Case Reports in Pediatrics https://www.hindawi.com The latest articles from Hindawi © 2017 , Hindawi Limited . All rights reserved. Corrigendum to “Niemann-Pick Disease Type C Presenting as a Developmental Coordination Disorder with Bullying by Peers in a School-Age Child” Wed, 20 Sep 2017 00:00:00 +0000 http://www.hindawi.com/journals/cripe/2017/4120361/ Ryo Suzuki, Atsushi Tanaka, Toshiharu Matsui, Tetsuki Gunji, Jun Tohyama, Aya Narita, Eiji Nanba, and Kousaku Ohno Copyright © 2017 Ryo Suzuki et al. All rights reserved. Transient Ischemic Attack and Ischemic Stroke in Danon Disease with Formation of Left Ventricular Apical Thrombus despite Normal Systolic Function Wed, 20 Sep 2017 00:00:00 +0000 http://www.hindawi.com/journals/cripe/2017/6576382/ Danon disease is a rare X-linked dominant skeletal and cardiac muscle disorder presenting with hypertrophic cardiomyopathy, Wolf-Parkinson-White syndrome, skeletal myopathy, and mild intellectual disability. Early morbidity and mortality due to heart failure or sudden death are known in Danon disease, more in males than in females. Here, we present a 17-year-old female adolescent with Danon disease and severe concentric hypertrophy with normal left ventricular (LV) systolic function, who has been complaining of intermittent headache and weakness for about 3 years, initially diagnosed with hemiplegic migraine. Subsequently, her neurological manifestation progressed to transient ischemic attack (TIA) and eventually to ischemic stroke confirmed by CT scan with 1-day history of expressive aphasia followed by persistent left side weakness and numbness. Detailed echocardiogram for the first time revealed a small LV apical thrombus with unchanged severe biventricular hypertrophy and normal systolic function. This unexpected LV apical thrombus may be associated with a wide spectrum of neurological deficits ranging from TIA to ischemic stroke in Danon disease. Possibility of cerebral ischemic events should be suspected in Danon disease when presenting with neurological deficits even with normal systolic function. Careful assessment for LV apical thrombus is warranted in such cases. Takeshi Tsuda, Amanda J. Shillingford, Jane Vetter, Vinay Kandula, Badal Jain, and Joel Temple Copyright © 2017 Takeshi Tsuda et al. All rights reserved. Spiral Fracture in Young Infant Causing a Diagnostic Dilemma: Nutritional Rickets versus Child Abuse Tue, 19 Sep 2017 08:03:25 +0000 http://www.hindawi.com/journals/cripe/2017/7213629/ Fractures are uncommon in young, nonambulatory infants. The differential diagnosis includes nonaccidental injury (NAI) and metabolic bone disease, including rickets. While rickets typically present after six months of age, multiple cases have been reported in younger infants. We report a case of an 11-week-old male infant who presented with a spiral fracture of the humerus and no radiologic evidence of rickets. A detailed psychosocial assessment failed to reveal any risk factors for NAI. The patient had elevated alkaline phosphatase and PTH with low 25 hydroxyvitamin D and 1,25 dihydroxyvitamin D levels. Additionally, the mother was noncompliant with prenatal vitamins, exclusively breastfeeding without vitamin D supplementation, and had markedly low vitamin D levels 15 weeks postpartum. The biochemical data and history were consistent with rickets. Given the diagnostic dilemma, the working diagnosis was rickets and the patient was started on ergocalciferol with subsequent normalization of his laboratory values and healing of the fracture. These findings are consistent with nutritional rickets largely due to maternal-fetal hypovitaminosis D. This case highlights that in young infants rickets should be considered even in the absence of positive radiologic findings. Additionally, it illustrates the importance of maintaining adequate vitamin D supplementation during pregnancy and early infancy. Sonia Kaushal, Manish Raisingani, Raphael David, and Bina Shah Copyright © 2017 Sonia Kaushal et al. All rights reserved. Immune Thrombocytopenia in a Child with Neuroblastoma Thu, 14 Sep 2017 07:39:54 +0000 http://www.hindawi.com/journals/cripe/2017/1329489/ Thrombocytopenia is a frequent finding in patients with solid tumors. It is usually caused by bone marrow infiltration or by myelosuppression due to anticancer therapy; however immune