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Case Reports in Pediatrics

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https://www.readbyqxmd.com/read/28626595/williams-beuren-syndrome-and-congenital-lobar-emphysema-uncommon-association-with-common-pathology
#1
Timothy Andrew Walsh, Krishna Revanna Gopagondanahalli, Atul Malhotra
INTRODUCTION: Congenital lobar emphysema (CLE) and Williams-Beuren Syndrome are two rare conditions that have only been reported together in a single case study. CASE PRESENTATION: We report another case of a male Caucasian newborn with nonspecific initial respiratory distress, with detection of CLE on repeat chest X-ray on Day 25 of life and concurrent ventricular septal defect, supravalvular aortic stenosis, and branch pulmonary stenosis, in whom a 7q11.23 deletion consistent with Williams-Beuren Syndrome was made...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28607792/a-constellation-of-rare-findings-in-a-case-of-goldenhar-syndrome
#2
Mitesh Bedi, Rakesh Kumar Jain, Vipin Kumar Barala, Abhimanyu Singh, Hiranmayi Jha
An 18-month-old child presented with right macrostomia, bilateral preauricular skin tags, bilateral CTEV, squint in bilateral eyes, thoracic vertebral anomalies, right sided aortic arch, and associated left pulmonary agenesis. The patient did not have any associated respiratory symptoms. Ipsilateral pulmonary agenesis is considered as a rare association with Goldenhar syndrome and a case of contralateral pulmonary aplasia has been described as an even rarer association.
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28593064/physiological-striae-atrophicae-of-adolescence-with-involvement-of-the-axillae-and-proximal-arms
#3
Alexander K C Leung, Benjamin Barankin
We report a 16-year-old adolescent male with multiple violaceous, atrophic, vertical linear striae isolated to the axillae and proximal arms of approximately one-year duration. In the past two years, he indulged in heavy weight-lifting. He experienced a growth spurt over the past few years. The patient was otherwise in good health and was not on any medications. Physiological striae atrophicae of adolescence where the striae were restricted to the axillae and proximal arms have very rarely been reported.
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28593063/parotitis-as-an-initial-symptom-of-kawasaki-disease
#4
Koji Yokoyama
We report the case of a 13-month-old boy who developed right side parotitis as a first symptom of Kawasaki disease (KD). The data presented herein suggest that physicians should be aware that nonsuppurative parotitis is a possible manifestation of KD.
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28589054/a-patient-with-msud-acute-management-with-sodium-phenylacetate-sodium-benzoate-and-sodium-phenylbutyrate
#5
Melis Köse, Ebru Canda, Mehtap Kagnici, Sema Kalkan Uçar, Mahmut Çoker
In treatment of metabolic imbalances caused by maple syrup urine disease (MSUD), peritoneal dialysis, and hemofiltration, pharmacological treatments for elimination of toxic metabolites can be used in addition to basic dietary modifications. Therapy with sodium phenylacetate/benzoate or sodium phenylbutyrate (NaPB) in urea-cycle disorder cases has been associated with a reduction in branched-chain amino acid (BCAA) concentrations when the patients are on adequate dietary protein intake. Moreover, NaPB in treatment of MSUD patients is also associated with reduction of BCAA levels in a limited number of cases...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28584673/sclerema-neonatorum-treated-successfully-with-parenteral-steroids-an-experience-from-a-resource-poor-country
#6
Sandeep Shrestha, Nagendra Chaudhary, Sujit Koirala, Ruchi Gupta
Sclerema neonatorum is a form of panniculitides characterized by diffuse hardening of subcutaneous tissue with minimal inflammation. It usually affects ill and preterm neonates. Prognosis is usually poor in many cases despite aggressive management. Various treatment modalities (antibiotics, intravenous immunoglobulin, steroids, and exchange transfusion) have been explained in literature. Steroids due to its easy availability and low cost can prove to be lifesaving in such cases, especially in resource poor countries...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28567320/pneumoperitoneum-without-intestinal-perforation-in-a-neonate-case-report-and-literature-review
#7
Prabhavathi Gummalla, Gratias Mundakel, Maksim Agaronov, Haesoon Lee
Pneumoperitoneum in a preterm neonate usually indicates perforation of the intestine and is considered a surgical emergency. However, there are cases of pneumoperitoneum with no evidence of rupture of the intestine reported in the literature. We report a case of pneumoperitoneum with no intestinal perforation in a preterm neonate with respiratory distress syndrome who was on high frequency oscillatory ventilation (HFOV). He developed bilateral pulmonary interstitial emphysema with localized cystic lesion, likely localized pulmonary interstitial emphysema, and recurrent pneumothoraces...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28553553/use-of-chlorothiazide-in-the-management-of-central-diabetes-insipidus-in-early-infancy
