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Case Reports in Pediatrics

C T Lau, K K Y Wong, P Tam
Galactocele is a rare breast condition in infants. Here, we report a 16-month-old boy who developed progressive left breast enlargement. Ultrasonography and magnetic resonance imaging revealed a 4 cm cystic lesion at left breast. Hormonal assay showed transient hyperprolactinaemia with no known cause identified. Subsequently, galactocele was confirmed on histopathological examination after complete surgical excision. No recurrence was observed on regular follow-up.
2016: Case Reports in Pediatrics
John F Gamble, Dinesh J Kurian, Andrea G Udani, Nathaniel H Greene
We present a case of a 3-month-old female with Wolf-Hirschhorn syndrome (WHS) undergoing general anesthesia for laparoscopic gastrostomy tube placement with a focus on airway management. WHS is a rare 4p microdeletion syndrome resulting in multiple congenital abnormalities, including craniofacial deformities. Microcephaly, micrognathia, and glossoptosis are common features in WHS patients and risk factors for a pediatric airway that is potentially difficult to intubate. We discuss anesthesia strategies for airway preparation and management in a WHS patient requiring general anesthesia with endotracheal intubation...
2016: Case Reports in Pediatrics
Kazumasa Fuwa, Mitsuru Kubota, Masami Kanno, Hiroshi Miyabayashi, Ken Kawabata, Keiichi Kanno, Masaki Shimizu
Diagnosis of mitochondrial respiratory chain disorder (MRCD) is often difficult. Its pathogenesis is still unclear. We diagnosed MRCD by measuring the activity of the mitochondrial respiratory chain enzyme, and the patient also had hemophagocytic lymphohistiocytosis (HLH). A preterm female infant was born at 34 weeks of gestation. On day 6, HLH was revealed by bone marrow aspiration. She died on day 10 due to uncontrollable HLH. An autopsy was performed, and we measured the activity of the mitochondrial respiratory chain enzyme in the liver, muscle, and heart...
2016: Case Reports in Pediatrics
Mohammad Ashkan Moslehi, Mohammad Hadi Imanieh, Ali Adib
Foreign body aspiration (FBA) is a common incidence in young children. Leeches are rarely reported as FBA at any age. This study describes a 15-year-old female who presented with hemoptysis, hematemesis, coughs, melena, and anemia seven months prior to admission. Chest X-ray showed a round hyperdensity in the right lower lobe. A chest computed tomography (CT) demonstrated an area of consolidation and surrounding ground glass opacities in the right lower lobe. Hematological investigations revealed anemia. Finally, bronchoscopy was performed and a 5 cm leech was found within the right B7-8 bronchus and removed by forceps and a Dormia basket...
2016: Case Reports in Pediatrics
Chiara Di Pede, Sabrina Congedi, Sara Rossin, Antuan Divisic, Alesandra De Gregorio, Caterina Agosto, Igor Catalano, Alessandro Mazza, Leonardo Sartori, Stefano Masiero, Franca Benini
We describe a case of a paediatric patient affected by mandibular fibrous dysplasia (FD) with severe and chronic pain who was successfully treated with zoledronic acid (ZOL): a third-generation bisphosphonate. Further research is needed to assess its safety and efficacy as a treatment option for FD in the paediatric population.
2016: Case Reports in Pediatrics
Sarah Abdullah, William Reginold, Courtney Kiss, Karen J Harrison, Jennifer J MacKenzie
Childhood obesity is a growing health concern, associated with significant physical and psychological morbidity. Childhood obesity is known to have a strong genetic component, with mutations in the melanocortin-4 receptor (MC4R) gene being the most common monogenetic cause of obesity. Over 166 different MC4R mutations have been identified in persons with hyperphagia, severe childhood obesity, and increased linear growth. However, it is unclear whether the MC4-R deficiency phenotype is due to haploinsufficiency or dominant-negative effects by the mutant receptor...
