Case Reports in Pediatrics https://www.hindawi.com The latest articles from Hindawi © 2017 , Hindawi Limited . All rights reserved. Chiari 1 Malformation in a Child with Febrile Seizures, Parasomnias, and Sleep Apnea Syndrome Sun, 17 Dec 2017 00:00:00 +0000 http://www.hindawi.com/journals/cripe/2017/8189790/ Introduction. The type I is the most common Chiari malformation in children. In this condition, the lower part of the cerebellum, but not the brain stem, extends into the foramen magnum at the base of the skull leading to disturbances in cerebrospinal fluid circulation and to direct compression of nervous tissue. Case report. We describe a 4-year-old Caucasian female child with febrile seizures, headache, parasomnias, and a delay of speech. The child underwent a magnetic resonance imaging to investigate these neurological signs, disclosing a Chiari malformation type 1. The polysomnography showed a mild-moderate sleep-disordered breathing, increased number of central sleep apneas, and generalized spike waves at sleep onset. Conclusions. Seizures have been seldom described in CM1 patients. The main reasons for performing MRI in this case were frequent seizures, a delay of speech, and headache, leading to an unexpected diagnosis of CM1. Polysomnography detected a discrete SDB. Marco Zaffanello, Francesca Darra, Tommaso Lo Barco, Francesco Sala, Emma Gasperi, and Giorgio Piacentini Copyright © 2017 Marco Zaffanello et al. All rights reserved. A Singleton Infant with Bilateral Renal Agenesis and Normal Pulmonary Function Mon, 27 Nov 2017 00:00:00 +0000 http://www.hindawi.com/journals/cripe/2017/1710371/ Bilateral renal agenesis leads to anhydramnios and other sequelae including pulmonary hypoplasia. There have been rare case reports of normal pulmonary function in the presence of bilateral renal agenesis in monoamniotic discordant twins, but this has never been reported in a singleton pregnancy. The few reported cases in twins have all been fatal in the neonatal period with no reported cases of survival beyond 2 months. We describe the first case of a singleton infant with bilateral renal agenesis who had normal pulmonary function and did well on peritoneal dialysis for 4 years while awaiting a renal transplant. Lovya George, Winston Manimtim, and Jotishna Sharma Copyright © 2017 Lovya George et al. All rights reserved. Seronegative Myasthenia Gravis, as a Rare Autoimmune Condition in Turner Syndrome Tue, 14 Nov 2017 00:00:00 +0000 http://www.hindawi.com/journals/cripe/2017/6863938/ Girls with Turner syndrome (TS), especially with isochromosome 46,X,i(X)(q10), are prone to develop autoimmunity. Associations of several autoimmune conditions with TS have been frequently described in the past. However, the unique combination of TS and myasthenia gravis (MG) has been reported only once before in a girl with mosaic monosomy 45,X/46,XX. Here, we present the second case of a girl affected with seronegative MG but with mosaic isochromosome TS. This is a child with developmental delay presented with muscle weakness, frequent fall, and bilateral ptosis. Diagnosis of MG was made based on positive Tensilon and electromyography tests and excellent response to intravenous immunoglobulin. At the age of 11 years due to short stature and developmental delay, a karyotype was done and revealed the mosaic isochromosome 45,X/46,X,i(X)(q10). Overall, clinicians should be aware of the vulnerability of girls with TS to autoimmunity, especially if the isochromosome 46,X,i(X)(q10) karyotype is identified. Furthermore, if a child with TS develops muscle weakness, ptosis, or ophthalmoplegia, MG should also be included in the differential diagnosis, particularly if other concurrent autoimmune conditions are present. Rimah Sharief, Amir Miodovnik, and Roja Motaghedi Copyright © 2017 Rimah Sharief et al. All rights reserved. Corrigendum to “Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene” Tue, 14 Nov 2017 00:00:00 +0000 http://www.hindawi.com/journals/cripe/2017/9861278/ Amna Ahmed and Badr