. Yuhang Sun, Surya N. Mundluru, and Alice Chu Copyright © 2017 Yuhang Sun et al. All rights reserved. Primary Occipital Ewing’s Sarcoma with Subsequent Spinal Seeding Tue, 13 Jun 2017 00:00:00 +0000 http://www.hindawi.com/journals/cripe/2017/1521407/ Ewing’s sarcoma is a primary bone cancer that mainly affects the long bones. This malignancy is particularly common in pediatric patients. Primary cranial involvement accounts for 1% of cases, with occipital involvement considered extremely rare. In this case study, primary occipital Ewing’s sarcoma with a posterior fossa mass and subsequent relapse resulting in spinal seeding is reported. A 3-year-old patient presented with a 1-year history of left-sided headaches, localized over the occipital bone with progressive torticollis. Computed tomography (CT) imaging showed a mass in the left posterior fossa compressing the brainstem. The patient then underwent surgical excision followed by adjuvant chemoradiation therapy. Two years later, the patient presented with severe lower back pain and urinary incontinence. Whole-spine magnetic resonance imaging (MRI) showed cerebrospinal fluid (CSF) seeding from the L5 to the S4 vertebrae. Primary cranial Ewing’s sarcoma is considered in the differential diagnosis of children with extra-axial posterior fossa mass associated with destructive permeative bone lesions. Although primary cranial Ewing’s sarcoma typically has good prognosis, our patient developed metastasis in the lower spine. Therefore, with CNS Ewing’s sarcoma, screening of the entire neural axis should be taken into consideration for early detection of CSF seeding metastasis in order to decrease the associated morbidity and mortality. Ali Alqahtani, Roaa Amer, and Eman Bakhsh Copyright © 2017 Ali Alqahtani et al. All rights reserved. Congenital Infantile Fibrosarcoma Causing Intestinal Perforation in a Newborn Mon, 12 Jun 2017 07:10:43 +0000 http://www.hindawi.com/journals/cripe/2017/2969473/ Congenital infantile fibrosarcoma (CIF) is a rare malignant mesenchymal tumor and only 14 cases have been reported with gastrointestinal manifestation. We report about a female newborn delivered per emergency cesarean section at 34 weeks of gestation. Postnatally, she rapidly developed an acute abdomen and sonographic evidence of intestinal perforation requiring laparotomy on the first day of life. A perforated 2 × 3 cm sized spherical tumorous structure of the jejunum was identified. Due to unknown histopathology at this point and unclear resectional margins, she received a temporary ileostomy, which was closed two months later. Histopathology revealed a congenital intestinal fibrosarcoma without the characteristic ETV6-NTRK3 fusion transcript. In conclusion, this rare tumor must be considered as differential diagnosis of intestinal perforations in newborns. Margarita Kaiser, Bernadette Liegl-Atzwanger, Eszter Nagy, Daniela Sperl, Georg Singer, and Holger Till Copyright © 2017 Margarita Kaiser et al. All rights reserved. Prenatal Diagnosis of Atrioventricular Block and QT Interval Prolongation by Fetal Magnetocardiography in a Fetus with Trisomy 18 and SCN5A R1193Q Variant Tue, 30 May 2017 06:23:00 +0000 http://www.hindawi.com/journals/cripe/2017/6570465/ We report a case of fetal trisomy 18 with SCN5A R1193Q variant that presented with sinus bradycardia, 2 : 1 atrioventricular block (AVB), and QT interval prolongation. These complex arrhythmias were diagnosed by fetal magnetocardiography combined with ultrasound findings. Advanced AVB and ventricular arrhythmias were confirmed after birth. Genetic testing of the baby revealed a SCN5A R1193Q variant, which we considered could account for the various arrhythmias in this case. Lisheng Lin, Miho Takahashi-Igari, Yoshiaki Kato, Yoshihiro Nozaki, Mana Obata, Hiromi Hamada, and Hitoshi Horigome Copyright © 2017 Lisheng Lin et al. All rights reserved. Williams-Beuren Syndrome and Congenital Lobar Emphysema: Uncommon Association with Common Pathology? Wed, 24 May 2017 00:00:00 +0000 