678 results match your criteria Case reports in pediatrics[Journal]


Maternal-Fetal Perinatal Transmission of Staphylococcal Infections: A Report of Two Neonates.

Case Rep Pediatr 2020 16;2020:8886049. Epub 2020 Jun 16.

Department of Pediatrics, Base Hospital, Maha Oya, Sri Lanka.

Staphylococcal infection in terms of fetus is rare and is associated with either maternal staphylococcal sepsis or colonization that leads to vertical transmission. Antenatal invasive procedures are a recognized risk factor. Most reported newborns with fetal-onset staphylococcal infections have had a worse outcome. Read More

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http://dx.doi.org/10.1155/2020/8886049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7315269PMC

Alveolar Echinococcosis in Children.

Case Rep Pediatr 2020 9;2020:5101234. Epub 2020 May 9.

Department of Pediatrics, Medical Academy, Lithuanian University of Health Sciences, Eivenių Str. 2, LT-50009 Kaunas, Lithuania.

Alveolar echinococcosis (AE) is an infectious zoonotic disease that is caused by . The disease is generally identified accidentally because of the long asymptomatic period, has a malignant behaviour, and mainly occurs in the liver. Usually it is diagnosed in adults and is very rare in pediatric patients. Read More

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http://dx.doi.org/10.1155/2020/5101234DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7238330PMC

It Is Complicated: The Medico-Social Journey of an Undocumented Pregnant Adolescent.

Case Rep Pediatr 2020 28;2020:6749630. Epub 2020 Apr 28.

Department of Pediatrics, St. Joseph's Health, 703 Main Street, Paterson, NJ 07503, USA.

Adolescent pregnancies are a global health problem with over 16 million children born to this age group globally. Adolescent females also represent almost half of all adolescent global migrants. Adolescent pregnancy by itself is associated with poor health care access and morbidities; the additional risk of social insecurity in the case of undocumented adolescent migrants leads to higher risks for the mother and newborn. Read More

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http://dx.doi.org/10.1155/2020/6749630DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7204337PMC

Hemoglobin Sunshine Seth: A Case Report of Low-Oxygen-Affinity Hemoglobinopathy.

Case Rep Pediatr 2020 10;2020:2853531. Epub 2020 Feb 10.

Mayo Clinic Children's Center, Mayo Clinic, Rochester, Minnesota, USA.

Pulse oximetry is routinely used in the newborn nursery for clinical monitoring and to detect critical congenital heart disease. The differential diagnoses for reduced peripheral oxygen saturation in an infant include congenital heart disease, respiratory distress syndrome, transient tachypnea of the newborn, persistent pulmonary hypertension of the newborn, meconium aspiration syndrome, pneumonia, pneumothorax, and sepsis. The diagnostic evaluation for neonatal hypoxemia can be invasive and expensive. Read More

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http://dx.doi.org/10.1155/2020/2853531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7204369PMC
February 2020

Unique Mutation in SP110 Resulting in Hepatic Veno-Occlusive Disease with Immunodeficiency.

Case Rep Pediatr 2020 10;2020:3460631. Epub 2020 Jan 10.

Department of Pediatrics, Tawam Hospital, Al-Ain, UAE.

Familial hepatic veno-occlusive disease with immunodeficiency (VODI, OMIM: 235550) is a rare form of combined immune deficiency (CID) that presents in the first few months of life with failure to thrive, recurrent infections, opportunistic infections along with liver impairment. Herein, we are describing a Pakistani patient with a homozygous novel variant in the gene, presenting with classical phenotypic manifestations of VODI. He presented at the age of 3 months with opportunistic infections and later developed liver failure. Read More

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http://dx.doi.org/10.1155/2020/3460631DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7199573PMC
January 2020

Successful Liposteroid Therapy for a Recurrent Idiopathic Pulmonary Hemosiderosis with Down Syndrome.

Case Rep Pediatr 2020 25;2020:5292947. Epub 2020 Apr 25.

Department of Pediatrics, Iwate Prefectural Iwai Hospital, Ichinoseki, Japan.

Idiopathic pulmonary hemosiderosis (IPH) is a rare and life-threatening disorder. Early diagnosis and appropriate management are essential for their better prognosis and patients' quality of life (QOL). It is considered that Down syndrome patients with IPH have a worse prognosis compared to other IPH cases. Read More

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http://dx.doi.org/10.1155/2020/5292947DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7197000PMC

Symptomatic Internal Carotid Agenesis in Children.

Case Rep Pediatr 2020 25;2020:3290460. Epub 2020 Apr 25.

Aseer Central Hospital, Abha, Saudi Arabia.

