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Case Reports in Pediatrics

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https://www.readbyqxmd.com/read/28929005/long-standing-esophageal-perforation-due-to-foreign-body-impaction-in-children-a-therapeutic-challenge-in-a-resource-limited-setting
#1
Ngo Nonga Bernadette, Jean Jacques Ze, Angele O Pondy, Claude M Kalla, Nelly Kamgaing, Daniel Handy Eone
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.
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28900551/appendicitis-caused-by-primary-varicella-zoster-virus-infection-in-a-child-with-digeorge-syndrome
#2
Lotte Møller Smedegaard, Claus Bohn Christiansen, Linea Cecilie Melchior, Anja Poulsen
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28884036/severe-hepatopulmonary-syndrome-in-a-child-with-caroli-syndrome
#3
W De Jesus-Rojas, K McBeth, A Yadav, J M Stark, R A Mosquera, C Jon
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28840051/split-hand-malformation-in-a-4-year-old-child
#4
Girish Gulab Meshram, Kanwaljeet Singh Hura, Neeraj Kaur
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28835862/late-onset-cobalamin-disorder-and-hemolytic-uremic-syndrome-a-rare-cause-of-nephrotic-syndrome
#5
Gianluigi Ardissino, Michela Perrone, Francesca Tel, Sara Testa, Amelia Morrone, Ilaria Possenti, Francesco Tagliaferri, Robertino Dilena, Francesca Menni
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28770119/first-report-on-fetal-cerebral-polyglucosan-bodies-in-mucopolysaccharidosis-type-vii
#6
Hazim Kadhim, Valérie Segers, Catheline Vilain, Julie Désir, Nicky D'Haene
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28770118/new-onset-insomnia-in-a-pediatric-patient-a-case-of-anti-nmda-receptor-encephalitis
#7
Tamar N Goldberg, Michael F Cellucci
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28751997/corrigendum-to-management-challenges-in-a-child-with-chronic-hyponatremia-use-of-v2-receptor-antagonist
#8
Sowmya Krishnan, Swapna Deshpande, Ashwini Mallappa, Divya Gunda, Pascale Lane, Anu Vishwanath, Rene Y McNall-Knapp
[This corrects the article DOI: 10.1155/2017/3757423.].
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28698816/lower-extremity-abscess-formation-in-premature-infants-due-to-routine-infant-vaccinations
#9
Yuhang Sun, Surya N Mundluru, Alice Chu
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28690909/congenital-infantile-fibrosarcoma-causing-intestinal-perforation-in-a-newborn
#10
Margarita Kaiser, Bernadette Liegl-Atzwanger, Eszter Nagy, Daniela Sperl, Georg Singer, Holger Till
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28690908/primary-occipital-ewing-s-sarcoma-with-subsequent-spinal-seeding
#11
Ali Alqahtani, Roaa Amer, Eman Bakhsh
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28638671/prenatal-diagnosis-of-atrioventricular-block-and-qt-interval-prolongation-by-fetal-magnetocardiography-in-a-fetus-with-trisomy-18-and-scn5a-r1193q-variant
#12
Lisheng Lin, Miho Takahashi-Igari, Yoshiaki Kato, Yoshihiro Nozaki, Mana Obata, Hiromi Hamada, Hitoshi Horigome
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.
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28626595/williams-beuren-syndrome-and-congenital-lobar-emphysema-uncommon-association-with-common-pathology
#13
Timothy Andrew Walsh, Krishna Revanna Gopagondanahalli, Atul Malhotra
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28607792/a-constellation-of-rare-findings-in-a-case-of-goldenhar-syndrome
#14
Mitesh Bedi, Rakesh Kumar Jain, Vipin Kumar Barala, Abhimanyu Singh, Hiranmayi Jha
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.
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28593064/physiological-striae-atrophicae-of-adolescence-with-involvement-of-the-axillae-and-proximal-arms
#15
Alexander K C Leung, Benjamin Barankin
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.
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28593063/parotitis-as-an-initial-symptom-of-kawasaki-disease
#16
Koji Yokoyama
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.
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28589054/a-patient-with-msud-acute-management-with-sodium-phenylacetate-sodium-benzoate-and-sodium-phenylbutyrate
#17
Melis Köse, Ebru Canda, Mehtap Kagnici, Sema Kalkan Uçar, Mahmut Çoker
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28584673/sclerema-neonatorum-treated-successfully-with-parenteral-steroids-an-experience-from-a-resource-poor-country
#18
Sandeep Shrestha, Nagendra Chaudhary, Sujit Koirala, Ruchi Gupta
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28567320/pneumoperitoneum-without-intestinal-perforation-in-a-neonate-case-report-and-literature-review
#19
Prabhavathi Gummalla, Gratias Mundakel, Maksim Agaronov, Haesoon Lee
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28553553/use-of-chlorothiazide-in-the-management-of-central-diabetes-insipidus-in-early-infancy
#20
Manish Raisingani, Resmy Palliyil Gopi, Bina Shah
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...
2017: Case Reports in Pediatrics
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