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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
Keng Wein Jeanette Tan, Jin Ho Chong, Jean Aan Mark Koh
The diagnosis and management of pediatric hypopigmented lesions can be challenging given their wide range of differentials. In this case report, we present a case of a 3-year-old Chinese boy who was initially treated for tinea versicolor but subsequently diagnosed to have clear cell papulosis. The features, diagnosis, and management of clear cell papulosis are discussed in this article to raise awareness of this condition amongst pediatricians.
2018: Case Reports in Pediatrics
Leah E Waldman, Alex K Williamson, John B Amodio, Lee Collins
Rhabdomyosarcoma is a malignant tumor of the soft tissues which preferentially affects the pediatric population. Neonatal rhabdomyosarcoma is rare, and much of the published literature concerning this entity consists of isolated case reports and small case series. Recent work involving the classification of rhabdomyosarcoma has helped to delineate prognostic information based on gene rearrangements. Here, we present a case of congenital rhabdomyosarcoma seen in utero which manifested as a neck mass at birth and was found to harbor a favorable gene fusion...
2018: Case Reports in Pediatrics
Gloria Tavera, Rina Lazebnik
The most common cause of primary amenorrhea is congenital malformation of the Müllerian ducts, including Müllerian agenesis, also known as Mayer-Rokitansky-Küster-Hauser syndrome (MRKH). Most general gynecologists and primary care physicians who see female adolescents will encounter MRKH in their careers. We present the case of an adolescent with MRKH who reported secondary, instead of primary amenorrhea. We discuss the subtleties of diagnosing MRKH, especially when patient history may not always be accurate...
2018: Case Reports in Pediatrics
Daniella Bello-Germino, Rasmey Chhin, Thu Tran, Tetyana L Vasylyeva
Hypomelanosis of Ito is a neurocutaneous disorder characterized by skin manifestations in a characteristic pattern associated with musculoskeletal and central nervous system symptoms. Our patient was diagnosed with Wilms' tumor stage I at age two and was also found to have distinct streaked areas of skin hyper- and hypopigmentation suggestive of Hypomelanosis of Ito. We believe that our patient's clinical diagnoses of Hypomelanosis of Ito and Wilms' tumor are interlinked. The connecting factor is yet to be identified...
2018: Case Reports in Pediatrics
Houda Nasser Al Yaqoubi, Muna Mubarak Al Badi, Farida Mohsin Ambu Saidi, Nasser Shaikhan Taaeeb Al Shafouri
Sirenomelia is a rare developmental malformation and is incompatible to life. The incidence of sirenomelia, as recorded in the literature, is estimated to be approximately between 1.5 and 4.2 per 1,00,000 births. Around 15% of sirenomelia cases are associated with twin pregnancy, most often in monozygotic cases with an incidence of 7%. In monozygotic twins, the risk of sirenomelia is nearly 100-150 times higher as compared to dizygotic twins or singleton pregnancies. Until now, only two cases of sirenomelia associated with hypoplastic left heart have been reported in the literature...
2018: Case Reports in Pediatrics
Noriko Namatame-Ohta, Shuntaro Morikawa, Akie Nakamura, Kumihiro Matsuo, Masahide Nakajima, Kazuhiro Tomizawa, Yusuke Tanahashi, Toshihiro Tajima
Almost 90% of nephrogenic diabetes insipidus (NDI) is caused by mutations in the arginine vasopressin receptor 2 gene ( AVPR2 ) on the X chromosome. Herein, we reported clinical and biochemical parameters in four cases of three unrelated Japanese families and analyzed the status of the AVPR2. Two of the four patients had poor weight gain. However, in the male and female sibling cases, neither had poor weight gain while toddlers, but in the male sibling, episodes of recurrent fever, polyuria, and polydipsia led to the diagnosis of NDI at 4 years of age...
2018: Case Reports in Pediatrics
D Hettiaracchchi, N Neththikumara, B A P S Pathirana, A Padeniya, V H W Dissanayake
No abstract text is available yet for this article.