http://www.hindawi.com/journals/cripe/2017/3480980/ Introduction. Congenital lobar emphysema (CLE) and Williams-Beuren Syndrome are two rare conditions that have only been reported together in a single case study. Case Presentation. We report another case of a male Caucasian newborn with nonspecific initial respiratory distress, with detection of CLE on repeat chest X-ray on Day 25 of life and concurrent ventricular septal defect, supravalvular aortic stenosis, and branch pulmonary stenosis, in whom a 7q11.23 deletion consistent with Williams-Beuren Syndrome was made. Conclusion. A diagnosis of congenital lobar emphysema should prompt further screening for congenital heart disease and genetic deletion, and further research is needed to investigate the role of elastin gene mutation in the development of the neonatal lung. Timothy Andrew Walsh, Krishna Revanna Gopagondanahalli, and Atul Malhotra Copyright © 2017 Timothy Andrew Walsh et al. All rights reserved. A Constellation of Rare Findings in a Case of Goldenhar Syndrome Sun, 21 May 2017 10:10:30 +0000 http://www.hindawi.com/journals/cripe/2017/3529093/ An 18-month-old child presented with right macrostomia, bilateral preauricular skin tags, bilateral CTEV, squint in bilateral eyes, thoracic vertebral anomalies, right sided aortic arch, and associated left pulmonary agenesis. The patient did not have any associated respiratory symptoms. Ipsilateral pulmonary agenesis is considered as a rare association with Goldenhar syndrome and a case of contralateral pulmonary aplasia has been described as an even rarer association. Mitesh Bedi, Rakesh Kumar Jain, Vipin Kumar Barala, Abhimanyu Singh, and Hiranmayi Jha Copyright © 2017 Mitesh Bedi et al. All rights reserved. Physiological Striae Atrophicae of Adolescence with Involvement of the Axillae and Proximal Arms Tue, 16 May 2017 00:00:00 +0000 http://www.hindawi.com/journals/cripe/2017/7678086/ We report a 16-year-old adolescent male with multiple violaceous, atrophic, vertical linear striae isolated to the axillae and proximal arms of approximately one-year duration. In the past two years, he indulged in heavy weight-lifting. He experienced a growth spurt over the past few years. The patient was otherwise in good health and was not on any medications. Physiological striae atrophicae of adolescence where the striae were restricted to the axillae and proximal arms have very rarely been reported. Alexander K. C. Leung and Benjamin Barankin Copyright © 2017 Alexander K. C. Leung and Benjamin Barankin. All rights reserved. A Patient with MSUD: Acute Management with Sodium Phenylacetate/Sodium Benzoate and Sodium Phenylbutyrate Mon, 15 May 2017 00:00:00 +0000 http://www.hindawi.com/journals/cripe/2017/1045031/ In treatment of metabolic imbalances caused by maple syrup urine disease (MSUD), peritoneal dialysis, and hemofiltration, pharmacological treatments for elimination of toxic metabolites can be used in addition to basic dietary modifications. Therapy with sodium phenylacetate/benzoate or sodium phenylbutyrate (NaPB) in urea-cycle disorder cases has been associated with a reduction in branched-chain amino acid (BCAA) concentrations when the patients are on adequate dietary protein intake. Moreover, NaPB in treatment of MSUD patients is also associated with reduction of BCAA levels in a limited number of cases. However, there are not enough studies in the literature about application and efficacy of this treatment. Our case report sets an example of an alternative treatment’s efficacy when extracorporeal procedures are not available due to technical difficulties during attack period of the disease. Melis Köse, Ebru Canda, Mehtap Kagnici, Sema Kalkan Uçar, and Mahmut Çoker Copyright © 2017 Melis Köse et al. All rights reserved. Sclerema Neonatorum Treated Successfully with Parenteral Steroids: An Experience from a Resource Poor Country Thu, 11 May 2017 00:00:00 +0000 http://www.hindawi.com/journals/cripe/2017/4836142/ Sclerema neonatorum is a form of panniculitides