2016: Case Reports in Pediatrics
Wedad Abdelrahman, Maureen Y Walsh, Susannah E Hoey, Donal O'Kane
Pyoderma gangrenosum (PG) is a rare inflammatory neutrophilic dermatosis often misdiagnosed. It is uncommon in infants and children accounting for 4% of cases. A one-year-old male in paediatric ICU ventilated for bronchopneumonia was referred with ulcerated areas on his neck and axilla corresponding to sites of recent removal of central and arterial lines. Examination revealed areas of deep ulceration with violaceous undermined borders in keeping with PG. This was supported by a skin biopsy showing a neutrophilic infiltrate in the deeper dermis...
2016: Case Reports in Pediatrics
Rekha Krishnasarma, Liza Green Golan Mackintosh, Francine Bynum
Many children who are admitted to pediatric hospitals with the chief complaint of apparent life-threatening event (ALTE) are, in fact, well appearing by the time the inpatient medical team evaluates the patient. This presents a diagnostic and therapeutic challenge. We describe a case of a six-month-old full-term female presenting with an ALTE and found to have a double aortic arch, a congenital anomaly that usually presents with a more progressive onset of symptoms such as chronic cough, positional stridor, and feeding difficulties...
2016: Case Reports in Pediatrics
Helen Bornaun, Elif Yartaşı Tik, Gonca Keskindemirci, Ali Ekiz, Kazım Öztarhan, Reyhan Dedeoğlu, Merih Çetinkaya
Right atrial appendage aneurysm is a very rare condition which can be asymptomatic or can cause arrhythmia or life-threatening thromboembolism. We report a case of newborn with right atrial appendage aneurysm who was diagnosed with fetal echocardiography. Anticoagulant therapy was applied to prevent thromboembolism and he is still going on follow-up without any complaint.
2016: Case Reports in Pediatrics
Elvira Ferrés-Amat, Tomasa Pastor-Vera, Paula Rodríguez-Alessi, Eduard Ferrés-Amat, Javier Mareque-Bueno, Eduard Ferrés-Padró
The problems of suction in newborns give rise to multiple consequences for both the mother and the newborn. The objective of this paper is to present a case of ankyloglossia ("tongue-tie") and the suction problems that were treated by a multidisciplinary team. The subject is a 17-day-old male patient, with ankyloglossia and suction problems during breastfeeding (pain in the breastfeeding mother, poor weight gain, and long breastfeeds). The patient followed the circuit established in our centre between the services of Oral and Maxillofacial Surgery and Breastfeeding and Speech Therapy and Orofacial Rehabilitation (CELERE)...
2016: Case Reports in Pediatrics
Gioconda Manassero-Morales, Denisse Alvarez-Manassero, Alfredo Merino-Luna
Introduction. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is very rare; it is even more rare to find the presence of a double monoclonal chromosomal abnormality. Objective. To report a unique case of double monoclonal chromosomal abnormality with trisomy of chromosome 21 and an X ring chromosome in all cells studied; no previous report has been found. Case Report. Female, 28 months old, with pathological short stature from birth, with the following dysmorphic features: tilted upward palpebral fissures, short neck, brachycephaly, and low-set ears...
2016: Case Reports in Pediatrics
Ravi Bhatia, Dinesh Rajwaniya, Priti Agrawal
Although malaria is endemic in India, congenital malaria is not very common. Congenital malaria is a very rare condition in both endemic and nonendemic areas. We report a case of congenital malaria in a six-day-old neonate with fever and splenomegaly. The diagnosis was picked up accidentally on a peripheral smear examination. Congenital malaria should be kept as differential diagnosis of neonatal sepsis. Timely detection of this condition could lead to early diagnosis and treatment, thereby preventing neonatal mortality...
2016: Case Reports in Pediatrics
Deepak Sharma, Ankur Patel, Priyanka Soni, Pradeep Sharma, Basudev Gupta
Empedobacter brevis is gram-negative bacilli that belongs to Flavobacteriaceae family. It was previously known with name of Flavobacterium breve. The reservoir of these bacteria is soil, plants, water, food, hospital water sources, including incubators, sinks, faucets, tap water, hemodialysis systems, saline solutions, and other pharmaceutical solutions. We report a case of term female newborn, admitted with complaint of respiratory distress developing soon after birth and developed clinical features of sepsis at age of 92 hours of postnatal life...