Carotid artery agenesis is a rare congenital anomaly, and there are controversies in the leading cause for it. We present a 6-year-old girl with resolved focal neurological ischemic stroke that showed bilateral internal carotid artery (ICA) agenesis. Through this paper, we highlight the carotid canal congenital obliteration hypothesis as it may be a risk for such finding. Read More

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http://dx.doi.org/10.1155/2020/3290460DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7196992PMC

Ocular Findings in the 16p11.2 Microdeletion Syndrome: A Case Report and Literature Review.

Case Rep Pediatr 2020 20;2020:2031701. Epub 2020 Apr 20.

Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA.

The recurrent 16p11.2 microdeletion is characterized by developmental delays and a wide spectrum of congenital anomalies. It has been well reported that individuals with this ∼593-kb interstitial deletion have an increased susceptibility toward the autism spectrum disorder (ASD). Read More

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http://dx.doi.org/10.1155/2020/2031701DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7189309PMC

Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to Variants in and .

Case Rep Pediatr 2020 17;2020:4206348. Epub 2020 Apr 17.

Department of Pediatrics, The University of Calgary and the Alberta Children's Hospital, Calgary, Alberta, Canada.

We report two Hong Kong children with severe generalized epidermolysis bullosa simplex (EBS), the most severe form of EBS, without a family history of EBS. EBS is a rare genodermatosis usually inherited in an autosomal dominant fashion although rare autosomal recessive cases have been reported. Genetic studies in these patients showed that the first case was due to a novel heterozygous variant, c. Read More

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http://dx.doi.org/10.1155/2020/4206348DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7183525PMC

A Case Report of Monkeypox in a 4-Year-Old Boy from the DR Congo: Challenges of Diagnosis and Management.

Case Rep Pediatr 2020 9;2020:8572596. Epub 2020 Apr 9.

Global Health Unit, Department of Paediatric and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen Ø, Denmark.

Monkeypox (MP) is a rare zoonotic disease that most commonly transmits from bush animals to humans in the Congo Basin of Africa. However, an increase in cases of MP has been observed over the past decades with frequent outbreaks as well as export of the disease out of the African continent. MP belongs to the same genus of viruses as smallpox, the , and vaccination against smallpox gives some protection against MP. Read More

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http://dx.doi.org/10.1155/2020/8572596DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7171673PMC

A 16-Day-Old Infant with a Clinical Diagnosis of Classical Cornelia de Lange Syndrome.

Case Rep Pediatr 2020 8;2020:6482938. Epub 2020 Apr 8.

Universidad Francisco Marroquín School of Medicine, Guatemala City 01010, Guatemala.

Cornelia de Lange syndrome (CdLS) is a rare syndromic genetic disorder characterized by multiple congenital anomalies with upper limb reduction defects, along with cardiac, gastrointestinal, and genitourinary defects. It is caused by genetic variations in the chromatin regulator genes, most commonly, the cohesin complex. Even though molecular genetic testing is highly recommended to confirm the diagnosis, high costs and unavailability in some settings are significant setbacks, and clinical criteria could be used. Read More

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http://dx.doi.org/10.1155/2020/6482938DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7171661PMC

A Rare Case of Juvenile Idiopathic Arthritis following a Ruptured Baker's Cyst in a Toddler.

Case Rep Pediatr 2020 6;2020:1601348. Epub 2020 Apr 6.

Department of Paediatrics, Dr Gray's Hospital, NHS Grampian, Aberdeen, UK.

A Baker's cyst is usually an incidental finding in adults being investigated for a joint arthropathy, and its rupture preceding the diagnosis of juvenile idiopathic arthritis (JIA) is rare in children. Here, we describe a case of a 4-year-old girl who presented to the Emergency Department with right calf pain, swelling, and no preceding history of trauma. MRI confirmed a ruptured Baker's cyst with inflammatory arthropathy alongside an extensive synovial proliferation throughout the knee joint with large joint effusions and associated soft tissue oedema tracking superiorly and inferiorly along the medial head of gastrocnemius and anteriorly along the tibia. Read More

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http://dx.doi.org/10.1155/2020/1601348DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7165340PMC

Screening Children with a Family History of Central Congenital Hypoventilation Syndrome.

Case Rep Pediatr 2020 26;2020:2713606. Epub 2020 Mar 26.

Department of Pediatrics, The University of Texas Health Science Center at Houston, McGovern Medical School, Houston, TX, USA.

