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Case Reports in Pediatrics

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https://www.readbyqxmd.com/read/28428902/nonfamilial-juvenile-polyposis-syndrome-with-exon-5-novel-mutation-in-smad-4-gene
#1
Amna Ahmed, Badr Alsaleem
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28409047/a-giant-cavernous-hemangioma-of-the-left-atrioventricular-groove
#2
Chengming Fan, Changming Tan, Demiao Kong, Jinfu Yang, Shuwen Yuan, Sijie Wu
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28392954/persistent-oxygen-requirement-beyond-prematurity-a-case-of-acquired-pulmonary-vein-stenosis
#3
Tyler A Fick, Bernadette Richards, Carl H Backes, Molly K Ball
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.
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28386503/coarctation-of-the-aorta-as-a-complication-of-surgical-ligation-of-patent-ductus-arteriosus-in-a-premature-infant
#4
Amna Qasim, Soham Dasgupta, Sunil K Jain, Amyn K Jiwani, Ashraf M Aly
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.
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28386502/transumbilical-surgery-for-duodenal-stenosis-in-a-child-with-situs-inversus-the-first-report
#5
Isamu Saeki, Yu Ueno, Wataru Mukai, Reisuke Imaji, Takashi Akiyama
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28386501/seronegative-coeliac-disease-in-children-a-case-report-and-review-of-the-literature
#6
Vinod Kolimarala, Ekta Vasita, Hany Banoub, Sonny K F Chong
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.
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28373920/pulmonary-arteriovenous-malformation-causing-systemic-hypoxemia-in-early-infancy
#7
V Aggarwal, D M Khan, J F Rhodes
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28357148/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
#8
Patrick DeMoss, Mohamed Asfour, Kelly Hersey
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28348910/a-wandering-abdominal-mass-in-a-neonate-an-enteric-duplication-cyst-mimicking-an-ovarian-cyst
#9
Shigeo Iijima
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28337356/cervical-stimulation-in-the-treatment-of-children-with-lymphedema-of-all-four-extremities-a-case-report-and-literature-review
#10
Livia Maria Pereira de Godoy, Paula Pereira de Godoy Capeletto, José Maria Pereira de Godoy, Maria de Fátima Guerreiro Godoy
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28337355/osteonecrosis-of-the-femoral-head-in-an-adolescent-on-long-term-inhalational-corticosteroids
#11
Anthony C Egger, R Tracy Ballock
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28337354/facial-asymmetry-in-a-crying-newborn-a-comparison-of-two-cases-and-review-of-literature
#12
Shreyas Arya, Sunil K Jain, Carol J Richardson
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28337353/gastric-duplication-a-rare-cause-of-recurrent-vomiting
#13
Brahmananda Koduri, Katie McHale, Christina Yost, Michael H Goodman, Dennis Hoelzer
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28331645/propylene-glycol-toxicity-in-adolescent-with-refractory-myoclonic-status-epilepticus
#14
Kara A Bjur, Bryan C Cannon, Anthony L Fine, Matthew J Ritter, Kerry E Schueler, Michael E Nemergut
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28326217/a-rare-adrenal-mass-in-a-3-month-old-a-case-report-and-literature-review
#15
Ashish Garg, Elza Pollak-Christian, Navneetha Unnikrishnan
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28316855/central-nervous-system-involvement-in-henoch-schonlein-purpura-in-children-and-adolescents
#16
Iliyana H Pacheva, Ivan S Ivanov, Krastina Stefanova, Elena Chepisheva, Lyubov Chochkova, Dafina Grozeva, Angelina Stoyanova, Stojan Milenkov, Penka Stefanova, Anna Petrova
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28316854/a-marked-response-to-immunosuppressive-intervention-for-abruptly-occurring-cardiac-complications-in-a-case-of-juvenile-systemic-sclerosis-overlapped-with-dermatomyositis
#17
Tsunehisa Nagamori, Yoichiro Yoshida, Hironori Takahashi, Hideharu Oka, Aya Kajihama, Koichi Nakau, Masaya Sugimoto, Masako Minami-Hori, Hiroshi Azuma
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28299224/a-rare-cause-of-childhood-cerebellitis-influenza-infection-a-case-report-and-systematic-review-of-literature
#18
Şule Gökçe, Zafer Kurugol, Aslı Aslan
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.
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28299223/hematemesis-as-initial-presentation-in-a-10-week-old-infant-with-eosinophilic-gastroenteritis
#19
Varun Shetty, Kayla E Daniel, Anil Kesavan
Eosinophilic gastroenteritis is a rare condition characterized by eosinophilic inflammation in the gastrointestinal tract resulting in a variety of gastrointestinal symptoms. There is currently a dearth of information on this topic in the pediatric literature, as very few cases have been reported. In this report, we present a case of eosinophilic gastroenteritis in a 10-week-old patient with initial presenting symptom of hematemesis. To our knowledge, this is the youngest case reported in the literature and is unique in its initial presentation...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28299222/complete-obstruction-of-endotracheal-tube-in-an-infant-with-a-retropharyngeal-and-anterior-mediastinal-abscess
#20
Dennis B Thapa, Nathaniel H Greene, Andrea G Udani
Intraoperative ventilatory failure is not an uncommon complication; however, acute endotracheal obstruction by a foreign body or blood clot can be difficult to quickly discriminate from other causes. Once the diagnosis is made, quick action is needed to restore ventilation. The ultimate solution is to exchange the endotracheal tube; however, there can be other ways of resolving this in situations where reintubation would be difficult or unsafe. This case report discusses such an event in an infant with multiple airway challenges including a retropharyngeal and anterior mediastinal abscess...
2017: Case Reports in Pediatrics
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