thrombocytopenia (ITP) associated with solid tumors is rare. Neuroblastoma is the most common extracranial solid tumor in children. Here we report the case of a two-year-nine-month-old patient with adrenal neuroblastoma who presented with ITP. Paraneoplastic ITP was considered in the differential diagnosis. Bone marrow infiltration and other causes of thrombocytopenia were excluded and the patient was treated with intravenous immunoglobulin and tumor resection. Platelet count increased rapidly after surgery and complete remission of ITP was achieved. Hasan Tarkan Ikizoglu, Inci Ayan, Fatma Tokat, Tulay Tecimer, and Gonca Topuzlu Tekant Copyright © 2017 Hasan Tarkan Ikizoglu et al. All rights reserved. Caudal Regression and Encephalocele: Rare Manifestations of Expanded Goldenhar Complex Tue, 12 Sep 2017 07:22:46 +0000 http://www.hindawi.com/journals/cripe/2017/4396142/ Oculoauriculovertebral spectrum, or Goldenhar Syndrome, is a condition characterized by variable degrees of uni- or bilateral involvement of craniofacial structures, ocular anomalies, and vertebral defects. Its expressivity is variable; therefore, the term “expanded Goldenhar complex” has been coined. The Goldenhar Syndrome usually involves anomalies in craniofacial structures, but it is known that nervous system anomalies, including encephalocele or caudal regression, may, rarely, occur in this condition. We report two rare cases of infants affected by Goldenhar Syndrome, associated with neural tube defects, specifically caudal regression syndrome and nasal encephaloceles, to underline the extremely complex and heterogeneous clinical features of this oculoauriculovertebral spectrum. These additional particular cases could increase the number of new variable spectrums to be included in the “expanded Goldenhar complex.” Gabriella D’Angelo, Lucia Marseglia, Salvatore Aversa, Sara Manti, Caterina Cuppari, Mariaconcetta Cutrupi, Carmelo Salpietro, and Eloisa Gitto Copyright © 2017 Gabriella D’Angelo et al. All rights reserved. Resolution of Periodic Breathing in a Child with Idiopathic Pulmonary Arterial Hypertension Wed, 23 Aug 2017 00:00:00 +0000 http://www.hindawi.com/journals/cripe/2017/3280572/ Central sleep apnea (CSA) and periodic breathing are unusual findings described in pediatric patients with congestive heart failure. However, CSA has not been reported in children with pulmonary hypertension. We hereby report on a 10-year-old girl with idiopathic pulmonary arterial hypertension who had frequent central events in a periodic breathing fashion seen in her polysomnography, which was normalized following medical treatment leading to improvement of the pulmonary pressures. Saadoun Bin-Hasan, Abdullah Khayat, Tilman Humpl, Janette T. Reyes, and Suhail Al-Saleh Copyright © 2017 Saadoun Bin-Hasan et al. All rights reserved. Physiotherapy and Rehabilitation in a Child with Joubert Syndrome Wed, 23 Aug 2017 00:00:00 +0000 http://www.hindawi.com/journals/cripe/2017/8076494/ Objective. Joubert syndrome (JS) is a rare autosomal recessive genetic disorder characterized by brain malformation, hypotonia, breathing abnormalities, ataxia, oculomotor apraxia, and developmental delay. The purpose of this study was to report the efficiency of the physiotherapy and rehabilitation program in a child with JS. Materials and Methods. Our case is a 19-month-old female child with mild clinical signs of JS. The pretreatment and posttreatment motor functioning level of the case was evaluated through the Gross Motor Function Measure (GMFM), whereas the independence level was evaluated through the Pediatric Functional Independence Measure (WeeFIM). The case was included in the rehabilitation program by the physiotherapist for one hour for five days a week throughout the period of 13 months in accordance with the neurodevelopmental treatment principles. Results. The case was able to turn around from the supine position to the reverse direction by oneself, and she was able to rise on her forearms facedown and was able to sit, crawl, and walk independently. The GMFM score was 210, whereas WeeFIM score was 65. Discussion. In the direction of those findings, in Joubert Syndrome, physiotherapy and rehabilitation can be effective in coping with the symptoms causing developmental delay. Özge İpek, Özge Akyolcu, and Banu Bayar Copyright © 2017 Özge