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder of an autonomic nervous disorder that affects breathing. It is characterized by respiratory insufficiency secondary to insensitivity to hypoxemia and hypercarbia, particularly during sleep leading to persistent apnea. We report four individuals across two generations harboring heterozygous 25 polyalanine repeats mutations (PARMs) in PHOX2B with a varying degree of phenotypic clinical manifestations. Read More

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http://dx.doi.org/10.1155/2020/2713606DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7136801PMC

Laugier-Hunziker Syndrome in an 8-Year-Old Boy with Scleral Melanocytosis, Lingual Pigmentation, Labial Pigmentation, and Melanonychia Striata.

Case Rep Pediatr 2020 17;2020:8267805. Epub 2020 Mar 17.

Department of Dermatology and Skin Sciences, University of British Columbia, Vancouver, British Columbia V5Z 1K1, Canada.

Laugier-Hunziker syndrome is a rare, acquired disorder characterized by mucocutaneous hyperpigmentation and melanonychia striata with no underlying systemic abnormalities. We report an 8-year-old boy with Laugier-Hunziker syndrome who presented with melanonychia striata affecting all the fingernails and toenails, macular pigmentation on the tongue and the lower lip, and scleral melanocytosis. Melanonychia striata rarely affect all the twenty nails, and scleral melanocytosis has rarely been reported in association with Laugier-Hunziker syndrome. Read More

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http://dx.doi.org/10.1155/2020/8267805DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7103058PMC

Acute Megakaryoblastic Leukemia with Trisomy 21 and Tetrasomy 21 Clones in a Phenotypically Normal Child with Mosaic Trisomy 21.

Case Rep Pediatr 2020 17;2020:7813048. Epub 2020 Mar 17.

Department of Pediatrics, UCSD School of Medicine, La Jolla, CA, USA.

Pediatric acute megakaryoblastic leukemia (AMKL) is a rare subtype of acute myeloid leukemia (AML) that may be divided into two subgroups: (1) Down syndrome- (DS-) related AMKL which generally has a favorable prognosis and (2) non-DS-related AMKL which generally has a poorer outcome. We report a phenotypically normal child with AMKL with trisomy 21 (T21) and tetrasomy 21 clones. Subsequently, she was diagnosed with mosaic T21. Read More

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http://dx.doi.org/10.1155/2020/7813048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7103042PMC

Acquired Immunodeficiency from Maternal Chemotherapy and Severe Primary Infection in an Infant.

Case Rep Pediatr 2020 15;2020:5740304. Epub 2020 Mar 15.

Department of Respiratory and Sleep Medicine, Queensland Children's Hospital, 501 Stanley Street, South Brisbane, Queensland 4101, Australia.

is recognized as an opportunistic pathogen in immunosuppressed patients. We report a case of severe pneumonia (PCP) in an infant with acquired combined immunodeficiency secondary to maternal chemotherapy exposure during the second and third trimesters of pregnancy. The infant required cardiorespiratory support with veno-venous extracorporeal membrane oxygenation (VV-ECMO) for severe respiratory failure. Read More

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http://dx.doi.org/10.1155/2020/5740304DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7102488PMC

Brain Abscess Associated with Polymicrobial Infection after Intraoral Laceration: A Pediatric Case Report.

Case Rep Pediatr 2020 9;2020:8304302. Epub 2020 Mar 9.

Department of Pediatrics, Ehime University Graduate School of Medicine, Toon, Ehime, Japan.

Brain abscesses, infections within the brain parenchyma, can arise as complications of various conditions including infections, trauma, and surgery. However, brain abscesses due to polymicrobial organisms have rarely been reported in children. We herein report a case of a 9-year-old girl with unresolved congenital cyanotic heart disease (CCHD) presenting with right hemiplegia who was diagnosed with brain abscess caused by , , and after oropharyngeal injury. Read More

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http://dx.doi.org/10.1155/2020/8304302DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7085370PMC

Subcutaneously Anchored Sutureless Device for Securement of Chest Tubes in Neonates with Pleural Effusion: Three Case Reports.

Case Rep Pediatr 2020 10;2020:7480483. Epub 2020 Mar 10.

Department of Surgery, Catholic University Medical School, Rome, Italy.

We report the clinical cases of three neonates, all of them premature, requiring the placement of a chest tube for drainage of a massive pleural effusion. In all three patients, the chest tube was secured using a new subcutaneously anchored sutureless system. This new securement device was easy to insert and to remove, and highly effective in preventing dislodgment. Read More

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http://dx.doi.org/10.1155/2020/7480483DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7086429PMC

Carglumic Acid Contributes to a Favorable Clinical Course in a Case of Severe Propionic Acidemia.

Case Rep Pediatr 2020 9;2020:4709548. Epub 2020 Mar 9.

Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.

