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Case Reports in Pediatrics

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https://www.readbyqxmd.com/read/28168077/a-case-of-neonatal-marfan-syndrome-a-management-conundrum-and-the-role-of-a-multidisciplinary-team
#1
Elliott J Carande, Samuel J Bilton, Satish Adwani
Neonatal Marfan syndrome (nMFS) is a rare condition with a poor prognosis. It is genotypically and phenotypically distinct from the typical Marfan syndrome and carries a poorer prognosis. This case report describes the progression of a 14-month-old girl diagnosed with nMFS at 5 months of age. Her diagnosis followed the identification of a fibrillin-1 mutation (FBN1 gene, exon 26, chromosome 15), which is a common locus of nMFS. This patient developed severe cardiac complications resulting in congestive cardiac failure in early life and required major cardiac surgery...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28163948/rectal-bleeding-and-abdominal-pain-following-vaccination-in-a-4-month-old-infant
#2
Jaclyn Otero, Molly R Posa, Maria N Kelly
Intussusception is one of the most frequent causes of intestinal obstruction in infants. Rotavirus vaccination has been associated with intussusception in the medical literature. We report a case of a 4-month-old female with intussusception requiring hemicolectomy one week following rotavirus vaccination. We review the pathophysiology, presentation, and management of intussusception with a distinct focus on the history of rotavirus vaccination and risks of intussusception associated with timing of rotavirus vaccine administration...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28149654/management-challenges-in-a-child-with-chronic-hyponatremia-use-of-v2-receptor-antagonist
#3
Sowmya Krishnan, Swapna Deshpande, Ashwini Mallappa, Gunda Divya, Pascale Lane, Anu Vishwanath, Rene Y McNall-Knapp
Chronic hyponatremia is very rare in children and is often seen in the setting of congestive heart failure or liver failure in adults. Here, we report an 8-year-old child with hypothalamic glioma who presented with severe hyponatremia. Initial management consisted of fluid restriction. This was very difficult for the child to follow and the child developed bizarre drinking habits requiring intervention from child psychiatry. So therapy was initiated with low dose V2 receptor antagonist under close inpatient monitoring...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28116202/mixed-botryoid-and-spindle-cell-bladder-rhabdomyosarcoma-an-outstanding-pediatric-case
#4
Tommaso Alterio, Roberto Chimenz, Salvatore Arena, Giovanni Conti, Sabrina Cardile, Carmelo Romeo, Carmelo Salpietro, Carmelo Fede
We report a case of a 3-year-old North African child, initially assessed for nonspecific urinary symptoms such as haematuria and burning urination. The ultrasound evaluation showed a vegetating mass occupying the lumen with weak vascular signs at the Colour-Doppler evaluation. An explorative cystoscopy was performed and it revealed a nonbleeding lesion, white in colour, pedunculated, projecting into the lumen, and associated with a brown satellite formation. Histological examination showed a mixed Botryoid and Spindle Cell Rhabdomyosarcoma...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28116201/antituberculosis-drug-induced-liver-injury-with-autoimmune-features-facing-diagnostic-and-treatment-challenges
#5
Maria Adriana Rangel, Isabel Pinto Pais, Raquel Duarte, Isabel Carvalho
The authors present a case report of antituberculosis drug-induced liver injury that offered diagnostic challenges (namely, the possibility of drug-induced autoimmune hepatitis) and treatment difficulties.
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28116200/neonatal-sacrococcygeal-neuroblastoma-mimicking-a-teratoma
#6
Leticia Gely, Humberto Lugo-Vicente, María Correa-Rivas, Kary Bouet, Zayhara Reyes Bou, Mohammed Suleiman, Inés García
We reported the first case of a congenital intrapelvic presacral neuroblastoma in Puerto Rico managed in the early neonatal period. The preoperative diagnosis was a sacrococcygeal teratoma Altman stage IV classification. This case confirms the importance of a comprehensive physical examination and observation of low-risk newborn infants with a history of adequate prenatal care and an unremarkable fetal ultrasonogram during pregnancy.