Alsaleem Copyright © 2017 Amna Ahmed and Alsaleem All rights reserved. Pancreatic Laceration in a Pediatric Patient: An Unexpected Diagnosis Thu, 02 Nov 2017 06:36:42 +0000 http://www.hindawi.com/journals/cripe/2017/2681835/ Pediatric pancreatic injuries are rare. We present an atypical case that occurred in a 4-year-old male. The child presented with a twenty-four-hour history of vomiting that had progressed to right lower quadrant abdominal pain on examination in the emergency department. The initial differential was gastroenteritis versus appendicitis. An abnormality on the ultrasonography and an elevated lipase level eventually led to an MRI showing a complete transection through the posterior margin of the pancreas. The patient was admitted to pediatric surgery and underwent a successful distal pancreatectomy with preservation of the spleen. On further inquiry specific to trauma, the child disclosed that his older brother had punched him in his abdomen the night before. The child’s parents were separated due to intimate partner violence, and this older sibling recently had been very stressed. The sibling was referred for mental health evaluation and counseling, and the case reported to the county children and youth investigative services system. A low threshold for considering trauma and child abuse in the pediatric population is recommended when significant intra-abdominal injury is diagnosed. Michelle J. Hong, Lauren M. Porter, Debra D. Esernio-Jenssen, Andrew C. Miller, and Marna Rayl Greenberg Copyright © 2017 Michelle J. Hong et al. All rights reserved. Acute Hematogenous Osteomyelitis in a Five-Month-Old Male with Rickets Tue, 31 Oct 2017 00:00:00 +0000 http://www.hindawi.com/journals/cripe/2017/4627905/ Osteomyelitis is defined as an infection of the bone, bone marrow, and the surrounding soft tissues. Most cases of acute hematogenous osteomyelitis in children are caused by Gram-positive bacteria, principally Staphylococcus aureus. We present a case where a 5-month-old male had an acute onset of decreased movement of his left leg and increased irritability and was subsequently diagnosed with rickets and hematogenous osteomyelitis with bacteremia. The case explores a possible association between hematogenous osteomyelitis and rickets. Minnie John, Aseel Al-Jadiri, Christabelle Co, Maher Abulfaraj, and Lucia J. Santiago Copyright © 2017 Minnie John et al. All rights reserved. Keeping an Open Mind: Cognitive Bias in the Evaluation of an Infant with Posterior-Lateral Rib Fractures Thu, 26 Oct 2017 00:00:00 +0000 http://www.hindawi.com/journals/cripe/2017/5163094/ A four-month-old former premature male is incidentally found to have posterior-lateral rib fractures during evaluation of a febrile illness. This finding led to the initiation of a workup for nonaccidental trauma. A thorough history and physical exam ultimately led to the diagnosis, which was not related to abuse. This case highlights a rare sequela of patent ductus arteriosus repair, cautions medical teams to remain aware of how cognitive bias can affect diagnostic decision-making, and emphasizes the importance of a thorough history, physical exam, and medical record review in cases of suspected nonaccidental trauma. Katie Johnson, Donald Chris Derauf, Raymond Stetson, Paul Galardy, and Jason Homme Copyright © 2017 Katie Johnson et al. All rights reserved. An Acquired Form of Dandy-Walker Malformation with Enveloping Hemosiderin Deposits Wed, 25 Oct 2017 00:00:00 +0000 http://www.hindawi.com/journals/cripe/2017/3861608/ Dandy-Walker malformation (DWM) is a posterior fossa anomaly characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. The cyst of DWM rarely extends posteriorly to almost completely fill the entire posterior fossa, which mimics primary cerebellar agenesis, a cerebellar porencephalic cyst, and an arachnoid cyst due to the lack of clarity of the thin cystic wall. A 10-month-old female born at 23 weeks’ gestation with cerebellar hemorrhage in the neonatal period was admitted to