#8
Manish Raisingani, Resmy Palliyil Gopi, Bina Shah
Management of central diabetes insipidus in infancy is challenging. The various forms of desmopressin, oral, subcutaneous, and intranasal, have variability in the duration of action. Infants consume most of their calories as liquids which with desmopressin puts them at risk for hyponatremia and seizures. There are few cases reporting chlorothiazide as a temporizing measure for central diabetes insipidus in infancy. A male infant presented on day of life 30 with holoprosencephaly, cleft lip and palate, and poor weight gain to endocrine clinic...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28523199/de-novo-pten-mutation-in-a-young-boy-with-cutaneous-vasculitis
#9
Angela Mauro, Ebun Omoyinmi, Neil James Sebire, Angela Barnicoat, Paul Brogan
Phosphatase and tensin homolog (PTEN) is the protein encoded by the PTEN gene (10q23.3). PTEN mutations are related to a variety of rare diseases referred to collectively as PTEN hamartoma tumor syndromes (PHTS), which include Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus Syndrome, and Proteus-like syndrome. These diseases are associated with an increased risk of malignancy and for this reason an accurate and early diagnosis is essential in order to institute cancer surveillance. PTEN is a regulator of growth and homeostasis in immune system cells, although there are limited data describing immune dysregulation caused by PTEN mutations...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28512591/sporadic-insulinoma-as-a-rare-cause-of-recurrent-hypoglycemia-in-children
#10
Hedyeh Saneifard, Ahmad Khaleghnejad Tabari, Maryam Kazemi Aghdam, Mohadese Musavi Khorshidi, Ali Sheikhy
Insulinoma is a rare pancreatic tumor in children and adolescents. As a result of insulin hypersecretion, signs and symptoms are more commonly consequences of the pathophysiologic responses to hypoglycemia. According to rarity of this tumor in children and nonspecificity of clinical presentations, diagnosis of insulinoma in this group of patients is usually delayed. Early diagnosis is very important for preventing neurologic damage. In this case report, we present the case of a 10-year-old boy with signs and symptoms of hypoglycemia and final diagnosis of insulinoma...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28503337/complete-ectopia-cordis-a-case-report-and-literature-review
#11
Simon Pius, Halima Abubakar Ibrahim, Mustapha Bello, Mohammed Bashir Tahir
Ectopia cordis is a congenital heart exposure defined as complete or partial protrusion of heart through ventral defect in the thoracoabdominal wall alone or with other viscera in cases of pentalogy of Cantrell. This condition was first described by Haller et al. in 1706; since then many advances have been made. Diagnosis of ectopia cordis is done prenatally in well-equipped health facility by antenatal ultrasound scan so that early diagnosis and management plan can be initiated. The index case was delivered to uneducated rural family and admitted at 3 days of life and survived for seven days, even though most literatures state that majority died within four days even with surgery...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28484659/systemic-pseudohypoaldosteronism-type-i-a-case-report-and-review-of-the-literature
#12
Nasifa Nur, Cameron Lang, Juanita K Hodax, Jose Bernardo Quintos
Systemic pseudohypoaldosteronism (PHA) type I is a rare genetic disorder resulting from mutations in the subunits of the epithelial sodium channel that manifests as severe salt wasting, hyperkalemia, and metabolic acidosis in infancy. In this article we report a patient with systemic PHA type I presenting with severe dehydration due to salt wasting at 6 days of life. She was found to have a known mutation in the SCNN1A gene and subsequently required treatment with sodium supplementation. We also review the clinical presentation, differential diagnosis, and treatment of systemic PHA type I and summarize data from 27 cases with follow-up data...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28484658/thermal-esophageal-injury-following-ingestion-of-boiling-mushroom-water
#13
Allison Prevost, Adam Talley, Emily Klepper, Elizabeth McDonough
Thermal esophageal and gastric damage from ingestion of hot liquids is poorly studied in pediatrics. Limited case reports exist in the literature. Many cases presented with chest pain, dysphagia, and odynophagia. Variable histologic findings were reported. No definitive management guidelines exist for such injuries. We provide a report of the acute assessment and management of an obvious thermal esophageal injury and contribute to what is known about this presentation. A 16-year-old male presented with odynophagia, dysphagia, and hematemesis following ingestion of "nearly boiling" mushroom water...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28473938/the-complexity-of-pain-management-in-children-affected-by-mucopolysaccharidoses
#14
Sabrina Congedi, Chiara Di Pede, Maurizio Scarpa, Angelica Rampazzo, Franca Benini