Propionic acidemia (PA) is manifested as an abnormal accumulation of propionic acid and its metabolites, including methylcitrate, 3-hydroxypropionic acid, and propionylglycine, and is caused by a defect of propionyl-CoA carboxylase. PA is complicated by acute life-threatening metabolic crises, which are precipitated by a catabolic state and result in multiple organ failure or even death, if untreated. A neonate with PA recovered from the first metabolic crisis 3 days after birth but developed a second metabolic crisis during the recovery phase. Read More

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http://dx.doi.org/10.1155/2020/4709548DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7085357PMC

The Value of Imagistics in Early Diagnosis of Tuberous Sclerosis.

Case Rep Pediatr 2020 10;2020:1309184. Epub 2020 Mar 10.

Department of Neonatology, "Victor Babes" University of Medicine and Pharmacy, Timisoara, Romania.

Tuberous sclerosis complex is a multisystemic genetic disorder with high phenotypical variability. Its progress frequently brings along autism (61%), epilepsy, intellectual disability (45%), and neurocognitive impairment (Gipson and Johnston, 2017). We are considering the case of an infant suspected with tuberous sclerosis complex by imagistic investigation in the prenatal period. Read More

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http://dx.doi.org/10.1155/2020/1309184DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7085840PMC

Presumptive Infection in a Toddler.

Case Rep Pediatr 2020 7;2020:4716124. Epub 2020 Mar 7.

The University of Texas Health Science Center, McGovern Medical School, Pediatric Infectious Diseases Division, 6431 Fannin, MSB 3.126, Houston, TX 77030, USA.

We report a female toddler who presented repetitively with a chief complaint of motile white worms seen in her diapers. Symptoms of perianal itching and visualization of visible motile worms persisted for 6 months despite being treated with multiple courses of albendazole causing a lot of frustration and distress to the caregivers. The characteristics of the worms by inspection along with the presence of 3 pet dogs are consistent with . Read More

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http://dx.doi.org/10.1155/2020/4716124DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7081025PMC

Bone Infarct as an Indicator of Acute Spinal Ischaemia.

Case Rep Pediatr 2020 26;2020:9703625. Epub 2020 Feb 26.

Paediatric Neurology, Paediatrics Department, Ramon y Cajal Hospital, Alcala University, Madrid, Spain.

Acute spinal cord infarct in childhood is extremely rare, generally secondary to spinal/cardiovascular surgery or severe vertebral injuries. However, spontaneous spinal cord infarct cases have been described. We present a clinical case of a teenager who developed an acute weakness and paraesthesia in lower limbs after playing piggyback. Read More

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http://dx.doi.org/10.1155/2020/9703625DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7063203PMC
February 2020

Pediatric Collagenous Gastroenterocolitis Successfully Treated with Methotrexate.

Case Rep Pediatr 2020 22;2020:1929581. Epub 2020 Feb 22.

Division of Gastroenterology, Boston Children's Hospital, Boston, MA, USA.

A two-and-one-half-year-old previously healthy female presented with a ten-week history of watery diarrhea, nonbilious and nonbloody emesis, and low-grade fevers. She was found to have severe hypoalbuminemia and hypogammaglobulinemia. Her symptoms persisted, and she became dependent on parenteral nutrition. Read More

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http://dx.doi.org/10.1155/2020/1929581DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7060430PMC
February 2020

Congenital Cytomegalovirus Infection Presenting with Hyperbilirubinemia and Splenomegaly in a Term Infant with Trisomy 21.

Case Rep Pediatr 2020 12;2020:2534629. Epub 2020 Feb 12.

Division of Developmental and Behavioral Pediatrics, University of Michigan Medical School, Ann Arbor, MI, USA.

Congenital cytomegalovirus infection (cCMV) is very common, yet the presentation can be varied, making the diagnosis challenging. However, early diagnosis for treatment with medication in symptomatic cases within the first month of life is critical. Hyperbilirubinemia and splenomegaly are less common manifestations at birth and may be overlooked in the setting of other symptoms, especially in a critically ill neonate. Read More

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http://dx.doi.org/10.1155/2020/2534629DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7038383PMC
February 2020

Hepatic Failure following Metronidazole in Children with Cockayne Syndrome.

Case Rep Pediatr 2020 29;2020:9634196. Epub 2020 Jan 29.

Pediatric Gastroenterology and Hepatology Research Center, Tehran University of Medical Sciences, Department of Pediatric, Bahrami Children's Hospital, Tehran, Iran.

Cockayne syndrome is an uncommon autosomal recessive disease characterized by microcephaly, abnormal growth, and pathologic premature aging. The purpose of this report is to evaluate liver failure in children with Cockayne syndrome following metronidazole administration. The first case was a 2-year-old boy with Cockayne syndrome. Read More

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http://dx.doi.org/10.1155/2020/9634196DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7008298PMC
January 2020

Clinical and Biochemical Features in a Case of Familial Hypocalciuric Hypercalcemia Type 3 with Gene Mutation in Codon Arg15His.