our hospital with dysphagia and side-to-side head bobbing. The detection of hemosiderin deposits enveloping the cyst wall by T2 star-weighted angiography (SWAN) was useful for the differential diagnosis of an acquired form of DWM from primary cerebellar agenesis. Cyst fenestration successfully improved dysphagia and head bobbing. A pathological specimen of the perforated cyst consisted of collagen fibers with hemosiderin deposits but lacked congenital cyst components. In infants with posterior fossa cysts, SWAN will be useful for a differential diagnosis between DWM and primary cerebellar agenesis. Tadashi Shiohama, Ryo Ando, Katsunori Fujii, Hiroki Mukai, Yuki Naruke, Katsuo Sugita, Eiji Kato, and Naoki Shimojo Copyright © 2017 Tadashi Shiohama et al. All rights reserved. Cystic Lymphangioma of the Chest Wall in a 5-Year-Old Male Patient: A Rare and Atypical Localization—A Case Report and Comprehensive Review of the Literature Mon, 23 Oct 2017 06:13:43 +0000 http://www.hindawi.com/journals/cripe/2017/2083204/ Lymphangioma is a benign congenital malformation. The extremely rare and atypical localization of a lymphangioma in the chest wall was the real motive for the present case study. A 5-year-old boy was admitted to the Emergency Department of the 1st Department of Pediatric Surgery, Aristotle University of Thessaloniki, due to the presence of a mildly painful swelling in the left lateral chest wall, which was first noticed three months ago, after a blunt injury during sport. Physical examination revealed the presence of a palpable, spherical, painful, nut-sized subcutaneous lesion in the left lateral chest wall, respectively, with the anterior axillary line, at the height of the 6th to 7th intercostal space. Presence of ecchymosis on the overlying skin was also noticed. During palpation, we did not notice fluctuation, while transillumination was not feasible. Performance of ultrasonography, including Doppler color flow imaging, followed, depicting a subcutaneous cystic lesion,  cm in dimensions, without extension to the thoracic cavity. Scheduled surgical excision of the lesion was decided. Histopathological examination documented the diagnosis of cystic lymphangioma. Patient is still followed up on a 6-month basis. He remains asymptomatic, after 2 years, without indication of relapse. Dimitrios Patoulias, Ioannis Patoulias, Christos Kaselas, Maria Kalogirou, Chatzopoulos Kyriakos, Farmakis Konstantinos, Thomas Feidantsis, and Papacrivou Eleni Copyright © 2017 Dimitrios Patoulias et al. All rights reserved. Atypical Presentation of Sjögren-Larsson Syndrome Wed, 18 Oct 2017 00:00:00 +0000 http://www.hindawi.com/journals/cripe/2017/7981750/ Sjögren-Larsson syndrome is a rare neurocutaneous disorder characterized by ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. Herein, we describe a case of a Greek patient with ichthyosis and spasticity of the legs but with normal intelligence (IQ 95). This syndrome should be suspected when a child presents with ichthyosis and spastic diplegia or tetraplegia, even if intelligence is normal. D. Papathemeli, A. Mataftsi, A. Patsatsi, D. Sotiriadis, M. Samouilidou, S. Chondromatidou, and A. Evangeliou Copyright © 2017 D. Papathemeli et al. All rights reserved. Evans Syndrome Complicated by Intratubular Hemoglobin Cast Nephropathy Sun, 15 Oct 2017 00:00:00 +0000 http://www.hindawi.com/journals/cripe/2017/5184587/ Evans syndrome (ES) is a rare autoimmune disorder whose exact pathophysiology is unknown. It is characterized by the simultaneous or subsequent development of autoimmune hemolytic anemia (AIHA) and immune thrombocytopenia (ITP). Intravascular hemolysis, with hemoglobinemia, is known to produce acute kidney injury; however, the development of intratubular hemoglobin casts (hemoglobin cast nephropathy) in the setting of acute hemolysis is uncommon. Likewise, the association of ES and acute renal failure is equally uncommon. We present a case of a 7-year-old girl with ES who developed acute kidney injury in the setting of