2016: Case Reports in Pediatrics
Michael A Granieri, Joseph J Fantony, Jonathan C Routh
We report the first documented case of high flow priapism after circumcision with dorsal penile nerve block. A 7-year-old male who had undergone circumcision three years before presented to our institution with a 3-year history of persistent nonpainful erections. Workup revealed a high flow priapism and, after discussion of the management options, the patient's family elected continued observation.
2016: Case Reports in Pediatrics
Rogatus Kabyemera, Neema Chami, Neema Kayange, Respicius Bakalemwa, Antke Zuechner, Tumaini Mhada, Gustave Buname, Adolfine Hokororo, Johannes Kataraihya
Upper airway obstruction (UAO) due to adenotonsillar hypertrophy represents one of the rare causes of pulmonary hypertension in children. We report a case of adenotonsillar hypertrophy, managed at pediatric and otorhinolaryngology departments in Bugando Medical Centre (BMC), northwestern Tanzania, with complete remission of symptoms of pulmonary hypertension following adenotonsillectomy. A 17-month-old boy presented with difficulty breathing, dry cough, and noisy breathing since 1 year. He had facial and lower limb oedema with a pan systolic murmur at the tricuspid area, fine crepitations, and tender hepatomegaly...
2016: Case Reports in Pediatrics
C Gils, M-C Eckhardt, P E Nielsen, M Nybo
Background. Congenital chloride diarrhea (CCD) is an autosomal recessive disorder caused by mutations in the genes encoding the intestinal Cl(-)/HCO3 (-) exchanger and is clinically characterized by watery, profound diarrhea, electrolyte disturbances, and metabolic alkalosis. The CCD diagnosis is based on the clinical symptoms and measurement of high chloride concentration in feces (>90 mmol/L) and is confirmed by DNA testing. Untreated CCD is lethal, while long-term clinical outcome improves when treated correctly...
2016: Case Reports in Pediatrics
Bianca Karber, Lenore Omesi, Sunny Chang, Andrew Handel, Monica Hegedus, Echezona Maduekwe
Congenital ascites is rare, but when it occurs, urinary ascites secondary to posterior urethral valve obstruction is the most common, and tumors are the least. Among the tumors in the pediatric population, the central nervous system tumors are common, but spinal cord tumors are rare. We describe a very rare case of congenital malignant spinal cord glioma presenting as isolated congenital ascites secondary to neurogenic bladder. A female infant was diagnosed sonographically with isolated congenital ascites at 40 weeks' gestational age, with uneventful development prior to 40 weeks' gestational age...
2016: Case Reports in Pediatrics
Murat Gunay, Taner Yavuz, Gokhan Celik, Gunay Uludag
We report an infant with tetralogy of fallot (TOF) who was born at 35 weeks of gestation and of 1700 g birth weight and presented with persistent retinopathy of prematurity (ROP) at 6 months of age. Follow-up ophthalmic examinations were done at 2, 3, and 4 weeks of age. A demarcation line in Zone II was noticed on the first ocular examination done at 4 weeks of postnatal age. At 6 months of postnatal age, the infant still had an avascular peripheral retina with the demarcation line in Zone II. Even though this index subject did not have any typical risk factors for ROP, TOF seems to be the probable reason for developing as well as persistence of avascular retina...
2016: Case Reports in Pediatrics
Elisa Zambaiti, Cinzia Chiaramonte, Sergio Salerno, Giuseppe Li Voti, Fortunato Siracusa
[This corrects the article DOI: 10.1155/2016/6329793.].
2016: Case Reports in Pediatrics
Marco Pensabene, Vincenza Girgenti, Marcello Cimador, Giuseppe Li Voti, Vito Rodolico, Fortunato Siracusa
Mature cystic teratoma is the most frequent benign ovarian neoplastic lesion in adolescents and is generally composed of fully differentiated tissue arising from multipotential three germinal layers. It accounts for approximately 50% of benign ovarian tumors in childhood. Rarely, a bilateral, synchronous, or metachronous presentation can be observed, supporting a conservative approach as the first surgical approach. We report a case of an ovarian mature cystic incarcerated in indirect inguinal hernia in a 15-year-old girl undergoing ovary-sparing surgery...
2016: Case Reports in Pediatrics
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