Mucopolysaccharidoses (MPSs) are a group of rare, genetic lysosomal storage disorders. They are caused by deficiencies of the lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs). Pain is a common feature in mucopolysaccharidoses. However, the pathophysiology of pain in this group of diseases is still unclear and genesis of pain is multifactorial. Currently, poor data about pain management in these patients are available. Here, we present our clinical experience in complex pain management in three children with MPS...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28473937/herpes-simplex-proctitis-mimicking-inflammatory-bowel-disease-in-a-teenaged-male
#15
Kristen E Sandgren, Nathan B Price, Warren P Bishop, Patrick J McCarthy
We report the case of a 17-year-old male who was initially assessed for pain with defecation, bloody rectal discharge, and diarrhea, consistent with proctitis. Though proctitis is most commonly due to inflammatory bowel disease (IBD), infectious etiologies must also be considered, including sexually transmitted causes of infectious proctitis. In discussion of his sexual history, he identified as homosexual and acknowledged engaging in receptive anal intercourse. Rectal biopsies obtained via colonoscopy were culture-positive for herpes simplex virus (HSV), leading to a diagnosis of HSV proctitis and treatment with an appropriate antiviral medication...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28469948/identifying-potential-child-abuse-through-oral-examination
#16
Jillian N Printz, Aaron Baker, Michele Carr
Limited reports of oropharyngeal trauma exist in the literature even though this type of injury is extremely common in pediatric populations. There are no widely agreed upon diagnostic and management tools for such injuries in abuse cases, emphasizing the importance of reporting rare cases of orofacial trauma. This case report of a soft palate laceration demonstrates an instance of initially unrecognized potential child abuse. We aim to clarify understanding of such injuries. Furthermore, the report highlights the need for recognition of oral signs of child abuse in order to promote early detection, reporting, and appropriate management...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28465854/high-risk-neuroblastoma-with-metastases-to-bilateral-kidneys-at-diagnosis
#17
Toshihide Yoshikawa, Akihiko Tanizawa, Koji Suzuki, Kazumi Ikeda, Eishi Nomura, Yumekichi Maeda, Nanae Tanaka, Kenta Yamada, Yasuhiro Sakai, Yoshiaki Imamura, Yusei Ohshima
Renal metastasis at diagnosis with neuroblastoma is rare. We present a 14-month-old boy who was diagnosed with high-risk neuroblastoma with multiple metastases, including bilateral kidneys. He received five cycles of induction chemotherapy and high-dose chemotherapy with autologous peripheral blood stem cell transplantation. All of the lesions shrank, and magnetic resonance imaging indicated that some of the metastases had disappeared. However, there were residual masses in the bilateral kidneys, and histological examination revealed the presence of tumor cells...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28465853/novel-heterozygous-mutations-in-jag1-and-notch2-genes-in-a-neonatal-patient-with-alagille-syndrome
#18
Alisa Brennan, Anil Kesavan
Alagille Syndrome (ALGS) is a rare autosomal dominant disorder that affects multiple organ systems. Cholestasis as a result of a paucity of intrahepatic bile ducts and congenital heart defects are the two most common features of ALGS. We describe a case of ALGS with novel mutations of JAG1 and NOTCH2 genes in a newborn girl with complex congenital heart disease, bilateral dysplastic kidneys, and malrotation with volvulus.
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28458939/isotretinoin-as-a-possible-environmental-trigger-to-autoimmunity-in-genetically-susceptible-patients
#19
Jocelyn Nugroho, Bahareh Schweiger
Introduction. Isotretinoin is commonly used to treat cystic acne. Definitive mechanisms of action for isotretinoin are not known though despite many side effects having been documented. Various case reports have noted autoimmune diseases succeeding isotretinoin treatment. Case Report. A 16-year-old female presents with symptoms of tremors, lack of focus, sleeplessness, emotional liability, bulging eyes, loose stools, heat intolerance, and missed menstrual periods. Symptoms manifested shortly after the patient finished a course of oral isotretinoin treatment for acne...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28428902/nonfamilial-juvenile-polyposis-syndrome-with-exon-5-novel-mutation-in-smad-4-gene
#20
Amna Ahmed, Badr Alsaleem
Juvenile polyposis syndrome (JPS) is a rare autosomal dominant hereditary disorder, characterized by multiple juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. JPS is most frequently caused by mutations in the SMAD4 or BMPR1A genes. Herein, we report a child with juvenile polyposis syndrome (JPS) with a novel mutation in the SMAD4 gene. An 8-year-old boy presented with recurrent rectal bleeding and was found to have multiple polyps in the entire colon. The histology of the resected polyps was consistent with juvenile polyps...
2017: Case Reports in Pediatrics
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