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Case Reports in Pediatrics

Narasimhan Malathi, G V V Giri, Deepak A Pandyan, Ramalingam Suganya, Harikrishnan Thamizhchelvan
Ameloblastoma is a slow-growing, benign odontogenic tumor derived from odontogenic epithelial components with a mature fibrous stroma. It is the second most common odontogenic neoplasm following odontome. Acanthomatous ameloblastoma histologically presents with squamous epithelial metaplastic transformation of odontogenic tissue. The present case report of a 12-year-old male exclusively elaborates the issues concerned with the aggressive nature of acanthomatous ameloblastoma (AA) which is a distinctive variant of ameloblastoma...
2018: Case Reports in Pediatrics
Diamond Ling, Jonathan G Dayan
Trisomy 21, or Down syndrome (DS), is a genetic disorder affecting approximately 1 in 500-750 live births. The prevalence of DS has increased over the past two decades, correlating with a rise in the proportion of pregnancies complicated by advanced maternal age. There is also a correlation between advanced maternal age and dizygotic twinning rates. There is an increased risk of at least one twin being affected in dizygotic pregnancies compared to singletons. However, despite this greater relative risk, reports of concordance of DS in both dizygotic twins are very rare...
2018: Case Reports in Pediatrics
Georg Singer, Karl Kashofer, Christoph Castellani, Holger Till
Approximately 40% of children with Hirschsprung's disease (HD) suffer from Hirschsprung's associated enterocolitis (HAEC) despite correct surgery. Disturbances of the intestinal microbiome may play a role. Treatment with probiotics based on individual analyses of the fecal microbiome has not been published for HD patients with recurrent HAEC yet. A boy with trisomy 21 received transanal pull-through at the age of 6 months for rectosigmoid HD. With four years, he suffered from recurrent episodes of HAEC. The fecal microbiome was measured during three healthy and three HAEC episodes by next-generation sequencing...
2018: Case Reports in Pediatrics
Ugochi O Ogu, Ghada Abusin, Rolla F Abu-Arja, Janice M Staber
Blue rubber bleb nevus syndrome (BRBNS) is a rare disease with vascular malformations in several systems of the body, most commonly the skin and gastrointestinal tract. Bleeding from the gastrointestinal (GI) tract is a major complication, which may lead to chronic iron deficiency anemia and the need for frequent blood transfusions due to ongoing gastrointestinal blood loss. In this case report, we describe a now 19-year-old female with BRBNS who required six blood transfusions per year and after starting sirolimus is symptom- and transfusion-free...
2018: Case Reports in Pediatrics
Montserrat Diaz-Abad, Amal Isaiah, Valerie E Rogers, Kevin D Pereira, Anayansi Lasso-Pirot
Obstructive sleep apnea (OSA) is a common disorder in children but can occasionally present with life-threatening hypoxemia. Obesity is a significant risk factor for poor outcomes of OSA treatment. Continuous positive airway pressure (CPAP) is indicated in children who are not candidates for or have an unsatisfactory response to adenotonsillectomy. Children acutely at risk for significant morbidity with other therapies are candidates for a tracheostomy. An eight-year-old patient with morbid obesity and severe OSA refractory to CPAP therapy was treated successfully with a novel noninvasive ventilation (NIV) mode with volume-assured pressure support (VAPS) and avoided tracheostomy...
2018: Case Reports in Pediatrics
Tracey Dyer, Paul Dancey, John Martin, Suryakant Shah
Kawasaki disease (KD) is an acute systemic vasculitis of childhood. The diagnosis can be made in a patient who presents with a prolonged high fever and meeting at least four of five criteria including polymorphous rash, mucosal changes, extremity changes (including swelling and/or palmar and plantar erythema), bilateral nonsuppurative conjunctivitis, and unilateral cervical lymphadenopathy. Atypical KD refers to patients who have not met the full criteria and in whom atypical features may be present. We discuss a case of a 6-year-old male who presented to the Emergency Department with torticollis...
2018: Case Reports in Pediatrics
Sunday O Ajike, Rabiu Mohammed, Adegbenga O Johnson, Kato Chaha, Modupe O Samaila
Lateral proboscis is a rare congenital anomaly. Lateral proboscis is a rare craniofacial malformation characterized by a rudimentary tubular, nose-like structure occurring in association with a wide spectrum of other anomalies. We presented a seven-month-old girl's lateral proboscis, cleft lip, and palate. Proboscis was excised by an elliptical incision, and the cleft was repaired at the same surgery.