Case Rep Pediatr 2020 28;2020:7312894. Epub 2020 Jan 28.

Department of Pediatrics, Dubai Hospital, Dubai Health Authority, Dubai, UAE.

Familial hypocalciuric hypercalcemia (FHH) is usually a benign condition divided into three types. FHH-3 occurs in about 20% of the cases and is caused due to missense mutations in (adaptor-related protein complex 2 subunit sigma 1) involving the codon Arg15 (p.R15). Read More

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http://dx.doi.org/10.1155/2020/7312894DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7007930PMC
January 2020

Intraluminal Duplication of the Terminal Ileum with Ectopic Gastric Mucosa in an Infant: A Rare Cause of Intussusception.

Case Rep Pediatr 2020 27;2020:6898795. Epub 2020 Jan 27.

Division of Pediatric Surgery, Fondazione Policlinico Universitario "Agostino Gemelli" IRCCS, Largo Agostino Gemelli 8, 00168 Rome, Italy.

Enteric duplication cysts are rare malformations mostly diagnosed before the age of two, with varied clinical presentations. Ectopic gastrointestinal epithelium can be present, and management involves surgical resection. A three-month-old girl presented with rectal bleeding due to an ileocolic intussusception. Read More

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http://dx.doi.org/10.1155/2020/6898795DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7007750PMC
January 2020

Lichen Striatus with Nail Involvement in a 6-Year-Old Boy.

Case Rep Pediatr 2020 27;2020:1494760. Epub 2020 Jan 27.

Toronto Dermatology Centre, Toronto, Ontario M3H 5Y8, Canada.

We describe a 6-year-old boy with an asymptomatic linear eruption on the left index finger with mild erythema of the proximal nail fold, nail dystrophy, and subungual hyperkeratosis of the nail. A diagnosis of nail lichen striatus was made. The child was successfully treated with a topical corticosteroid. Read More

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http://dx.doi.org/10.1155/2020/1494760DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7007745PMC
January 2020

Gastroduodenal Emphysema with Portal Venous Air due to Congenital Duodenal Web in a Child: A Case Report and Review of Literature.

Case Rep Pediatr 2020 17;2020:9897208. Epub 2020 Jan 17.

Department of Community Medicine, Faculty of Medicine and Allied Sciences, Rajarata University of Sri Lanka, Saliyapura 50008, Sri Lanka.

Congenital duodenal web causing proximal duodenal obstruction leading to gastroduodenal emphysema is a very rare presentation in infancy. Due to persistent 
peristalsis against the duodenal membrane, there is progressive stretching of the duodenal web leading to windsock deformity. We describe a rare case of a child with gastroduodenal emphysema and portal venous air due to duodenal obstruction secondary to a duodenal web. Read More

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http://dx.doi.org/10.1155/2020/9897208DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6988673PMC
January 2020

Air Leak Syndrome: Pneumoperitoneum in a Ventilated Neonate.

Case Rep Pediatr 2019 27;2019:4238601. Epub 2019 Dec 27.

University of Texas Health San Antonio, San Antonio, TX, USA.

Air leak syndrome has several manifestations and is common in neonates with meconium aspiration syndrome (MAS) due to air trapping. While pneumoperitoneum is classically a result of intestinal perforation, intra-abdominal free air may be a less common presentation of air leak syndrome. In the ventilated neonate, there is insufficient clinical evidence outlining management of pneumoperitoneum in this situation. Read More

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http://dx.doi.org/10.1155/2019/4238601DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6949679PMC
December 2019

Unusual Course of Scimitar Syndrome Preceded by Lung Hypoplasia.

Case Rep Pediatr 2019 20;2019:8927243. Epub 2019 Dec 20.

Department of Neonatology, Ibaraki Children's Hospital, 3-3-1 Futabadai, Mito-city, Ibaraki 311-4145, Japan.

In patients with Scimitar syndrome, right pulmonary artery hypoplasia is considered to lead to right lung hypoplasia because of decrease in blood flow. However, there are no reports wherein the change was actually detected. Thus, the exact developmental mechanism of right pulmonary artery hypoplasia and right lung hypoplasia in patients with Scimitar syndrome is unclear. Read More

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http://dx.doi.org/10.1155/2019/8927243DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6939417PMC
December 2019

Cardiac Murmur in a Boy with Normal Paternal Prenatal Carrier Screening for Pompe Disease.

Case Rep Pediatr 2019 12;2019:6274979. Epub 2019 Dec 12.

Department of Genetics, Children's Hospital of Michigan, Detroit, MI, USA.