characterized by diffuse hardening of subcutaneous tissue with minimal inflammation. It usually affects ill and preterm neonates. Prognosis is usually poor in many cases despite aggressive management. Various treatment modalities (antibiotics, intravenous immunoglobulin, steroids, and exchange transfusion) have been explained in literature. Steroids due to its easy availability and low cost can prove to be lifesaving in such cases, especially in resource poor countries. Here, we report a case of sclerema neonatorum in a one-week preterm baby treated successfully with parenteral steroids and antibiotics. Sandeep Shrestha, Nagendra Chaudhary, Sujit Koirala, and Ruchi Gupta Copyright © 2017 Sandeep Shrestha et al. All rights reserved. Parotitis as an Initial Symptom of Kawasaki Disease Thu, 11 May 2017 00:00:00 +0000 http://www.hindawi.com/journals/cripe/2017/5937276/ We report the case of a 13-month-old boy who developed right side parotitis as a first symptom of Kawasaki disease (KD). The data presented herein suggest that physicians should be aware that nonsuppurative parotitis is a possible manifestation of KD. Koji Yokoyama Copyright © 2017 Koji Yokoyama. All rights reserved. Use of Chlorothiazide in the Management of Central Diabetes Insipidus in Early Infancy Wed, 03 May 2017 06:59:33 +0000 http://www.hindawi.com/journals/cripe/2017/2407028/ Management of central diabetes insipidus in infancy is challenging. The various forms of desmopressin, oral, subcutaneous, and intranasal, have variability in the duration of action. Infants consume most of their calories as liquids which with desmopressin puts them at risk for hyponatremia and seizures. There are few cases reporting chlorothiazide as a temporizing measure for central diabetes insipidus in infancy. A male infant presented on day of life 30 with holoprosencephaly, cleft lip and palate, and poor weight gain to endocrine clinic. Biochemical tests and urine output were consistent with central diabetes insipidus. The patient required approximately 2.5 times the normal fluid intake to keep up with the urine output. Patient was started on low renal solute load formula and oral chlorothiazide. There were normalization of serum sodium, decrease in fluid intake close to 1.3 times the normal, and improved urine output. There were no episodes of hyponatremia/hypernatremia inpatient. The patient had 2 episodes of hypernatremia in the first year of life resolving with few hours of hydration. Oral chlorothiazide is a potential bridging agent for treatment of central DI along with low renal solute load formula in early infancy. It can help achieve adequate control of DI without wide serum sodium fluctuations. Manish Raisingani, Resmy Palliyil Gopi, and Bina Shah Copyright © 2017 Manish Raisingani et al. All rights reserved. De Novo PTEN Mutation in a Young Boy with Cutaneous Vasculitis Mon, 24 Apr 2017 07:46:00 +0000 http://www.hindawi.com/journals/cripe/2017/9682803/ Phosphatase and tensin homolog (PTEN) is the protein encoded by the PTEN gene (10q23.3). PTEN mutations are related to a variety of rare diseases referred to collectively as PTEN hamartoma tumor syndromes (PHTS), which include Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus Syndrome, and Proteus-like syndrome. These diseases are associated with an increased risk of malignancy and for this reason an accurate and early diagnosis is essential in order to institute cancer surveillance. PTEN is a regulator of growth and homeostasis in immune system cells, although there are limited data describing immune dysregulation caused by PTEN mutations. We describe a case of PHTS syndrome caused by a de novo mutation in PTEN detected using a targeted next generation sequencing (NGS) gene panel which was instigated for workup of cutaneous vasculitis. We highlight the diagnostic utility of this approach and that mutations in PTEN may be associated with immune-dysregulatory features such as vasculitis in young children. Angela Mauro, Ebun Omoyinmi, Neil James