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28078159/schwannoma-localized-retroperitoneally-in-a-14-year-old-boy
#7
Hasan Cayirli, Halil Ibrahim Tanriverdi, Ali Aykan Ozguven, Cuneyt Gunsar, Betul Ersoy, Ali Riza Kandiloglu
Schwannomas usually occur in adults being between the second and fifth decades, and such neoplasms are extremely rare in a pediatric population. In addition, they are not normally found in the retroperitoneal region. Here, we present a pediatric case of a retroperitoneal schwannoma in an adrenal location where the tumor was not able to be preoperatively differentiated from other benign or malign adrenal gland tumors. In our opinion, this tumor can be included in the differential diagnosis of a nonfunctioning retroperitoneal adrenal mass in children...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28070436/the-pearls-of-multidisciplinary-team-conquering-the-uncommon-rosette-rash
#8
Nitin Verma, Charles Pickles, Muhammad Amjad Khan
Linear IgA disease of childhood (LAD) also known as chronic bullous disease of childhood is an autoimmune disease with IgA deposition at the basement membrane zone leading to a vesiculobullous rash. It has a clinical appearance which frequently is described as resembling "strings of pearls" or rosette-like. Diagnosis is usually clinical but sometimes biopsy is required. Dapsone is widely considered to be the first line therapy in the treatment of LAD. A 5-year-old girl presented with 4-day history of a widespread painful rash and pyrexia...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28058123/enhancing-mass-lesion-of-the-sphenoid-atypical-presentation-of-ongoing-pneumatization
#9
Deepak Vallabhaneni, Anthony Mohamed, Zain Badar, Rajiv Mangla
Sinus pneumatization is a complex variable process that begins in early life and continues for many years. We present a case of a 6-year-old boy with progressive headaches and neurologic symptoms suggestive of intracranial pathology. The presence of enhancing tissue within the sphenoid sinus created a diagnostic dilemma which leads to a transsphenoidal biopsy. Knowledge of imaging characteristics associated with incomplete pneumatization can help differentiate it from more ominous skull base pathology and prevent unnecessary testing...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28050301/a-rare-case-of-clavicle-osteomyelitis-in-a-child-and-literature-review
#10
Elisavet-Anna Chrysochoou, Charalampos Antachopoulos, Konstantinos Badekas, Emmanuel Roilides
Acute clavicle osteomyelitis in children is rare representing <3% of osteomyelitis cases. We treated a 12-year-old boy who presented with acute pain in the right clavicle and high fever for 4 days. MRI showed abnormal signal in the right clavicle with periosteal reaction. Staphylococcus aureus isolated from blood was susceptible to methicillin, clindamycin, and macrolides. Clindamycin was given intravenously for 3 wks and orally for another 3 wks with no recurrence. We reviewed clavicle osteomyelitis cases in children searching PubMed English literature...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28050300/infantile-cortical-hyperostosis-report-of-a-case-with-observations-on-clinical-manifestations-radiology-and-pathology-with-a-late-follow-up-of-eight-years
#11
Pedro Carlos M Sarmento Pinheiro, Ierecê Lins Aymore, Armando Rocha Amoedo, Paulo Miguel Hemais
Purpose. The purpose of our study was to investigate clinical manifestations, roentgen images, histopathological studies, and evolution of the disease in patient displaying infantile cortical hyperostosis. Methods. Roentgenograms were made to evaluate a neonatal patient presenting multiple soft-tissue swellings. The initial radiographs insinuated that the disease had been present for some time in utero. Bone puncture biopsy of the tibia for histopathological observation and diagnosis conclusions was performed...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28044119/a-14-year-old-boy-with-unusual-presentation-of-respiratory-distress
#12
Adam W Powell, Samuel Hanke, James S Tweddell, Nicolas Madsen
There are multiple cardiac etiologies for wheezing and respiratory distress which require a high degree of suspicion for the pediatrician to diagnose. We present a case of a patient with a history of long-standing mild persistent asthma with minimal improvement on controller and bronchodilator therapies who presented to the emergency room with acute respiratory distress. When he demonstrated a lack of improvement with traditional respiratory therapies, additional etiologies of respiratory distress were considered...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28025633/childhood-hypopigmented-mycosis-fungoides-a-rare-diagnosis
#13
Cláudia Patraquim, Maria Miguel Gomes, Carla Garcez, Filipa Leite, Tereza Oliva, António Santos, Armando Pinto
Primary cutaneous lymphomas (PCL) are rare in pediatrics. Mycosis fungoides (MF) is the most frequent PCL diagnosed in childhood. There are various clinical variants of MF, including the hypopigmented MF (HMF). We present a 5-year-old boy with an 18-month history of progressive, generalized, nonpruritic hypopigmented lesions with central lacy erythema. He had no improvement with emollients. Skin biopsy showed typical features of HMF. He was treated with topical corticosteroids and tacrolimus and narrow-band ultraviolet B (NBUVB) phototherapy, with good response...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28018695/from-benign-to-malign-in-a-case-of-cervical-adenopathy-in-a-17-year-old-adolescent-diagnostic-traps
