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Case Reports in Pediatrics

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https://www.readbyqxmd.com/read/29279782/a-singleton-infant-with-bilateral-renal-agenesis-and-normal-pulmonary-function
#1
Lovya George, Winston Manimtim, Jotishna Sharma
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29230341/pancreatic-laceration-in-a-pediatric-patient-an-unexpected-diagnosis
#2
Michelle J Hong, Lauren M Porter, Debra D Esernio-Jenssen, Andrew C Miller, Marna Rayl Greenberg
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29214091/keeping-an-open-mind-cognitive-bias-in-the-evaluation-of-an-infant-with-posterior-lateral-rib-fractures
#3
Katie Johnson, Donald Chris Derauf, Raymond Stetson, Paul Galardy, Jason Homme
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29209547/an-acquired-form-of-dandy-walker-malformation-with-enveloping-hemosiderin-deposits
#4
Tadashi Shiohama, Ryo Ando, Katsunori Fujii, Hiroki Mukai, Yuki Naruke, Katsuo Sugita, Eiji Kato, Naoki Shimojo
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29201481/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
#5
Dimitrios Patoulias, Ioannis Patoulias, Christos Kaselas, Maria Kalogirou, Chatzopoulos Kyriakos, Farmakis Konstantinos, Thomas Feidantsis, Papacrivou Eleni
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29181214/atypical-presentation-of-sj%C3%A3-gren-larsson-syndrome
#6
D Papathemeli, A Mataftsi, A Patsatsi, D Sotiriadis, M Samouilidou, S Chondromatidou, A Evangeliou
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.
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29163997/evans-syndrome-complicated-by-intratubular-hemoglobin-cast-nephropathy
#7
Iván González, Rehan Rais, Joseph P Gaut, Louis P Dehner
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29158937/connatal-urinary-ascites-in-a-female-preterm
#8
Barbara Brunner, Elisabeth Ralser, Elisabeth D'Costa, Kathrin Maurer, Ursula Kiechl-Kohlendorfer, Elke Griesmaier
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29138705/physiotherapy-and-rehabilitation-in-a-child-with-joubert-syndrome
#9
Özge İpek, Özge Akyolcu, Banu Bayar
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)...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29138704/caudal-regression-and-encephalocele-rare-manifestations-of-expanded-goldenhar-complex
#10
Gabriella D'Angelo, Lucia Marseglia, Salvatore Aversa, Sara Manti, Caterina Cuppari, Mariaconcetta Cutrupi, Carmelo Salpietro, Eloisa Gitto
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29130013/an-unusual-mechanism-of-closure-of-muscular-ventricular-septal-defects
#11
Soham Dasgupta, Ashraf M Aly
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.
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29130012/10-year-old-female-with-acute-abdominal-pain-with-pancreatic-mass
#12
Charles K Powers, Molly Posa, Dhanashree Rajderkar, Jaclyn Otero
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29119033/the-utility-of-mri-in-the-diagnosis-of-takayasu-arteritis
#13
Marian Gaballah, Rachelle Goldfisher, John B Amodio
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29119032/cytomegalovirus-associated-duodenal-ulcer-and-duodenitis-in-a-malnourished-pediatric-patient
#14
Rachel Bernard, Ghanim Aljomah, Emily Klepper, Elizabeth McDonough
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29098104/late-onset-streptococcus-agalactiae-meningitis-following-early-onset-septicemia-a-preventable-disease
#15
Kam Lun Hon, King Hang Chan, Pak Long Ko, King Woon So, Alexander K C Leung
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29085695/transient-ischemic-attack-and-ischemic-stroke-in-danon-disease-with-formation-of-left-ventricular-apical-thrombus-despite-normal-systolic-function
#16
Takeshi Tsuda, Amanda J Shillingford, Jane Vetter, Vinay Kandula, Badal Jain, Joel Temple
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29085694/corrigendum-to-niemann-pick-disease-type-c-presenting-as-a-developmental-coordination-disorder-with-bullying-by-peers-in-a-school-age-child
#17
Ryo Suzuki, Atsushi Tanaka, Toshiharu Matsui, Tetsuki Gunji, Jun Tohyama, Aya Narita, Eiji Nanba, Kousaku Ohno
[This corrects the article DOI: 10.1155/2015/807591.].
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29071163/resolution-of-periodic-breathing-in-a-child-with-idiopathic-pulmonary-arterial-hypertension
#18
Saadoun Bin-Hasan, Abdullah Khayat, Tilman Humpl, Janette T Reyes, Suhail Al-Saleh
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.
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29062578/immune-thrombocytopenia-in-a-child-with-neuroblastoma
#19
Hasan Tarkan Ikizoglu, Inci Ayan, Fatma Tokat, Tulay Tecimer, Gonca Topuzlu Tekant
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29057134/spiral-fracture-in-young-infant-causing-a-diagnostic-dilemma-nutritional-rickets-versus-child-abuse
#20
Sonia Kaushal, Manish Raisingani, Raphael David, Bina Shah
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...
2017: Case Reports in Pediatrics
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