2018: Case Reports in Pediatrics
F Neemuchwala, M Taki, E Secord, S Z Nasr
Newborn screening for cystic fibrosis (CF) enables early diagnosis and treatment leading to improved health outcomes for patients with CF. Although the sensitivity of newborn screening is high, false-negative results can still occur which can be misleading if clinicians are not aware of the clinical presentation of CF. We present a case of a young male with negative newborn screen diagnosed for CF. He was diagnosed at 3 years of age despite having symptoms indicative of CF since infancy. The delayed diagnosis resulted in diffuse lung damage and poor growth...
2018: Case Reports in Pediatrics
Soraia Tahan, Adriana Aparecida Siviero-Miachon, Maria de Fatima de Faria Soares, Elaine Cristina Soares Martins-Moura, Fabio Luis Peterlini, Mauro Batista de Morais, Angela Maria Spinola-Castro
Congenital hypothyroidism is a clinical emergency due to its potential risk of mental retardation. Constipation might be present in hypothyroid children. However, Hirschsprung disease is rarely associated with congenital hypothyroidism. Herein, a case of congenital hypothyroidism in a one-year-old child mimicking Hirschsprung disease is described. Adequate treatment with levothyroxine sodium tablets controlled intestinal dysmotility that mimicked congenital intestinal aganglionosis due to the critical influence of thyroid hormones on bowel motility...
2018: Case Reports in Pediatrics
Christina Bothou, Alexis Alexopoulos, Eleni Dermitzaki, Kleanthis Kleanthous, Anastasios Papadimitriou, George Mastorakos, Dimitrios T Papadimitriou
Atopic dermatitis (AD) is a chronic inflammatory disease affecting children and adolescence. The traditional therapeutic options for AD, including emollients topically and immune modulatory agents systemically focusing on reducing skin inflammation and restoring the function of the epidermal barrier, are proven ineffective in many cases. Several studies have linked vitamin D supplementation with either a decreased risk to develop AD or a clinical improvement of the symptoms of AD patients. In this report, we present a girl with severe AD who under adequate supplementation with cholecalciferol was treated with calcitriol and subsequently with paricalcitol...
2018: Case Reports in Pediatrics
Boonchai Boonyawat, Yiwa Suksawat, Punchama Pacharn, Piradee Suwanpakdee, Chanchai Traivaree
Vitamin K deficiency bleeding (VKDB) is a life-threatening condition and can be found in children as early as neonatal period with early onset intracranial hemorrhage (ICH). Here, we reported a 1-year-old boy who initially presented with intracranial hemorrhage secondary to vitamin K deficiency since 3 months of age and later found to have XL-CGD which was complicated by malabsorption due to severe vaccine-associated mycobacterial disease.
2018: Case Reports in Pediatrics
Rehan Rais, Iván González, Jacqueline M Saito, Louis P Dehner
Infantile hemangioma (IH) is one of the most common vascular anomalies of early childhood and is usually recognized in the first few weeks to months of life as a solitary cutaneous lesion. This report documents our experience with a GLUT-1 positive IH presenting as the pathologic lead point in a colocolic intussusception in a 10-week-old infant who had no skin lesions. Literature suggests approximately 2% of all children presenting with an intussusception require surgical intervention; however, an IH as the pathologic lead point is unique...
2018: Case Reports in Pediatrics
Zachary Zemore, Avni Sharma, Kerri Carter, Aline Baghdassarian
A pediatric patient with hypoxia or cyanosis can frighten even the most seasoned emergency providers. Patients with these symptoms require immediate evaluation and intervention to stabilize their condition. While the differential can be broad, specific attention must be paid to cardiopulmonary etiologies. Tetralogy of Fallot is the most common cyanotic congenital heart abnormality, and routine screening surprisingly misses a significant amount of these cases. This case serves as an example of a missed diagnosis by screening efforts and reaffirms the resuscitation algorithm of a hypoxic pediatric patient that all emergency providers should be familiar with...
2018: Case Reports in Pediatrics
T S Duffin, S W Thomas
Spinal fracture rates from NAT have been reported in <1-3% of spinal injury cases. We present a 13-month-old female who presented with signs of spinal cord injury and was found to have complete retrospondylolisthesis of T12 vertebra and multiple rib fractures in various stages of healing due to NAT. This case reports an extremely severe spinal injury due to NAT of which there are few in the literature and highlights the importance of suspicion of NAT when pediatric patients present with neurologic symptoms and spinal trauma without plausible mechanism of injury...
2018: Case Reports in Pediatrics
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