Introduction: Pompe disease is an autosomal recessive lysosomal storage disorder with marked morbidity and mortality, if untreated. With the advent of enzyme replacement therapy, it is essential to identify the infantile-type as early as possible to mitigate the effects of the enzyme deficiency. Identification is possible prenatally with testing of both parents. Read More

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http://dx.doi.org/10.1155/2019/6274979DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6930708PMC
December 2019

Orofacial Granulomatosis in a Child.

Case Rep Pediatr 2019 3;2019:7519267. Epub 2019 Dec 3.

West Virginia University Department of Otolaryngology, Morgantown, WV, USA.

Orofacial granulomatosis (OFG) is a rare, idiopathic disorder of the orofacial region. It is clinically characterized by persistent and/or recurrent enlargement of the soft tissues of the oral and maxillofacial region, often manifesting as labial enlargement and swelling of intraoral sites such as the gingiva, tongue, and buccal mucosa. Full-thickness mucosal biopsy reveals noncaseating granulomatous inflammation, similar to Crohn's disease and sarcoidosis. Read More

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http://dx.doi.org/10.1155/2019/7519267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6915030PMC
December 2019

Pontocerebellar Hypoplasia Maps to Chromosome 7q11.23: An Autopsy Case Report of a Novel Genetic Variant.

Case Rep Pediatr 2019 10;2019:7048537. Epub 2019 Dec 10.

A. M. Rywlin MD Department of Pathology, Mount Sinai Medical Center, Miami Beach, FL, USA.

Pontocerebellar hypoplasias are a group of autosomal recessive neurodevelopmetal disorders with varied phenotypic presentations and extensive genetic mutational landscape that are currently classified into ten subtypes. This classification is based predominantly on the genetic iterations as the phenotypic presentations are often broad and overlapping. Pontocerebellar hypoplasia type-3 (PCH3) is an autosomal recessive disorder characterized by a small cerebellar vermis, hyperreflexia, and seizures, described in Middle Eastern families in association with a homozygous truncating mutation of the gene in locus 7q11-21. Read More

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http://dx.doi.org/10.1155/2019/7048537DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6925823PMC
December 2019

An Isolated Hypogonadotropic Hypogonadism due to a L102P Inactivating Mutation of KISS1R/GPR54 in a Large Family.

Case Rep Pediatr 2019 16;2019:3814525. Epub 2019 Oct 16.

Umm Al-Qura University, Medical College, (A.A, L.A), Makkah, Saudi Arabia.

KISS1R (GPR54) mutations have been reported in several patients with congenital normosmic idiopathic hypogonadotropic hypogonadism (nIHH). We aim to describe in detail nIHH patients with KISS1R (GPR54) mutations belonging to one related extended family and to review the literature. A homozygous mutation (T305C) leading to a leucine substitution with proline (L102P) was found in three affected kindred (2 males and 1 female) from a consanguineous Saudi Arabian family. Read More

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http://dx.doi.org/10.1155/2019/3814525DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6815991PMC
October 2019

Extensive Epidermal Skin Loss Secondary to HSV Type One: Neonatal Management Challenges.

Case Rep Pediatr 2019 5;2019:2459219. Epub 2019 Dec 5.

Department of Neonatology, Nottingham University Hospitals NHS Trust, Nottingham, UK.

We describe a rare case of a preterm neonate presenting at birth with extensive epidermal skin loss of over 90% due to disseminated herpes simplex virus type one infection. Differential diagnosis included aplasia cutis and epidermolysis bullosa. Serum PCR and mouth swabs confirmed HSV type one, and the patient required three weeks of treatment with intravenous aciclovir, followed by oral aciclovir. Read More

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http://dx.doi.org/10.1155/2019/2459219DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6915126PMC
December 2019

Combined Fundal and Segmental Adenomyomatosis of the Gallbladder in a Child: A Rare Case Report.

Case Rep Pediatr 2019 28;2019:2659089. Epub 2019 Nov 28.

Department of Pediatric Surgery, Fukushima Medical University Hospital, 1 Hikarigaoka, Fukushima City, Fukushima 960-1247, Japan.

Adenomyomatosis of the gallbladder (AMG) is characterized by mucosal hyperplasia leading to invagination through the thickened muscle layer, which is relatively common in adults, but is rare in childhood. We report a 12-year-old boy with adenomyomatosis of the gallbladder combined segmental and fundal type. This combined type is rare in adults and is first reported here in childhood. Read More

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http://dx.doi.org/10.1155/2019/2659089DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6907037PMC
November 2019

Infantile Iatrogenic Cushing Syndrome due to Topical Steroids.