Sebire, Angela Barnicoat, and Paul Brogan Copyright © 2017 Angela Mauro et al. All rights reserved. Sporadic Insulinoma as a Rare Cause of Recurrent Hypoglycemia in Children Thu, 20 Apr 2017 00:00:00 +0000 http://www.hindawi.com/journals/cripe/2017/4756793/ Insulinoma is a rare pancreatic tumor in children and adolescents. As a result of insulin hypersecretion, signs and symptoms are more commonly consequences of the pathophysiologic responses to hypoglycemia. According to rarity of this tumor in children and nonspecificity of clinical presentations, diagnosis of insulinoma in this group of patients is usually delayed. Early diagnosis is very important for preventing neurologic damage. In this case report, we present the case of a 10-year-old boy with signs and symptoms of hypoglycemia and final diagnosis of insulinoma. Hedyeh Saneifard, Ahmad Khaleghnejad Tabari, Maryam Kazemi Aghdam, Mohadese Musavi Khorshidi, and Ali Sheikhy Copyright © 2017 Hedyeh Saneifard et al. All rights reserved. Complete Ectopia Cordis: A Case Report and Literature Review Wed, 19 Apr 2017 08:09:46 +0000 http://www.hindawi.com/journals/cripe/2017/1858621/ Ectopia cordis is a congenital heart exposure defined as complete or partial protrusion of heart through ventral defect in the thoracoabdominal wall alone or with other viscera in cases of pentalogy of Cantrell. This condition was first described by Haller et al. in 1706; since then many advances have been made. Diagnosis of ectopia cordis is done prenatally in well-equipped health facility by antenatal ultrasound scan so that early diagnosis and management plan can be initiated. The index case was delivered to uneducated rural family and admitted at 3 days of life and survived for seven days, even though most literatures state that majority died within four days even with surgery. So, in view of this, we presented this case report to deliberately draw the attention of paediatrician/obstetrician to the fact that even though this condition is rare, proactive search and diagnosis should be made and early treatment should be instituted, so that such a child may be salvaged. Simon Pius, Halima Abubakar Ibrahim, Mustapha Bello, and Mohammed Bashir Tahir Copyright © 2017 Simon Pius et al. All rights reserved. Thermal Esophageal Injury following Ingestion of Boiling Mushroom Water Tue, 18 Apr 2017 09:45:50 +0000 http://www.hindawi.com/journals/cripe/2017/1859352/ Thermal esophageal and gastric damage from ingestion of hot liquids is poorly studied in pediatrics. Limited case reports exist in the literature. Many cases presented with chest pain, dysphagia, and odynophagia. Variable histologic findings were reported. No definitive management guidelines exist for such injuries. We provide a report of the acute assessment and management of an obvious thermal esophageal injury and contribute to what is known about this presentation. A 16-year-old male presented with odynophagia, dysphagia, and hematemesis following ingestion of “nearly boiling” mushroom water. Ondansetron, pantoprazole, ketorolac, maintenance intravenous fluids, and a clear liquid diet were started. At sixty hours after ingestion, an esophagogastroduodenoscopy (EGD) revealed blistering and edema of the soft palate and epiglottis, circumferential erythema of the entire esophagus with an exudate likely to be desquamated mucosa, and linear erythema of the body and fundus of the stomach. An EGD one month after ingestion showed no residual effects from the injury. The pantoprazole was weaned and restrictions to his diet were lifted. To better standardize care in these rare esophageal injuries, the development of a clinical care algorithm may be beneficial to provide clinicians with a guide for management based on outcomes of previously reported cases. Allison Prevost, Adam Talley, Emily Klepper, and Elizabeth McDonough Copyright © 2017 Allison Prevost et al. All rights reserved. Systemic Pseudohypoaldosteronism Type I: A Case Report and Review of the Literature Tue, 18 Apr 2017 06:43:42 +0000 http://www.hindawi.com/journals/cripe/2017/7939854/ Systemic pseudohypoaldosteronism (PHA) type I is a rare genetic disorder resulting from mutations in the subunits of the epithelial sodium channel that manifests as severe salt wasting, hyperkalemia, and metabolic acidosis in infancy. In this article we report a patient with systemic PHA type I presenting with severe dehydration due to salt wasting at 6 days of life. She was found to have a known mutation in the SCNN1A gene and subsequently required treatment with sodium supplementation. We also review the clinical presentation, differential diagnosis, and treatment of systemic PHA type I and summarize data from 27 cases with follow-up data. Nasifa Nur, Cameron Lang, Juanita K. Hodax, and Jose Bernardo Quintos Copyright © 2017 Nasifa Nur et al. All rights reserved. Pneumoperitoneum without Intestinal Perforation in a Neonate: Case Report and Literature Review Sun, 16 Apr 2017 00:00:00 +0000 http://www.hindawi.com/journals/cripe/2017/6907329/ Pneumoperitoneum in a preterm neonate usually indicates perforation of the intestine and is considered a surgical emergency. However, there are cases of pneumoperitoneum with no evidence of rupture of the intestine reported in the literature. We report a case of pneumoperitoneum with no intestinal perforation in a preterm neonate with respiratory distress syndrome who was on high frequency oscillatory ventilation (HFOV). He developed bilateral pulmonary interstitial emphysema with localized cystic lesion, likely localized pulmonary interstitial emphysema, and recurrent pneumothoraces. He was treated with dexamethasone to wean from the ventilator. Pneumoperitoneum developed in association with left sided pneumothorax following mechanical ventilation and cardiopulmonary resuscitation. Pneumoperitoneum resolved after the pneumothorax was resolved with chest tube drainage. He died from acute cardiorespiratory failure. At autopsy, there was no evidence of intestinal perforation. This case highlights the fact that pneumoperitoneum can develop secondary to pneumothorax and does not always indicate intestinal perforation or require exploratory laparotomy. Prabhavathi Gummalla, Gratias Mundakel, Maksim Agaronov, and Haesoon Lee Copyright © 2017 Prabhavathi Gummalla et al. All rights reserved. Herpes Simplex Proctitis Mimicking Inflammatory Bowel Disease in a Teenaged Male Tue, 04 Apr 2017 07:15:48 +0000 http://www.hindawi.com/journals/cripe/2017/3547230/ We report the case of a 17-year-old male who was initially assessed for pain with defecation, bloody rectal discharge, and diarrhea, consistent with proctitis. Though proctitis is most commonly due to inflammatory bowel disease (IBD), infectious etiologies must also be considered, including sexually transmitted causes of infectious proctitis. In discussion of his sexual history, he identified as homosexual and acknowledged engaging in receptive anal intercourse. Rectal biopsies obtained via colonoscopy were culture-positive for herpes simplex virus (HSV), leading to a diagnosis of HSV proctitis and treatment with an appropriate antiviral medication. HSV proctitis is more common in individuals with high-risk sexual practices, including men who have sex with men. While this may be an uncommon diagnosis for pediatricians to make in practice, a high clinical index of suspicion for sexually transmitted infectious proctitis in those with risk factors must be maintained in order to facilitate appropriate testing, treatment, and counseling of affected individuals. Kristen E. Sandgren, Nathan B. Price, Warren P. Bishop, and Patrick J. McCarthy Copyright © 2017 Kristen E. Sandgren et al. All rights reserved. The Complexity of Pain Management in Children Affected by Mucopolysaccharidoses Mon, 03 Apr 2017 09:06:10 +0000 http://www.hindawi.com/journals/cripe/2017/7257230/ Mucopolysaccharidoses (MPSs) are a group of rare, genetic lysosomal storage disorders. They are caused by deficiencies of the lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs). Pain