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Case Reports in Pediatrics

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https://www.readbyqxmd.com/read/29158937/connatal-urinary-ascites-in-a-female-preterm
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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