2018: Case Reports in Pediatrics
Preston Gardner, Arlene Rozzelle
Congenital granular cell tumors are infrequently occurring masses occurring on a neonate's gingiva/alveolus. These lesions are benign with no noted malignant transformation, and treatment of excision is based on its effect on the neonate's respiratory ability and/or nutritional intake. The purpose of this review is to discuss a case of a congenital granular cell tumor and its treatment and review of the literature including demographics, histopathology, and operative treatment.
2018: Case Reports in Pediatrics
Rie Okumura, Sawako Yamazaki, Tsukasa Ohashi, Shinichi Magara, Jun Tohyama, Hiroshi Sakuma, Masaharu Hayashi, Akihiko Saitoh
Immune-mediated central nervous system manifestations of group A β -hemolytic Streptococcus (GABHS) infection include Sydenham's chorea, pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection (PANDAS)-which includes tic and obsessive compulsive disorders-and a variety of neurobehavioral disorders. We report a case of Streptococcus dysgalactiae subspecies equisimilis (group G Streptococcus ) (GGS) infection associated with involuntary movements, complex tics, and emotional lability in an 11-year-old Japanese girl...
2018: Case Reports in Pediatrics
Fumihiro Ochi, Hisamichi Tauchi, Toshihiro Jogamoto, Hiromitsu Miura, Tomozo Moritani, Kozo Nagai, Eiichi Ishii
Streptococcus pyogenes (also referred to as group A streptococci, GAS) causes severe invasive diseases such as bacteremia, necrotizing fasciitis, pneumonia, osteomyelitis, septic arthritis, and toxic shock syndrome in children. However, there are only a few reports on pleural empyema caused by GAS in children. Here, we report the case of a 4-year-old boy who presented with pleural empyema due to GAS after influenza A virus infection. With intravenous antibiotic administration and continuous chest-tube drainage, followed by video-assisted thoracoscopic surgery, his condition improved...
2018: Case Reports in Pediatrics
Audrey Petit, Amandine Rubio, Chantal Durand, Christian Piolat, Cécile Perret, Anne Pagnier, Dominique Plantaz, Hervé Sartelet
Spinal cord compression in Wilms' tumor (WT) is an extremely rare event that can have a very poor prognosis if not taken care of rapidly. Most cases reported in the literature involve widely metastatic patient with bone or paraspinal metastases or occasionally intradural metastasis. Here, we present the case of a 3-year-old girl of WT confirmed by biopsy, with spinal cord compression due to the direct contiguous spread of a tumor through 2 vertebral foramina. Abdominal ultrasonography and magnetic resonance imaging performed for an abdominal mass revealed a large heterogeneous tumor near the upper pole of the left kidney...
2018: Case Reports in Pediatrics
Koji Yokoyama
Traditionally, it has been recommended that first-responders should place chopsticks or their hand in a child's mouth to prevent the child from biting their tongue during convulsion. The practice persists locally in parts of Japan and can cause adverse events. We report a traumatic epiglottitis following the thrusting of a guardians' hand into a 13-month-old girl's mouth to prevent her from biting her tongue.
2018: Case Reports in Pediatrics
Asmaa Adel Milyani, Abdulmoein Eid Al-Agha
The systemic bioavailability of steroids has long been implicated as a cause for osteoporosis (OP); however, much less is known about the effect of topical steroids on bone homeostasis. This is a case of an 11-year-old male who is a known case of generalised pustular psoriasis for 8-year duration with frequent exacerbations controlled with topical betamethasone dipropionate. He presented with generalised progressive bone pain and positive history of bone fracture. The diagnosis of OP was established on the results of DEXA, which were -2...
2018: Case Reports in Pediatrics
Gloria Pelizzo, Aurora Puglisi, Maria Lapi, Maria Piccione, Federico Matina, Martina Busè, Giovanni Battista Mura, Giuseppe Re, Valeria Calcaterra
The causes of embryological developmental anomalies leading to laryngotracheoesophageal clefts (LTECs) are not known, but are proposed to be multifactorial, including genetic and environmental factors. Haploinsufficiency of the RERE gene might contribute to different phenotypes seen in individuals with 1p36 deletions. We describe a neonate of an obese mother, diagnosed with type IV LTEC and type III esophageal atresia (EA), in which a 1p36 deletion including the RERE gene was detected. On the second day of life, a right thoracotomy and extrapleural esophagus atresia repair were attempted...
