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Journal Case Rep Pediatr

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Alveolar Echinococcosis in Children.

Emilija Jonaitytė, Martynas Judickas, Eglė Tamulevičienė, Milda Šeškutė,

Alveolar echinococcosis (AE) is an infectious zoonotic disease that is caused by Echinococcus multilocularis. 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. We ... Read more >>

Case Rep Pediatr (Case reports in pediatrics)
[2020, 2020:5101234]

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

Hiromi Tobai, Jun Yano, Norio Sato, Fumitaka Amanuma, Mikio Takahashi, Mikiya Endo, Masataka Ishimura, Shouichi Ohga, Hidekazu Maruyama,

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. A 2-year-old girl with Down ... Read more >>

Case Rep Pediatr (Case reports in pediatrics)
[2020, 2020:5292947]

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

Cybil S Stingl, Colleen Jackson-Cook, Natario L Couser,

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). Abnormalities of the eye and ocular adnexa are also commonly associated findings ... Read more >>

Case Rep Pediatr (Case reports in pediatrics)
[2020, 2020:2031701]

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Symptomatic Internal Carotid Agenesis in Children.

Abdullah Alhaizaey, Ibrahim Alhelali, Musaed Alghamdi, Ahmed Azazy, Mohammed A Samir,

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 ... Read more >>

Case Rep Pediatr (Case reports in pediatrics)
[2020, 2020:3290460]

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Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5.

Shuk Ching Chong, Kam Lun Hon, Fernando Scaglia, Chung Mo Chow, Yu Ming Fu, Tor WoChiu, Alexander K C Leung,

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 ... Read more >>

Case Rep Pediatr (Case reports in pediatrics)
[2020, 2020:4206348]

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

Pamela Rodríguez, Karla Asturias,

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 ... Read more >>

Case Rep Pediatr (Case reports in pediatrics)
[2020, 2020:6482938]

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

Anna Korsgaard Eltvedt, Michael Christiansen, Anja Poulsen,

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 ... Read more >>

Case Rep Pediatr (Case reports in pediatrics)
[2020, 2020:8572596]

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

Deniz Üstüner, Fatma Asaid, Muhammad Pervaiz, Godwin Oligbu,

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, ... Read more >>

Case Rep Pediatr (Case reports in pediatrics)
[2020, 2020:1601348]

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

Hina Emanuel, Kimberly Rennie, Kelly Macdonald, Aravind Yadav, Ricardo A Mosquera,

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 ... Read more >>

Case Rep Pediatr (Case reports in pediatrics)
[2020, 2020:2713606]

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

Alexander K C Leung, Kin Fon Leong, Benjamin Barankin, Joseph M Lam,

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. ... Read more >>

Case Rep Pediatr (Case reports in pediatrics)
[2020, 2020:8267805]

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

Adeline Yi Ling Lim, Adrian Christian Mattke, Julia Elizabeth Clark, Alberto Pinzon-Charry, Nelson Alphonso, Nitin Kapur,

Pneumocystis jirovecii is recognized as an opportunistic pathogen in immunosuppressed patients. We report a case of severe Pneumocystis 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 ... Read more >>

Case Rep Pediatr (Case reports in pediatrics)
[2020, 2020:5740304]

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

Fumihiro Ochi, Hisamichi Tauchi, Toyohisa Miyata, Tomozo Moritani, Toshiyuki Chisaka, Junpei Hamada, Kozo Nagai, Minenori Eguchi-Ishimae, Mariko Eguchi,

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 ... Read more >>

Case Rep Pediatr (Case reports in pediatrics)
[2020, 2020:8304302]

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

Carmen Rodriguez Perez, Maria Grazia Romitti, Elena Pezzotti, Vito D'Andrea, Lucilla Pezza, Mauro Pittiruti,

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 ... Read more >>

Case Rep Pediatr (Case reports in pediatrics)
[2020, 2020:7480483]

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

Jun Kido, Shirou Matsumoto, Kimitoshi Nakamura,

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 ... Read more >>

Case Rep Pediatr (Case reports in pediatrics)
[2020, 2020:4709548]

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Presumptive Dipylidium caninum Infection in a Toddler.

Hannah F Chong, Roukaya Al Hammoud, Michael L Chang,

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 ... Read more >>

Case Rep Pediatr (Case reports in pediatrics)
[2020, 2020:4716124]

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The Value of Imagistics in Early Diagnosis of Tuberous Sclerosis.

Claudia Ioana Borțea, Vlad Laurentiu David, Florina Stoica, Cezara Mureșan, Marioara Boia,

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 >>

Case Rep Pediatr (Case reports in pediatrics)
[2020, 2020:1309184]

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Pediatric Collagenous Gastroenterocolitis Successfully Treated with Methotrexate.

Beate C Beinvogl, Jeffrey D Goldsmith, Ramalingam Arumugam, Michelle Kennedy, Mani Mokalla, Paul A Rufo, Menno Verhave,

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. Biopsies obtained during subsequent endoscopic and colonoscopic studies revealed findings consistent ... Read more >>

Case Rep Pediatr (Case reports in pediatrics)
[2020, 2020:1929581]

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Bone Infarct as an Indicator of Acute Spinal Ischaemia.

Laura López-Viñas, Kary Leonisa Quiñones-Coneo, Raquel Buenache-Espartosa, Juan Salvador Martínez-San-Millán, Gustavo Lorenzo-Sanz,

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. Laboratory tests ... Read more >>

Case Rep Pediatr (Case reports in pediatrics)
[2020, 2020:9703625]

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

Leah S Heidenreich, Jennifer L Oliveira, Peter J Holmberg, Vilmarie Rodriguez,

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 ... Read more >>

Case Rep Pediatr (Case reports in pediatrics)
[2020, 2020:2853531]

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

Kate Wilson, Lindsay Ellsworth, Megan H Pesch,

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 ... Read more >>

Case Rep Pediatr (Case reports in pediatrics)
[2020, 2020:2534629]

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

Filomena Valentina Paradiso, Laura Merli, Sara Silvaroli, Vincenzo Fiorentino, Riccardo Ricci, Lorenzo Nanni,

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. Abdominal ultrasound revealed a target sign in the right upper ... Read more >>

Case Rep Pediatr (Case reports in pediatrics)
[2020, 2020:6898795]

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Hepatic Failure following Metronidazole in Children with Cockayne Syndrome.

Pedram Ataee, Avat Karimi, Kambiz Eftekhari,

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. He had been treated with ... Read more >>

Case Rep Pediatr (Case reports in pediatrics)
[2020, 2020:9634196]

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Clinical and Biochemical Features in a Case of Familial Hypocalciuric Hypercalcemia Type 3 with AP2S1 Gene Mutation in Codon Arg15His.

Mohamed Aashiq, Asma Jassim Malallah, Farheen Khan, Maryam Alsada,

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 AP2S1 (adaptor-related protein complex 2 subunit sigma 1) involving the codon Arg15 (p.R15). We report a case of FHH-3 with a ... Read more >>

Case Rep Pediatr (Case reports in pediatrics)
[2020, 2020:7312894]

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

Alexander K C Leung, Kin Fon Leong, Benjamin Barankin,

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. Because of ... Read more >>

Case Rep Pediatr (Case reports in pediatrics)
[2020, 2020:1494760]

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

Osama Hamdoun, Asia Al Mulla, Shamma Al Zaabi, Hiba Shendi, Sharifa Al Ghamdi, Jozef Hertecant, Amar Al-Shibli,

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 ... Read more >>

Case Rep Pediatr (Case reports in pediatrics)
[2020, 2020:3460631]

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