Case Rep Pediatr 2019 2;2019:2652961. Epub 2019 Dec 2.

Department of Pediatric Endocrinology, Prince Sultan Medical City, Riyadh, Saudi Arabia.

Cushing syndrome is an endocrinological disorder characterized by increased free plasma glucocorticoids level. It is either due to an excessive endogenous release of steroids (e.g. Read More

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http://dx.doi.org/10.1155/2019/2652961DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913302PMC
December 2019

Improvement in Impaired Social Cognition but Not Seizures by Everolimus in a Child with Tuberous Sclerosis-Associated Autism through Increased Serum Antioxidant Proteins and Oxidant/Antioxidant Status.

Case Rep Pediatr 2019 23;2019:2070619. Epub 2019 Nov 23.

Department of Pediatrics, Dokkyo Medical University, Mibu, Tochigi 321-0293, Japan.

We investigated the effect of the mammalian target of rapamycin (mTOR) inhibitor everolimus on tuberous sclerosis complex- (TSC-) associated autistic symptoms and focal seizures with impaired awareness in a female child with TSC. We further evaluated the relationship between improved autistic symptoms and seizures and increased the serum levels of the antioxidant proteins, ceruloplasmin (Cp) and transferrin (Tf), and oxidant-antioxidant status indicated by the oxidant marker oxidized low-density lipoprotein (ox-LDL) and the antioxidant marker total antioxidant power (TAP). Everolimus treatment improved impaired social cognition and autistic behaviors; however, seizure and epileptic activity persisted. Read More

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http://dx.doi.org/10.1155/2019/2070619DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6907049PMC
November 2019

Left Ventricular Noncompaction in a Child with Turner Syndrome.

Case Rep Pediatr 2019 11;2019:6824321. Epub 2019 Nov 11.

Department of Pediatrics, University of Texas Medical Branch, Galveston, TX, USA.

Congenital heart disease (CHD) may cause a significant comorbidity in patients with Turner syndrome. The commonly reported CHD in these patients includes bicuspid aortic valve and coarctation of the aorta. Left ventricular noncompaction (LVNC) is a rare form of cardiomyopathy that has been reported in literature only three times in adult patients with Turner syndrome. Read More

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http://dx.doi.org/10.1155/2019/6824321DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6881561PMC
November 2019

Pruritic Crusted Scabies in an Immunocompetent Infant.

Case Rep Pediatr 2019 20;2019:9542857. Epub 2019 Oct 20.

Department of Dermatology and Skin Sciences, University of British Columbia and BC Children's Hospital, Vancouver, Canada.

Crusted scabies (also known as Norwegian scabies) is a highly contagious variant of scabies characterized by profuse proliferation of mites in the skin and widespread, crusted, hyperkeratotic papules, plaques, and nodules. Typically, pruritus is minimal or absent. The condition usually occurs in immunocompromised individuals. Read More

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http://dx.doi.org/10.1155/2019/9542857DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6854927PMC
October 2019

A Case of Kawasaki Disease Accompanied by Encephalitis and Several Kinds of Arrhythmia during the Acute Phase.

Case Rep Pediatr 2019 20;2019:7358753. Epub 2019 Oct 20.

Hiroshima Citizens Hospital, Department of Pediatric Neurology, Hiroshima, Japan.

Although central nervous system complications occasionally accompany during the acute phase of Kawasaki disease, clinically problematic arrhythmia is quite rare. We report a case accompanied by encephalitis and several kinds of problematic arrhythmia. Following the diagnosis of Taussig-Bing anomaly and coarctation of the aorta, the patient underwent aortic arch reconstruction, an arterial switch operation, and ventricular septal defect closure. Read More

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http://dx.doi.org/10.1155/2019/7358753DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6854947PMC
October 2019

Myocardial Infarction in Neonates: A Diagnostic and Therapeutic Challenge.

Case Rep Pediatr 2019 24;2019:7203407. Epub 2019 Oct 24.

Neonatal Research Group, Health Research Institute La Fe, Valencia, Spain.

Neonatal acute myocardial infarction is an uncommon entity. We describe the case of a 4-day-old term baby who presented with respiratory distress and distal acrocyanosis. The chest radiograph demonstrated cardiomegaly without pleural effusion, and examination revealed hepatomegaly. Read More

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http://dx.doi.org/10.1155/2019/7203407DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6854977PMC
October 2019

Long-Term Remission of a Spinal Atypical Teratoid Rhabdoid Tumor in Response to Intensive Multimodal Therapy.

Case Rep Pediatr 2019 13;2019:3842835. Epub 2019 Oct 13.

Department of Pathology, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.

