Case Reports in Pediatrics https://www.hindawi.com The latest articles from Hindawi © 2017 , Hindawi Limited . 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. Anti-K1 (Kell) Antibody Expressed in Maternal Breastmilk: A Case Report of a Neonate with Multiple Intrauterine Transfusions and Postnatal Exposure to Kell Antibody in Maternal Breastmilk Sun, 05 Mar 2017 00:00:00 +0000 http://www.hindawi.com/journals/cripe/2017/6927813/ Hemolytic disease of the fetus and newborn is a common consideration in newborn medicine, especially among the jaundiced. Maternal breastmilk provides numerous benefits to the infant, including nutrition and immunologic factors. Here, we present an infant who received three intrauterine transfusions for anemia secondary to anti-K1 (Kell), anti-C, and anti-e antibodies and whose maternal breastmilk tested positive for anti-Kell antibodies. The infant required another transfusion at 4 weeks of life for anemia. We review the pathophysiology of anti-Kell antibodies, the immunology of breast milk, and the intersection of these two topics. Patrick DeMoss, Mohamed Asfour, and Kelly Hersey Copyright © 2017 Patrick DeMoss et al. All rights reserved. A Wandering Abdominal Mass in a Neonate: An Enteric Duplication Cyst Mimicking an Ovarian Cyst Thu, 02 Mar 2017 00:00:00 +0000 http://www.hindawi.com/journals/cripe/2017/9209126/ Enteric duplication cysts are rare congenital anomalies that are prenatally diagnosed through antenatal ultrasonography (US). In female patients, however, attention must be paid since these formations might be confused with ovarian cysts. Herein, we present a case of a low birth weight female infant with an enteric duplication cyst. A cystic lesion was detected in the right abdomen of the fetus on antenatal US and magnetic resonance imaging (MRI). Serial US and MRI examinations performed after birth showed a single cyst that wandered from side to side in the abdomen; the initial diagnosis was thought to be an ovarian cyst. During laparotomy, however, it was found to be an enteric duplication cyst with volvulus. To our knowledge, there has been no report of an enteric duplication cyst presenting as a wandering abdominal mass. Our experience indicates that early intervention is necessary for patients who have a wandering abdominal mass to avoid complications and urgent surgery, whether it is an ovarian cyst or an enteric duplication cyst. Shigeo Iijima Copyright © 2017 Shigeo Iijima. All rights reserved. Gastric Duplication: A Rare Cause of Recurrent Vomiting Wed, 01 Mar 2017 10:02:19 +0000 http://www.hindawi.com/journals/cripe/2017/2348274/ Vomiting is a physical finding that can occur at any age but presents the greatest challenge when it is recurrent in a child. The etiology is varied (Sieunarine and Manmohansingh, 1989; Suzuki, 1982), and recurrent vomiting can be a symptom of life threatening medical or surgical emergencies. Early recognition is mandatory for preventing delay in management and potential complications. Gastric duplication is rare and mostly diagnosed in infancy with only a few cases documented in the medical literature presenting in childhood. We present a three-year-old Vietnamese female with recurrent vomiting. Obstruction and sepsis were ruled out as a cause of the recurrent vomiting by history and appropriate tests. Persistent vomiting and paucity of air on the plain abdominal films provided a clue to the diagnosis. A CT scan of the abdomen with contrast revealed a uniformly thin walled fluid attenuation mass in the epigastric region which did not opacify with contrast. An abdominal ultrasound confirmed gastric duplication cyst and the patient was taken to the operating room for excision of the cyst. Brahmananda Koduri, Katie McHale, Christina Yost, Michael H. Goodman, and Dennis Hoelzer Copyright © 2017 Brahmananda Koduri et al. All rights reserved. Osteonecrosis of the Femoral Head in an Adolescent on Long-Term Inhalational Corticosteroids Tue, 28 Feb 2017 11:12:33 +0000 http://www.hindawi.com/journals/cripe/2017/6969787/ A relationship between the development of osteonecrosis of the femoral head and systemic corticosteroids has been well established in the literature, particularly in adults. However, the link between osteonecrosis and inhaled corticosteroids is less researched and understood. We report an usual case report of a 10-year-old male who developed ipsilateral femoral head osteonecrosis after long-term inhalational corticosteroid and intermittent short courses of oral steroid usage with a unique presentation and delayed diagnosis. Anthony C. Egger and R. Tracy Ballock Copyright © 2017 Anthony C. Egger and R. Tracy Ballock. All rights reserved. Cervical Stimulation in the Treatment of Children with Lymphedema of All Four Extremities: A Case Report and Literature Review Tue, 28 Feb 2017 08:44:37 +0000 http://www.hindawi.com/journals/cripe/2017/9724524/ Aim. The aim of this study is to report on the use of cervical stimulation as monotherapy to reduce swelling and normalize the size of limbs in two children with lymphedema of all four extremities. Case Presentation. One child also had hemifacial edema. In both cases, the mothers were trained to perform cervical stimulation under professional supervision. The cases of two girls, one of eight months and the other of six months, with primary congenital lymphedema are described. Outcome. After clinical diagnosis, the patients started treatment with cervical stimulation three times per week. The mothers were trained in cervical stimulation and, when the therapy team was confident about the mothers’ ability to perform the technique, the children began to be treated at home. The Godoy & Godoy cervical stimulation technique consists of around 20 to 30 light stroking movements per minute in the cervical region which stimulate the lymphatics. Perimetric measurements were made of the feet, legs, and the hands. Only two points (3 and 6 cm) along the dorsum of the feet and hands and points at 5 cm intervals up the legs starting at the ankle were considered. Today, the children are 5 and 6 years of age, without edema and with a normal life, without limitations, except with respect to precautions against injuries to the limbs and against infections particularly erysipelas. Conclusion. Cervical Lymphatic Therapy as monotherapy is an option in the treatment of primary congenital lymphedema. Livia Maria Pereira de Godoy, Paula Pereira de Godoy Capeletto, José Maria Pereira de Godoy, and Maria de Fátima Guerreiro Godoy Copyright © 2017 Livia Maria Pereira de Godoy et al. All rights reserved. Propylene Glycol Toxicity in Adolescent with Refractory Myoclonic Status Epilepticus Sun, 26 Feb 2017 08:03:23 +0000 http://www.hindawi.com/journals/cripe/2017/2979486/ 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 http://www.hindawi.com/journals/cripe/2017/6368239/ 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 http://www.hindawi.com/journals/cripe/2017/4542321/ 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 http://www.hindawi.com/journals/cripe/2017/1479012/ 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 http://www.hindawi.com/journals/cripe/2017/5483543/ 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 http://www.hindawi.com/journals/cripe/2017/4039358/ 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.