is a common feature in mucopolysaccharidoses. However, the pathophysiology of pain in this group of diseases is still unclear and genesis of pain is multifactorial. Currently, poor data about pain management in these patients are available. Here, we present our clinical experience in complex pain management in three children with MPS. Sabrina Congedi, Chiara Di Pede, Maurizio Scarpa, Angelica Rampazzo, and Franca Benini Copyright © 2017 Sabrina Congedi et al. All rights reserved. Identifying Potential Child Abuse through Oral Examination Sun, 02 Apr 2017 08:35:47 +0000 http://www.hindawi.com/journals/cripe/2017/6943954/ Limited reports of oropharyngeal trauma exist in the literature even though this type of injury is extremely common in pediatric populations. There are no widely agreed upon diagnostic and management tools for such injuries in abuse cases, emphasizing the importance of reporting rare cases of orofacial trauma. This case report of a soft palate laceration demonstrates an instance of initially unrecognized potential child abuse. We aim to clarify understanding of such injuries. Furthermore, the report highlights the need for recognition of oral signs of child abuse in order to promote early detection, reporting, and appropriate management. Jillian N. Printz, Aaron Baker, and Michele Carr Copyright © 2017 Jillian N. Printz et al. All rights reserved. High-Risk Neuroblastoma with Metastases to Bilateral Kidneys at Diagnosis Thu, 30 Mar 2017 10:12:39 +0000 http://www.hindawi.com/journals/cripe/2017/5375091/ Renal metastasis at diagnosis with neuroblastoma is rare. We present a 14-month-old boy who was diagnosed with high-risk neuroblastoma with multiple metastases, including bilateral kidneys. He received five cycles of induction chemotherapy and high-dose chemotherapy with autologous peripheral blood stem cell transplantation. All of the lesions shrank, and magnetic resonance imaging indicated that some of the metastases had disappeared. However, there were residual masses in the bilateral kidneys, and histological examination revealed the presence of tumor cells. Therefore, the patient underwent unrelated cord blood stem cell transplantation, which involved killer-ligand incompatibility in the graft-versus-host direction, in addition to human leukocyte antigen C and DRB1 mismatches. Three months later, tumor progression occurred from the residual mass in the sacral canal and a new lesion in the pancreas. Although tumor progression could not be controlled by additional chemotherapy and local radiotherapy, the metastatic nodules in bilateral kidneys did not increase in size before his death. To the best of our knowledge, this is the first report of neuroblastoma with bilateral renal metastases in the English medical literature. In addition, this case suggests that the combination of chemotherapy and immunotherapy may inhibit the progression of the renal lesions under certain conditions. Toshihide Yoshikawa, Akihiko Tanizawa, Koji Suzuki, Kazumi Ikeda, Eishi Nomura, Yumekichi Maeda, Nanae Tanaka, Kenta Yamada, Yasuhiro Sakai, Yoshiaki Imamura, and Yusei Ohshima Copyright © 2017 Toshihide Yoshikawa et al. All rights reserved. Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient with Alagille Syndrome Wed, 29 Mar 2017 07:09:25 +0000 http://www.hindawi.com/journals/cripe/2017/1368189/ Alagille Syndrome (ALGS) is a rare autosomal dominant disorder that affects multiple organ systems. Cholestasis as a result of a paucity of intrahepatic bile ducts and congenital heart defects are the two most common features of ALGS. We describe a case of ALGS with novel mutations of JAG1 and NOTCH2 genes in a newborn girl with complex congenital heart disease, bilateral dysplastic kidneys, and malrotation with volvulus. Alisa Brennan and Anil Kesavan Copyright © 2017 Alisa Brennan and Anil Kesavan. All rights reserved. Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene Mon, 27 Mar 2017 00:00:00 +0000 http://www.hindawi.com/journals/cripe/2017/5321860/ Juvenile polyposis syndrome (JPS) is a rare autosomal dominant hereditary disorder, characterized by multiple juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. JPS is most frequently caused by mutations in the SMAD4 or BMPR1A genes. Herein, we report a child with juvenile polyposis syndrome (JPS) with a novel mutation in the SMAD4 gene. An 8-year-old boy presented with recurrent rectal bleeding and was found to have multiple polyps in the entire colon. The histology of the resected polyps was consistent with juvenile polyps. Subsequent genetic screening revealed a novel mutation in SMAD4, exon 5 (p.Ser144Stop). To the best of our knowledge, this mutation has not been reported before. Offering genotypic diagnosis for patients with JPS is an important step for strategic plan of management. Amna Ahmed and Badr Alsaleem Copyright © 2017 Amna Ahmed and Badr Alsaleem. All rights reserved. Isotretinoin as a Possible Environmental Trigger to Autoimmunity in Genetically Susceptible Patients Sun, 26 Mar 2017 07:29:27 +0000 http://www.hindawi.com/journals/cripe/2017/4207656/ Introduction. Isotretinoin is commonly used to treat cystic acne. Definitive mechanisms of action for isotretinoin are not known though despite many side effects having been documented. Various case reports have noted autoimmune diseases succeeding isotretinoin treatment. Case Report. A 16-year-old female presents with symptoms of tremors, lack of focus, sleeplessness, emotional liability, bulging eyes, loose stools, heat intolerance, and missed menstrual periods. Symptoms manifested shortly after the patient finished a course of oral isotretinoin treatment for acne. Physical exam showed resting tremors, bilateral proptosis, hyperactivity, and rapid speech. A diagnosis of Graves’ Disease was made by correlating symptoms, physical exam findings, ultrasound, and positive family history of autoimmune thyroid disease. Conclusion. Emergence of autoimmune thyroid diseases depends upon genetic predisposition and environmental triggers. Mechanism of action for isotretinoin is not known but the drug may play a role in triggering autoimmunity in genetically susceptible individuals. Jocelyn Nugroho and Bahareh Schweiger Copyright © 2017 Jocelyn Nugroho and Bahareh Schweiger. All rights reserved. A Giant Cavernous Hemangioma of the Left Atrioventricular Groove Mon, 20 Mar 2017 00:00:00 +0000 http://www.hindawi.com/journals/cripe/2017/6898629/ A 10-year-old Chinese female diagnosed with an asymptomatic giant cardiac cavernous hemangioma was reported. The patient originally tended to observation because this unusual cardiac tumoral mass was discovered incidentally during routine health examination of transthoracic echocardiography. Over 5 years of follow-up, the mass had enlarged obviously, and the patient visited our outpatient clinic and was prone to excision. Subsequently, a total resection surgery of the tumor was performed, and the tumor was found to be located on the left atrioventricular groove with complete packing membrane. The patient was discharged on postoperative day 4 and remains asymptomatic on last follow-up. Chengming Fan, Changming Tan, Demiao Kong, Jinfu Yang, Shuwen Yuan, and Sijie Wu Copyright © 2017 Chengming Fan et al. All rights reserved. Persistent Oxygen Requirement beyond Prematurity: A Case of Acquired Pulmonary Vein Stenosis Tue, 14 Mar 2017 10:02:11 +0000 http://www.hindawi.com/journals/cripe/2017/3106871/ Acquired pulmonary vein stenosis is a rare cardiac defect and diagnosis can often be challenging, as many cases present with refractory or prolonged oxygen requirement over the expected course. Comorbid conditions can cloud this diagnosis further. Prognosis is poor for most patients. We present a case of idiopathic acquired pulmonary vein stenosis and discuss diagnostics, treatment options, and the need for further collaborative studies. Tyler A. Fick, Bernadette Richards, Carl H. Backes, and Molly K. Ball Copyright © 2017 Tyler A. Fick et al. All rights