İpek et al. All rights reserved. Appendicitis Caused by Primary Varicella Zoster Virus Infection in a Child with DiGeorge Syndrome Wed, 16 Aug 2017 06:55:27 +0000 http://www.hindawi.com/journals/cripe/2017/6708046/ Introduction. Chickenpox is caused by varicella zoster virus (VZV). Although predominantly a mild disease, it can cause considerable morbidity and in rare occasions even mortality in healthy children as well as increased morbidity and mortality in immunocompromised patients. The aetiology of appendicitis is largely unknown but is thought to be multifactorial. Appendicitis is a suspected, but not well documented, complication from varicella zoster virus infection. Case Presentation. A five-year-old girl diagnosed with DiGeorge syndrome and a prolonged primary VZV infection was admitted due to abdominal pain, increasing diarrhoea, vomiting, and poor general condition. She developed perforated appendicitis and an intraperitoneal abscess. VZV DNA was detected by PCR in two samples from the appendix and pus from the abdomen, respectively. The child was treated with acyclovir and antibiotics and the abscess was drained twice. She was discharged two weeks after referral with no sequela. Conclusion. Abdominal pain in children with viral infections can be a challenge, and appendicitis has to be considered as a complication to acute viral diseases, especially if the child is immunocompromised. Lotte Møller Smedegaard, Claus Bohn Christiansen, Linea Cecilie Melchior, and Anja Poulsen Copyright © 2017 Lotte Møller Smedegaard et al. All rights reserved. Severe Hepatopulmonary Syndrome in a Child with Caroli Syndrome Sun, 13 Aug 2017 07:58:22 +0000 http://www.hindawi.com/journals/cripe/2017/2171974/ Hepatopulmonary Syndrome (HPS) is a potential complication of chronic liver disease and is more commonly seen in the adult population. Caroli Syndrome is a rare inherited disorder characterized by intrahepatic ductal dilation and liver fibrosis that leads to portal hypertension. In children with liver disease, HPS should be considered in the differential diagnosis of prolonged, otherwise unexplained, hypoxemia. The presence of HPS can improve patient priority on the liver transplantation wait list, despite their Pediatric End-Stage Liver Disease (PELD) score. We present a 6-year-old girl with Caroli Syndrome and End-Stage Renal Disease who presented with persistent hypoxemia. The goal of this report is to increase awareness of HPS in children. W. De Jesus-Rojas, K. McBeth, A. Yadav, J. M. Stark, R. A. Mosquera, and C. Jon Copyright © 2017 W. De Jesus-Rojas et al. All rights reserved. Long Standing Esophageal Perforation due to Foreign Body Impaction in Children: A Therapeutic Challenge in a Resource Limited Setting Tue, 08 Aug 2017 06:53:52 +0000 http://www.hindawi.com/journals/cripe/2017/9208474/ Late presentation of foreign body impaction in the esophagus, complicated by perforation in children, has rarely been reported in the literature. Esophageal surgery is very difficult and challenging in Cameroon (a resource limited setting). We are reporting herein 2 cases of esophageal perforation in children seen very late (12 days and 40 days) after foreign body impaction, complicated with severe sepsis, who were successfully operated upon with very good results. Ngo Nonga Bernadette, Jean Jacques Ze, Angele O. Pondy, Claude M. Kalla, Nelly Kamgaing, and Daniel Handy Eone Copyright © 2017 Ngo Nonga Bernadette et al. All rights reserved. Split-Hand Malformation in a 4-Year-Old Child Thu, 03 Aug 2017 00:00:00 +0000 http://www.hindawi.com/journals/cripe/2017/6073619/ Split-hand deformity is one of the milder manifestations of a congenital disorder called split-hand/split-foot malformation. We present a case of a 4-year-old child with split-hand malformation in his left hand since birth. A median cleft was present in the affected hand with absence of the 3rd and 4th digits, giving rise to a characteristic lobster-claw appearance. Functionality of the affected hand was modestly impaired. As none of the close family members of the patient had similar limb malformations, the deformity was postulated to arise most likely from a de novo mutation. The patient was discharged after the parents were provided with genetic counseling. Girish Gulab Meshram, Kanwaljeet Singh Hura, and Neeraj Kaur Copyright © 2017 Girish Gulab Meshram et al. All rights reserved. Late Onset Cobalamin Disorder and Hemolytic Uremic Syndrome: A Rare Cause of Nephrotic Syndrome Tue, 01 Aug 2017 08:36:06 +0000 http://www.hindawi.com/journals/cripe/2017/2794060/ Hemolytic uremic syndrome (HUS) is an unrare and severe thrombotic microangiopathy (TMA) caused by several pathogenetic mechanisms among which Shiga toxin-producing Escherichia coli infections and complement dysregulation are the most common. However, very rarely and particularly in neonates and infants, disorders of cobalamin metabolism (CblC) can present with or be complicated by TMA. Herein we describe a case of atypical HUS (aHUS) related to CblC disease which first presented in a previously healthy boy at age of 13.6 years. The clinical picture was initially dominated by nephrotic range proteinuria and severe hypertension followed by renal failure. The specific treatment with high dose of hydroxycobalamin rapidly obtained the remission of TMA and the complete recovery of renal function. We conclude that plasma homocysteine and methionine determinations together with urine organic acid analysis should be included in the diagnostic work-up of any patient with TMA and/or nephrotic syndrome regardless of age. Gianluigi Ardissino, Michela Perrone, Francesca Tel, Sara Testa, Amelia Morrone, Ilaria Possenti, Francesco Tagliaferri, Robertino Dilena, and Francesca Menni Copyright © 2017 Gianluigi Ardissino et al. All rights reserved. First Report on Fetal Cerebral Polyglucosan Bodies in Mucopolysaccharidosis Type VII Mon, 10 Jul 2017 07:37:08 +0000 http://www.hindawi.com/journals/cripe/2017/9523427/ We report on the detection of discordant inclusions in the brain of a 25-week female fetus with a very rare lysosomal storage disease, namely, Sly disease (mucopolysaccharidosis (MPS) type VII), presenting with nonimmune hydrops fetalis. Besides vacuolated neurons, we found abundant deposition of polyglucosan bodies (PGBs) in the developing brain of this fetus in whom MPS-VII was corroborated by lysosomal beta-glucuronidase-deficiency detected in fetal blood and fetal skin-fibroblasts and by the presence of a heterozygous pathogenic variant in the GUSB gene in the mother. Fetal/neonatal metabolic disorders with PGB-deposition are extremely rare (particularly in relation to CNS involvement) and include almost exclusively subtypes of glycogenosis (types IV and VII). The accumulation of PGBs (particularly in the fetal brain) has so far not been depicted in Sly disease. This is the first report on such “aberrant” association. Besides, the detection of these CNS inclusions at such an early developmental stage is remarkably unique. Hazim Kadhim, Valérie Segers, Catheline Vilain, Julie Désir, and Nicky D’Haene Copyright © 2017 Hazim Kadhim et al. All rights reserved. New Onset Insomnia in a Pediatric Patient: A Case of Anti-NMDA Receptor Encephalitis Sun, 09 Jul 2017 06:33:35 +0000 http://www.hindawi.com/journals/cripe/2017/4083785/ Anti-NMDAR encephalitis is becoming more widely recognized as a cause of encephalopathy in both adults and children. Certain clinical features such as mood lability, movement disorders, speech dysfunction, seizures, and autonomic instability in a pediatric patient should prompt immediate concern and evaluation for autoimmune encephalitis among providers. We present the case of a pediatric patient with anti-NMDAR encephalitis in which the symptom prompting medical evaluation was insomnia. Insomnia has not previously been emphasized in the literature as a presenting feature of this disease in children and has a broad differential. Recognition of the symptoms of anti-NMDAR encephalitis and its variable presentation are key to early diagnosis and prompt initiation of treatment which may help to improve outcomes. Tamar N. Goldberg and Michael F. Cellucci Copyright © 2017 Tamar N. Goldberg and Michael F. Cellucci. All rights reserved. Corrigendum to “Management Challenges in a Child with Chronic Hyponatremia: Use of V2 Receptor Antagonist” Sun, 02 Jul 2017 09:38:38 +0000 http://www.hindawi.com/journals/cripe/2017/8132129/ Sowmya Krishnan, Swapna Deshpande, Ashwini Mallappa, Divya Gunda, Pascale Lane, Anu Vishwanath, and Rene Y. McNall-Knapp Copyright © 2017 Sowmya Krishnan et al. 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.