#14
Simona Dumitra, Maria Trailescu, Amelia Burlea, Claudia Covaci, Ozana Balan, Adrian Pavel, Carmen Crișan
Distinguishing between benign and malign adenopathies remains a challenge and could represent a source of error in a diagnosis. We report a case of right laterocervical adenopathy in a 17-year-old teenager admitted to hospital with an episode of fever associated with dysphagia, congested pharynx, and pultaceous deposits. Initially the adenopathy was considered to be secondary to a coinfection with Streptococcus B-hemolytic and Epstein-Barr virus, as suggested by the positive bacteriological and serological tests...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28018694/anterior-hypopituitarism-and-treatment-response-in-hunter-syndrome-a-comparison-of-two-patients
#15
Munier A Nour, Paola Luca, David Stephure, Xing-Chang Wei, Aneal Khan
Hypopituitarism is a clinically important diagnosis and has not previously been reported in Hunter syndrome. We contrast two cases with anatomic pituitary anomalies: one with anterior panhypopituitarism and the other with intact pituitary function. Patient 1, a 10-year-old boy with Hunter syndrome, was evaluated for poor growth and an ectopic posterior pituitary gland. Endocrine testing revealed growth hormone (GH) deficiency, secondary adrenal insufficiency, and tertiary hypothyroidism. An improvement in growth velocity with hormone replacement (GH, thyroxine, and corticosteroid) was seen; however, final adult height remained compromised...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28018693/stickler-syndrome-type-1-with-short-stature-and-atypical-ocular-manifestations
#16
Manisha Goyal, Seema Kapoor, Shiro Ikegawa, Gen Nishimura
Stickler syndrome or hereditary progressive arthroophthalmopathy is a heterogeneous group of collagen tissue disorders, characterized by orofacial features, ophthalmological features (high myopia, vitreoretinal degeneration, retinal detachment, and presenile cataracts), hearing impairment, mild spondyloepiphyseal dysplasia, and/or early onset arthritis. Stickler syndrome type I (ocular form) is caused by mutation in the COL2A1 gene. Ptosis and uveitis are relatively rare ophthalmological manifestations of this syndrome...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28003926/torsion-of-a-communicating-hydrocele-presented-as-acute-scrotum-a-case-report-and-literature-review
#17
Ivonete Siviero, Ivens Baker Méio, Saulo Marcos Rebello Ferrante, Danielle Nunes Forny, André Lima da Cunha
Torsion of a communicating hydrocele is extremely rare, and the cause is unclear. We report the case of a 3-year-old boy referred to us with acute scrotum. Operative findings revealed torsion of a communicating hydrocele with a 360-degree rotation of the distal end. We performed surgical excision of the necrotic cystic mass and high ligation of the peritoneal communication. A high index of suspicion is required for the correct diagnosis and treatment of this condition, which should be included among the causes of acute scrotum in childhood...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28003925/fetal-valproate-syndrome-with-limb-defects-an-indian-case-report
#18
Manisha Goyal, Ashok Gupta, Manish Sharma, Priyanshu Mathur, Naresh Bansal
Epilepsy is a common disorder and exposure to antiepileptic drugs during pregnancy increases the risk of teratogenicity. Older AEDs such as valproate and phenobarbital are associated with a higher risk of major malformations in the fetus than newer AEDs like lamotrigine and levetiracetam. Exposure to valproic acid during first trimester can result in fetal valproate syndrome (FVS), comprising typical facial features, developmental delay, and a variety of malformations such as neural tube defects, cardiac and genitourinary malformations, and limb defects...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27994905/dilated-cardiomyopathy-induced-by-chronic-starvation-and-selenium-deficiency
#19
Soham Dasgupta, Ashraf M Aly
Protein energy malnutrition (PEM) has been rarely documented as a cause of cardiovascular abnormalities, including dilated cardiomyopathy. Selenium is responsible for antioxidant defense mechanisms in cardiomyocytes, and its deficiency in the setting of PEM and disease related malnutrition (DRM) may lead to exacerbation of the dilated cardiomyopathy. We report a rare case of a fourteen-year-old boy who presented with symptoms of congestive heart failure due to DRM and PEM (secondary to chronic starvation) along with severe selenium deficiency...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27994904/bronchial-foreign-body-alerting-of-a-bronchial-tumor-the-need-of-a-follow-up-radiography
#20
Nahida El-Rifai, Samar Shahine, Hassan Sidani, Ali Sabeh Aion, Antoine Deschildre, Marie-Christine Copin
Lung tumors are extremely rare in the pediatric population, comprising only 0.2% of all malignancies in children. Among them, mucoepidermoid carcinoma (MEC) is even rarer with a reported frequency of 0.1% to 0.2%. MEC is defined by the World Health Organization as a tumor characterized by a combination of mucus-secreting, squamous, and intermediate cell types. We describe the case of a 4-year-old girl who presented with a history of intermittent fever and nonproductive cough of 1-month duration after foreign body aspiration...
2016: Case Reports in Pediatrics
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