Atypical teratoid rhabdoid tumors (ATRTs) are rare and aggressive central nervous system tumors that infrequently arise in spinal locations in young children. Provided clinical and diagnostic suspicion is high, the histopathological diagnosis is relatively straightforward to secure by testing for the characteristic loss of the tumor suppressor protein . Here, we describe a case of thoracic spinal ATRT in a three-year-old boy that showed characteristic aggressive progression until managed with intensive multimodal therapy to achieve durable long-term remission. Read More

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http://dx.doi.org/10.1155/2019/3842835DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6815537PMC
October 2019

Mucinous Colorectal Carcinoma in a 17-Year-Old Male: A Diagnosis with Low Clinical Index of Suspicion.

Case Rep Pediatr 2019 25;2019:6371579. Epub 2019 Sep 25.

Department of Pathology, Kilimanjaro Christian Medical Centre (KCMC), Kilimanjaro, Tanzania.

Colorectal carcinoma (CRC) is commonly found in adults. CRC in the pediatric population is extremely rare. Usually, CRC is diagnosed in children at advanced stage due to a low clinical index of suspicion. Read More

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http://dx.doi.org/10.1155/2019/6371579DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6778923PMC
September 2019
3 Reads

Fever-Associated Supraventricular Tachycardia after 4CMenB Vaccination in an Infant.

Case Rep Pediatr 2019 22;2019:4591964. Epub 2019 Sep 22.

Memorial Ataşehir Hospital, Department of Pediatrics, 34758 Istanbul, Turkey.

Meningococcal serogroup B vaccine 4CMenB (Bexsero) is a new four-component protein vaccine developed to prevent serogroup B infections. . We report a girl with fever and supraventricular tachycardia (SVT) 6-8 hours after the second dose of 4CMenB. Read More

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http://dx.doi.org/10.1155/2019/4591964DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6778906PMC
September 2019
1 Read

Abdominal Lymphangioma and Hemangioma in a Newborn.

Case Rep Pediatr 2019 17;2019:6879168. Epub 2019 Sep 17.

2 Pediatric Surgery Department, Aristotle University of Thessaloniki, Thessaloniki 54640, Greece.

Abdominal hemangiolymphangioma (HLA) in neonates is a rare condition that demands surgical intervention after a complete preoperative diagnostic approach. The differential diagnosis and the establishment of a therapeutic algorithm is a challenge, both for the neonatologists and the pediatric surgeons, because there is no consensus in the management of HLAs in infancy according to the literature. We report a rare case of abdominal HLA in a female newborn that was admitted to our pediatric surgery department with a prenatal diagnosis of an abdominal cystic tumor. Read More

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http://dx.doi.org/10.1155/2019/6879168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6766113PMC
September 2019
2 Reads

Mesenchymal Hamartoma in Children: A Diagnostic Challenge.

Case Rep Pediatr 2019 16;2019:4132842. Epub 2019 Sep 16.

Division of Pediatric Gastroenterology & Hepatology, Department of Pediatrics, Mayo Clinic, Rochester, Minnesota, USA.

Mesenchymal hamartoma is a benign tumor of the liver with a poorly understood pathogenesis. It is uncommon in older children, especially after 2 years of age. The signs and symptoms may be nonspecific; therefore, a high index of suspicion is required for diagnosis and treatment. Read More

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http://dx.doi.org/10.1155/2019/4132842DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6766091PMC
September 2019
1 Read

Infantile Myofibroma Presenting as a Large Ulcerative Nodule in a Newborn.

Case Rep Pediatr 2019 17;2019:3476508. Epub 2019 Sep 17.

Ann & Robert H. Lurie Children's Hospital, Chicago, Illinois, USA.

The differential diagnosis of a congenital cutaneous vascular-appearing mass in a newborn is broad and includes both benign and malignant tumors. We report the case of a newborn who presented with an erythematous exophytic skin nodule on the right upper leg. Excision was performed due to ulceration, concern for bleeding, and for diagnosis. Read More

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http://dx.doi.org/10.1155/2019/3476508DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6766119PMC
September 2019

Iron Pill-Induced Gastritis in the Paediatric Population.

Case Rep Pediatr 2019 11;2019:7527608. Epub 2019 Sep 11.

Department of Anatomical Pathology, PathWest Laboratory Medicine, Perth Children's Hospital, Nedlands, Australia.

Iron is the most common trace mineral in the body. The effects of iatrogenic iron pill-induced gastritis (IPIG) at therapeutic levels are underreported and underappreciated in the paediatric population. Herein, we report a case of an 11-year-old boy presenting with increasing epigastric pain and refusing oral intake secondary to iron pill tablets. Read More

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http://dx.doi.org/10.1155/2019/7527608DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6755282PMC
September 2019