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Case Reports in Pediatrics

Shraddha Siwakoti, Sohani Bajracharya, Neetu Adhikaree, Rinku Sah, Rupa Singh Rajbhandari, Basudha Khanal
Introduction: Moraxella catarrhalis are part of the normal flora of the human respiratory tract and are known to have low pathogenic potential. The organism is rarely reported in the literature as the causative agent of meningitis. We report the first case of early-onset neonatal meningitis associated with M. catarrhalis from Nepal. Case Report: A 3-day-old baby with fever and yellowish discolouration of the body since 48 hrs was admitted to the neonatal ward...
2019: Case Reports in Pediatrics
Charyse Diaz, Matthew A Lim, Chloe A Liu, Chloe S Miwa, Darcy Tokunaga, Faith D Hamamura, Kara Yamamoto, David Kurahara
The presence of rheumatic heart disease (RHD) and systemic lupus erythematosus (SLE) has rarely been described in one patient. This report describes an adolescent Polynesian male with RHD who developed SLE years later. Initially, he fulfilled modified Jones criteria for rheumatic fever with aortic insufficiency, transient arthritis, elevated streptococcal titers, and a high erythrocyte sedimentation rate with a negative antinuclear antibody (ANA). He responded well to nonsteroidal anti-inflammatory and penicillin prophylaxis, which supported the diagnosis of rheumatic fever...
2018: Case Reports in Pediatrics
R El Qadiry, A Bourrahouat, I Aitsab, M Sbihi, Y Mouaffak, F Z Moussair, S Younous
Systemic lupus erythematosus (SLE) is a chronic autoimmune inflammatory disease of unknown cause, characterized by multisystemic involvement. Its occurrence in children is rare, and acute pancreatitis is exceptional in this matter. Its diagnosis is clinical, biological, and radiological. Its treatment is based on corticosteroid therapy, and its progress is generally lethal. We report two cases of acute pancreatitis in the course of SLE, highlighting its life-threatening severity despite well-conducted treatment...
2018: Case Reports in Pediatrics
Carolina Hvelplund, Kasper Pihl, Simon Trautner, Pernille Pedersen, Lisa Leth Maroun
Complications due to spontaneous septostomy of the dividing membrane in monochorionic diamniotic pregnancies are rarely described. Herein, we report the case of a preterm female neonate from a monochorionic diamniotic twin pregnancy delivered by caesarean section at 32 weeks of gestation. She was born with a broad band of a transparent membrane-like material firmly attached to her lower abdomen. Postnatally, she developed respiratory distress syndrome and persistent pulmonary hypertension, complicated by bilateral pneumothorax...
2018: Case Reports in Pediatrics
Ikuma Nozaki, Yumi Tone, Junko Yamanaka, Hideko Uryu, Yuko Shimizu-Motohashi, Noriko Sato, Takeji Matsushita
We report about a 14-year-old boy who presented with an anterior mediastinal mass that was diagnosed as malignant teratoma. Surgical resection was performed along with pre- and postoperative chemotherapy. Although elevated alpha-fetoprotein became negative, he experienced pain in his right hip joint 3 months after resection. Systematic evaluation revealed multiple locations of metastasis, and the pathological diagnosis based on bone biopsy was malignant melanoma originating from malignant teratoma, which rapidly progressed...
2018: Case Reports in Pediatrics
Timothy D Hicks, Himanshu Singh, Michel Mikhael, Anita R Shah
Epidermolysis bullosa (EB) is characterized by blistering of the skin and mucosal erosions caused by hemidesmosomal abnormalities. EB is divided into 3 major subgroups depending on the particular location of tissue separation: EB simplex, dystrophic EB, and junctional EB. Junctional EB (JEB) can further be broken down into Herlitz, non-Herlitz, and JEB with pyloric atresia (Carmi syndrome) depending on genetic and histologic testing. When extensive, management of a patient with EB can be challenging due to not only cutaneous but also extracutaneous manifestations as well...
2018: Case Reports in Pediatrics
Sheema Gaffar, John K Birknes, Kenji M Cunnion
Fungal infections are rare causes of acute surgical wound infections, but Candida is not an infrequent etiology in chronic wound infections. Trichophyton species is a common cause of tinea capitis but has not been reported as a cause of neurosurgical wound infection. We report a case of Trichophyton tonsurans causing a nonhealing surgical wound infection in a 14-year-old male after hemicraniectomy. His wound infection was notable for production of purulent exudate from the wound and lack of clinical improvement despite empiric treatment with multiple broad-spectrum antibiotics targeting typical bacterial causes of wound infection...
2018: Case Reports in Pediatrics
Tham Thi Tran, Quang Van Vu, Taizo Wada, Akihiro Yachie, Huong Le Thi Minh, Sang Ngoc Nguyen
Severe congenital neutropenia (SCN) is a rare disease that involves a heterogeneous group of hereditary diseases. Mutations in the HAX1 gene can cause an autosomal recessive form of SCN-characterized low blood neutrophil count from birth, increased susceptibility to recurrent and life-threatening infections, and preleukemia predisposition. A 7-year-old boy was admitted due to life-threatening infections, mental retardation, and severe neutropenia. He had early-onset bacterial infections, and his serial complete blood count showed persistent severe neutropenia...