intravascular hemolysis and had widespread intratubular hemoglobin casts. Iván González, Rehan Rais, Joseph P. Gaut, and Louis P. Dehner Copyright © 2017 Iván González et al. All rights reserved. Connatal Urinary Ascites in a Female Preterm Wed, 11 Oct 2017 00:00:00 +0000 http://www.hindawi.com/journals/cripe/2017/6760218/ Background. Connatal urinary ascites is rare in females without associated malformations and occurs following bladder rupture. Case Presentation. A female very preterm was delivered by caesarean section because of abnormal Doppler findings. The mother suffered from viral pneumonia requiring intensive care in the third trimester of pregnancy. Serial fetal ultrasound examinations showed a megacystis and ascites. Postnatally, pronounced isolated ascites was drained and its urinary nature was confirmed. The bladder leak was demonstrated when blue dye, instilled via a Foley catheter, appeared in the ascitic drain. After removal of the catheter spontaneous micturition was unremarkable. A micturating cystourethrogram showed spontaneous closure of the bladder leak. Conclusion. The female infant experienced fetal bladder rupture and connatal urinary ascites due to maternal pneumonia and intensive care. The use of blue dye is an effective alternative method to any contrast media radiography and should be considered, especially in very preterm infants. Barbara Brunner, Elisabeth Ralser, Elisabeth D’Costa, Kathrin Maurer, Ursula Kiechl-Kohlendorfer, and Elke Griesmaier Copyright © 2017 Barbara Brunner et al. All rights reserved. An Unusual Mechanism of Closure of Muscular Ventricular Septal Defects Tue, 10 Oct 2017 00:00:00 +0000 http://www.hindawi.com/journals/cripe/2017/4303298/ Ventricular septal defects (VSDs) are the most common congenital heart defects. Most of the small or moderate size (<6 mm) muscular VSDs close spontaneously within the first two years of life. The usual mechanism of spontaneous closure involves muscular tissue encroachment with superimposed fibrosis or primary fibrous tissue formation around the margins of the defect. We describe an unusual mechanism of spontaneous closure of a muscular VSD. Soham Dasgupta and Ashraf M. Aly Copyright © 2017 Soham Dasgupta and Ashraf M. Aly. All rights reserved. 10-Year-Old Female with Acute Abdominal Pain with Pancreatic Mass Mon, 09 Oct 2017 00:00:00 +0000 http://www.hindawi.com/journals/cripe/2017/3253787/ A previously healthy 10-year-old female presented to a local emergency department following three days of nausea and vomiting diagnosed with a solid pseudopapillary tumor. Solid pseudopapillary neoplasms are a rare form of pancreatic cystic neoplasm that typically presents in young females in their 20–30s and are very rare in children. These neoplasms often present as an asymptomatic tumor found on incidental imaging. When symptomatic they most commonly present with abdominal pain and can also cause a palpable abdominal mass, weight loss, gastrointestinal obstruction, and nausea and vomiting. Timely diagnosis of this rare neoplasm is very important because complete resection of the tumor is the definitive treatment and leads to an excellent long-term survival. Charles K. Powers, Molly Posa, Dhanashree Rajderkar, and Jaclyn Otero Copyright © 2017 Charles K. Powers et al. All rights reserved. The Utility of MRI in the Diagnosis of Takayasu Arteritis Sun, 08 Oct 2017 06:53:41 +0000 http://www.hindawi.com/journals/cripe/2017/7976165/ Takayasu Arteritis (TA) is an inflammatory disorder involving the thoracoabdominal aorta and its branches and the pulmonary arteries, with eventual vascular stenosis, occlusion, or aneurysm formation. Conventional angiography has been the reference imaging standard for diagnosis of TA. The purpose of this case report is to demonstrate the utility of MR imaging and MR angiography in the diagnosis of Takayasu Arteritis in a pediatric patient. The patient is a 15-year-old female patient presenting with anemia, hypertension, and acute kidney injury. Initial chest CT demonstrated