reserved. Coarctation of the Aorta as a Complication of Surgical Ligation of Patent Ductus Arteriosus in a Premature Infant Mon, 13 Mar 2017 00:00:00 +0000 http://www.hindawi.com/journals/cripe/2017/2647353/ Surgical ligation of a patent ductus arteriosus (PDA) is a commonly performed procedure. Complications are infrequent and most commonly include recurrent laryngeal nerve injury and rarely ligation of left pulmonary artery. We report a case of accidental ligation of the descending thoracic aorta leading to a clinically significant coarctation. Amna Qasim, Soham Dasgupta, Sunil K. Jain, Amyn K. Jiwani, and Ashraf M. Aly Copyright © 2017 Amna Qasim et al. All rights reserved. Seronegative Coeliac Disease in Children: A Case Report and Review of the Literature Mon, 13 Mar 2017 00:00:00 +0000 http://www.hindawi.com/journals/cripe/2017/1652052/ Serology is frequently used for the diagnosis of coeliac disease in children; however, a small proportion of children are seronegative. We present a case of seronegative coeliac disease along with literature review to include diagnostic and management dilemmas. Vinod Kolimarala, Ekta Vasita, Hany Banoub, and Sonny K. F. Chong Copyright © 2017 Vinod Kolimarala et al. All rights reserved. Transumbilical Surgery for Duodenal Stenosis in a Child with Situs Inversus: The First Report Sun, 12 Mar 2017 00:00:00 +0000 http://www.hindawi.com/journals/cripe/2017/2074387/ Background. Situs inversus is a rare congenital anomaly with a reported incidence of only 1 in 5,000 to 10,000 live births. Congenital duodenal stenosis complicated with situs inversus is an even rarer entity. Case Presentation. A 1-year-old girl with situs inversus who had undergone a hemi-Fontan procedure against a single ventricle in our hospital was referred to our department for vomiting and failure to thrive. An upper gastrointestinal contrast study and endoscopy revealed duodenal stenosis. A transumbilical radical operation as a minimally invasive surgery was successfully performed. After the surgery, she stopped vomiting, and the postoperative course was uneventful with good cosmetic results. Conclusions. To our knowledge, this is the first report of transumbilical surgery for congenital duodenal stenosis with situs inversus as minimally invasive surgery. Transumbilical surgery to situs inversus patient can be performed safely and lead to good cosmetic outcome. Isamu Saeki, Yu Ueno, Wataru Mukai, Reisuke Imaji, and Takashi Akiyama Copyright © 2017 Isamu Saeki et al. All rights reserved. Pulmonary Arteriovenous Malformation Causing Systemic Hypoxemia in Early Infancy Wed, 08 Mar 2017 07:29:52 +0000 http://www.hindawi.com/journals/cripe/2017/2841720/ Pulmonary arteriovenous malformation (AVM) is not routinely appreciated during the standard echocardiogram to assess for structural abnormalities or pulmonary hypertension. The distal pulmonary AVM is suspected only if an injection of agitated saline is performed and late entry of particles is appreciated in the left heart structures. A large or complex pulmonary AVM can result in significant right-to-left shunting and consequential systemic hypoxemia in the presence or absence of pulmonary hypertension. For direct visualization of the pulmonary AVM, computerized tomography (CT) scan is the procedure of choice. Here, we present two young infants with systemic hypoxemia who underwent standard medical management including mechanical ventilation and one patient was placed on extracorporeal membrane oxygenation (ECMO) before the diagnosis of pulmonary AVM was established. Subsequently, both patients have done well into mid-term follow-up after being treated successfully using transcatheter occlusion techniques in the cardiac catheterization laboratory during early infancy. We aim to emphasize the importance of a high index of suspicion for pulmonary AVM in infants with refractory systemic hypoxemia of unclear etiology. V. Aggarwal, D. M. Khan, and J. F. Rhodes Copyright © 2017 V. Aggarwal et al. All rights reserved.