2018: Case Reports in Pediatrics
Juanita Uribe-Londono, Lina Maria Castano-Jaramillo, Laura Penagos-Tascon, Andrea Restrepo-Gouzy, Andres-Felipe Escobar-Gonzalez
We present the case of an 8-year-old girl with hemophagocytic lymphohistiocytosis secondary to a Salmonella typhi infection. She received antibiotic treatment and intravenous immunoglobulin with complete resolution of the symptoms. We present a review of previously reported pediatric cases and propose a gradual approach to treatment.
2018: Case Reports in Pediatrics
Swastika Adhikari, Ashish Lal Shrestha, Sanjay Raj Thapa, Amrit Ghimire
Background: Acute pancreatitis (AP) coexisting with acute hepatitis (AH) in children is uncommon. Moreover, a single bacterial cause explaining both the complications is even rarer. Despite familiarity with the usual presentation of enteric fever, atypical presentations can go unnoticed. Case Presentation: A 16-year-old previously healthy male presented to the emergency unit with recurrent swinging pyrexia, abdominal symptoms, and jaundice for a week. Blood work-up revealed deranged liver function tests (LFTs) and elevated pancreatic enzymes...
2018: Case Reports in Pediatrics
Corina Ramona Nicolescu, Laura Kasongo, Léon Rausin
Trichorhinophalangeal syndrome (TRPS), a type of skeletal dysplasia, is characterized by a triad of dysmorphic (bulbous nose and large ears); ectodermal (thin and sparse hair); and skeletal (short stature and cone-shaped epiphyses) findings, and this combination is helpful for early diagnosis and appropriate follow-up. A 14-year-old boy presented with short stature and distinctive facial features, and following the first clinical and biological evaluation, no precise diagnosis was reached. Progressive bilateral development of noninflammatory and painless deformity of his second finger required a radiological exam that highlighted the key elements (cone-shaped epiphyses) for final diagnosis...
2018: Case Reports in Pediatrics
Hui-Fang Zhou, Christopher J O'Conor, Chiraag Gangahar, Louis P Dehner
Background: Omphalocele is a rare congenital abdominal wall defect. It is frequently associated with genetic abnormality and other congenital anomalies, although isolated omphalocele cases do exist. Data have shown that omphalocele with co-occurring genetic abnormality has worse prognosis than isolated omphalocele. Chromosomal analysis by a conventional technique such as karyotyping can only detect aneuploidy and large segmental duplication or deletion. Newer techniques such as high-resolution microarray analysis allow for the study of alterations in chromosomal segments that are less than 5 Mb in length; this has led to identification of critical region and genes in the pathogenesis of omphalocele...
2018: Case Reports in Pediatrics
Kuldeep Stohr, Guang Xia Xu
Pseudoparalysis presenting in infants is a rare manifestation, where infection and trauma are the principle differentials. We present a case of a two-week-old baby boy with pseudoparalysis who was initially diagnosed as Erb's palsy when presented in the emergency department and later re-presented with signs of sepsis. A later diagnosis of osteomyelitis of the humerus and septic arthritis of the shoulder was made. Despite antibiotic therapy and surgical drainage, the proximal epiphysis of his humerus remains abnormal; however, he has no apparent functional deficit of his right arm at four-year follow-up...
2018: Case Reports in Pediatrics
Dorota Kustrzycka, Marcin Mikulewicz, Anna Pelc, Piotr Kosior, Maciej Dobrzyński
The aim of this article was to present a characteristic clinical image of Melnick-Needles syndrome using an example of an 11.5-year-old female patient treated at the Facial Congenital Disorders Outpatient Clinic as well as to present the actual literature review of the surgical treatment. The patient was diagnosed with several characteristics typical for Melnick-Needles syndrome: single-sided hearing loss, malocclusion, and facial dysmorphism, among others. Due to malocclusion and facial dysmorphism, the patient with Melnick-Needles syndrome requires orthodontic treatment with surgical intervention...
2018: Case Reports in Pediatrics
Stella Stabouli, Euthymia Vargiami, Olga Maliachova, Nikoleta Printza, John Dotis, Maria Kyriazi, Konstantinos O Papazoglou, Dimitrios Zafeiriou
Arterial hypertension is a common finding in patients with neurofibromatosis (NF) type 1. Renovascular hypertension due to renal artery stenosis or midaortic syndrome could be the underlying cause. We report the case of a 4-year-old girl with NF type 1 and midaortic syndrome whose changes in blood pressure and pulse wave velocity suggested the evolution of vasculopathy, diagnosis of renovascular hypertension, and provided insights of response to treatment. Hypertension persisted after percutaneous transluminal angioplasty in the abdominal aorta, requiring escalation of antihypertensive treatment, while arterial stiffness demonstrated a mild decrease...
2018: 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
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