ectasia of the ascending and focal stenosis of the descending thoracic aorta, prompting further evaluation with MRI and MRA. MRI/MRA demonstrated mural thickening with luminal stenosis of the aorta and aortic branch vessels. These imaging findings were suggestive of a large vessel arteritis and along with the clinical presentation and laboratory abnormalities the diagnosis of Takayasu Arteritis was suggested. Several case series in adults have described the cross-sectional findings of TA. However, this case report demonstrates the utility of MRI/MRA in the evaluation of TA in children and in the course of follow-up, as it provides a noninvasive method for evaluating a child without ionizing radiation or iodinated contrast. Marian Gaballah, Rachelle Goldfisher, and John B. Amodio Copyright © 2017 Marian Gaballah et al. All rights reserved. Cytomegalovirus Associated Duodenal Ulcer and Duodenitis in a Malnourished Pediatric Patient Sun, 08 Oct 2017 00:00:00 +0000 http://www.hindawi.com/journals/cripe/2017/2412930/ Cytomegalovirus (CMV) duodenitis is a rare occurrence, especially in pediatric patients. A thirteen-month-old female presented to the Emergency Department for a febrile seizure. She was incidentally admitted for severe malnutrition with an initial workup remarkable for only a slight elevation in her ALT at 48. The patient was found to have an oral aversion requiring nasogastric tube feeds for adequate caloric intake. She continued to fail to gain weight and underwent an EGD that demonstrated a duodenal ulcer. She was consequently started on sucralfate and omeprazole. Post-EGD lab work demonstrated a pronounced increase in AST and ALT. Pathology from the EGD biopsies later demonstrated viral inclusion bodies consistent with CMV duodenitis. Apart from malnutrition, other causes of immune deficiency were eliminated from the differential diagnosis due to negative HIV PCR and normal immunoglobulins. While on antiviral treatment, her viral load of 1080 IU/mL trended to resolution and her liver enzymes normalized. The patient was ultimately discharged home demonstrating adequate weight gain via gastrostomy tube feeds. This case advocates for pediatricians to include immunodeficiency and infectious etiologies in their differential for malnourished patients in order to lead to earlier diagnosis and management of this treatable condition. Rachel Bernard, Ghanim Aljomah, Emily Klepper, and Elizabeth McDonough Copyright © 2017 Rachel Bernard et al. All rights reserved. Late Onset Streptococcus agalactiae Meningitis following Early Onset Septicemia: A Preventable Disease? Sun, 01 Oct 2017 09:44:28 +0000 http://www.hindawi.com/journals/cripe/2017/8418105/ We report a neonate who presented with early onset Streptococcus agalactiae or group B streptococcus (GBS) septicemia within 24 hours of birth. After discharge at day 14, she went on to develop late onset GBS meningitis at 36 days of age. The infant was treated with intravenous antibiotics on both occasions and eventually discharged home with no apparent sequelae. We address issues associated with GBS infection in infancy including the demographics, risk factors, and the risk of late onset GBS meningitis following an early onset GBS infection. The major source of GBS in early onset GBS disease is maternal birth canal GBS colonization. On the other hand, nosocomial cross-infection is an important source of GBS in late onset disease. Penicillin remains the current treatment of choice for GBS infection. Given the rapid onset and progression within hours of birth and lack of an effective solution for preventing late onset GBS, administration of an effective GBS vaccine in pregnancy could provide a sensible and cost-effective solution in all settings. Kam Lun Hon, King Hang Chan, Pak Long Ko, King Woon So, and Alexander K. C. Leung Copyright © 2017 Kam Lun Hon 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. 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. 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.