2018: Case Reports in Pediatrics
Yajun Zhang, Yuhong Tao
Pancreatic tuberculosis (TB) is an uncommon form of extrapulmonary TB and represents a diagnostic challenge for physicians. Pancreatic TB presents with nonspecific signs and symptoms and may mimic malignancy. However, pancreatic TB rarely occurs in children. Here, we present a case of a 5-year-old girl with pancreatic TB and markedly elevated serum cancer antigen- (CA-) 125 levels, thus raising the suspicion of malignancy, but positivity for Mycobacterium tuberculosis DNA was noted. The patient recovered after being administered standard antitubercular therapy for one year...
2018: Case Reports in Pediatrics
Nadia K Rafiq, Helen Lachmann, Frodi Joensen, Troels Herlin, Paul A Brogan
Mevalonate kinase deficiency (MKD) is a severe autoinflammatory disease caused by recessive mutations in MVK resulting in reduced function of the enzyme mevalonate kinase, involved in the cholesterol/isoprenoid pathway. MKD presents with periodic episodes of severe systemic inflammation, poor quality of life, and life-threatening sequelae if inadequately treated. We report the case of a 12-year-old girl with MKD and severe autoinflammation that was resistant to IL-1 and TNF- α blockade. In view of this, she commenced intravenous tocilizumab (8 mg/kg every 2 weeks), a humanised monoclonal antibody targeting the IL-6 receptor (IL-6R) that binds to membrane and soluble IL-6R, inhibiting IL-6-mediated signaling...
2018: Case Reports in Pediatrics
Samir Jabari, Roman Carbon, Manuel Besendörfer, Arndt Hartmann, Oliver Rompel, André Hoerning, Stephan Söder
Introduction: Asymmetric omphalopagus is a rare situation of conjoined twinning, in which a grossly defective twin is attached to the thorax and upper abdomen of the main twin. We describe a case of an asymmetric omphalopagus accompanied by a normal triplet after assisted reproductive technology (ART) and tried to further characterize the all aspects of the conjoined twins. Case Presentation : Perioperative diagnostic imaging was carried out followed by an autopsy to evaluate all aspects of the parasite accompanied by histological, immunohistochemical, and molecular biological evaluation...
2018: Case Reports in Pediatrics
Naima Baddouh, Lahcen Arjdal, Abdelaziz Raji, Mounir Bourrous
Summary: Foreign bodies in esophagus are avoidable accidents that occur most often in children younger than 3 years. The most common presenting symptoms are dysphagia, drooling, and vomiting. Revelation by respiratory distress is a rare and unusual condition. Objective: We describe and discuss the case of an esophageal foreign body, in which the patient presented with respiratory distress. Case report: A two-year-old child was admitted to the emergency department for acute respiratory distress...
2018: Case Reports in Pediatrics
Yvonne Lee, Erica Winnicki, Lavjay Butani, Stephanie Nguyen
Psychogenic polydipsia is a well-described phenomenon in those with a diagnosed psychiatric disorder such as schizophrenia and anxiety disorders. Primary polydipsia is differentiated from psychogenic polydipsia by the lack of a clear psychotic disturbance. We present a case of a 27-month-old boy who presented with polyuria and polydipsia. Laboratory studies, imaging, and an observed water deprivation test were consistent with primary polydipsia. Polydipsia resolved after family limited his fluid intake and began replacing water drinking with other transition objects and behaviors for self-soothing...
2018: Case Reports in Pediatrics
Zuhaib M Mir, Ami Wang, Andrea Winthrop, Mila Kolar
Bronchogenic cysts are rare, congenital cysts originating from respiratory epithelium and typically found within the chest. Cutaneous bronchogenic cysts are exceedingly uncommon, with only 19 reported cases in the scapular region and almost exclusively occurring in male patients. Herein, we present the case of a female patient with recurrent cellulitis secondary to a bronchogenic cyst, which was diagnosed after surgical excision. We also provide a review of the literature to consolidate the current understanding of cutaneous scapular bronchogenic cysts...
2018: Case Reports in Pediatrics
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