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Case Reports in Pediatrics

Ahmed Abushahin, Abdulla Zarroug, Magda Wagdi, Ibrahim Janahi
Wheezing and cough are common case scenarios that pediatricians encountered in their office practices. Although a bronchogenic cyst is an uncommon condition, it is essential to be considered in the differential diagnosis of a chronic cough and wheezing among young children who fail to respond to appropriate medical treatment. A 28-month-old girl was referred to our pediatric pulmonology clinic with persistent symptoms of a cough and wheeze unresponsive to standard asthma therapy. This presentation prompted us to undertake a detailed diagnostic evaluation...
2018: Case Reports in Pediatrics
Alexander K C Leung, Benjamin Barankin, Kin Fon Leong
We report an 8-year-old boy with Netherton syndrome who was misdiagnosed and treated as severe atopic dermatitis. The diagnosis of Netherton syndrome was not made until the child was 8 years of age. We discuss the pitfalls in the diagnosis and alert physicians to the proper and early diagnosis of this syndrome. The child was treated with a low dose (0.25 mg/kg) of oral acitretin and a topical moisturizer with marked improvement of his skin and pruritus in 2 months. At 6-month follow-up, the skin was almost clear of erythema and scaling, and the hair was longer and stronger...
2018: Case Reports in Pediatrics
Gianluca Vergine, Elena Fabbri, Annalisa Pedini, Silvana Tedeschi, Niccolò Borsa
Bartter syndrome (BS) type 1 (OMIM #601678) is a hereditary salt-losing renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, polyuria, recurrent vomiting, and growth retardation. It is caused by loss-of-function mutations of the SLC12A1 gene, encoding the furosemide-sensitive Na-K-Cl cotransporter. Recently, a phenotypic variability has been observed in patients with genetically determined BS, including absence of nephrocalcinosis, hypokalemia, and/or metabolic alkalosis in the first year of life as well as persistent metabolic acidosis mimicking distal renal tubular acidosis...
2018: Case Reports in Pediatrics
Peter Chung, Hope Northrup, Misbah Azmath, Ricardo A Mosquera, Shade Moody, Aravind Yadav
Distal hereditary motor neuropathies (dHMN) are a rare heterogeneous group of inherited disorders specifically affecting the motor axons, leading to distal limb neurogenic muscular atrophy. The GARS gene has been identified as a causative gene responsible for clinical features of dHMN type V in families from different ethnic origins and backgrounds. We present the first cohort of family members of Nigerian descent with a novel heterozygous p.L272R variant on the GARS gene. We postulate that this variant is the cause of dHMN-V in this family, leading to variable phenotypical expressions that are earlier than reported in previous cases...
2018: Case Reports in Pediatrics
Rachel Levene, Elza Pollak-Christian, Ashish Garg, Michael Keenaghan
Coarctation of the aorta (CoA) is a congenital cardiac malformation that is well understood. Despite being well characterized, CoA is a commonly missed congenital heart disease (CHD) during the newborn period. We report a full-term nine-day-old male who presented to the pediatric emergency department (ED) with isolated tachypnea. After an initial sepsis workup, subsequent investigations revealed critical CoA. Because the primary workup focused on sepsis, there was a significant delay in prostaglandin E1 (PGE1 ) initiation...
2018: Case Reports in Pediatrics
Lívia Maria Pereira de Godoy, Paula Pereira de Godoy Capeletto, Maria de Fátima Guerreiro Godoy, Jose Maria Pereira de Godoy
Objective: The aim of the present study is to report on the reduction of edema of lymphedematous arms just by treating the lower limbs. Methods: A 16-year-old girl reported that she has started having right lower limb edema at the age of three. At age 13, she performed a lymphoscintigraphy that confirmed the diagnosis of primary lymphedema of the four limbs. Recently she sought treatment at the Clínica Godoy in São Jose do Rio Preto where she was submitted to intensive treatment for eight hours per day for five days using manual (Godoy & Godoy technique) and mechanical lymphatic therapy (RA Godoy® ) of the lower limbs, cervical lymphatic therapy (cervical stimulation), and the continuous use of a grosgrain stocking...
2018: Case Reports in Pediatrics
Şule Gökçe, Zafer Kurugol, Aslı Aslan, Candan Çiçek
[This corrects the article DOI: 10.1155/2017/4039358.].
2018: Case Reports in Pediatrics
K Wegleiter, M Waltner-Romen, R Trawoeger, U Kiechl-Kohlendorfer, E Griesmaier
Fetal angiotensin II receptor antagonist exposure is associated with major complications and even death when administered during pregnancy. Neonates frequently require intensive care treatment, and mortality is high. Despite this well-known risk potential, a considerable number of women still receive angiotensin II receptor antagonists during pregnancy to treat arterial hypertension. Although clinical symptoms in the neonatal period are well described, few reports address long-term follow-up after fetal exposure to angiotensin II receptor antagonists...
2018: Case Reports in Pediatrics
Marco Antonio Curiati, Sandra Obikawa Kyosen, Vanessa Gonçalves Pereira, Francy Reis da Silva Patrício, Ana Maria Martins
Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality. We present retrospective data from medical records of 5 Brazilian patients, showing the broad clinical spectrum of the disease.
2018: Case Reports in Pediatrics
Shraddha Siwakoti, Rinku Sah, Rupa Singh Rajbhandari, Basudha Khanal
Introduction: Pantoea agglomerans, primarily an environmental and agricultural organism has been reported as both commensal and pathogen of humans. We present two case reports of P. agglomerans infections in children that involved the meninges and bloodstream. Case Presentations: A 6-month-old female baby, diagnosed as congenital hydrocephalus secondary to aqueduct stenosis with ventriculoperitoneal shunt in situ, operated 14 days back was brought to the pediatric emergency with a two-day history of high fever associated with vomiting, irritability, excessive crying, and decreased feeding...
2018: Case Reports in Pediatrics
Manori Gamage, D Beneragama
Urethral caruncle (UC) is a benign fleshy outgrowth at the urethral meatus. It was first described by Samuel Sharp in 1750 and occurs mainly at the posterior lip of the urethra, and the exact aetiology is still uncertain. More often it was seen in the postmenopausal women, and only few cases are reported in young girls. Patients may be asymptomatic and could find this as an incidental finding or they may present with symptoms such as dysuria, bleeding per vagina, haematuria, a mass protruding through vagina, and acute retention of urine...
2018: Case Reports in Pediatrics
Hiroko Fukushima, Toru Nanmoku, Sho Hosaka, Yuni Yamaki, Nobutaka Kiyokawa, Takashi Fukushima, Ryo Sumazaki
The duplication of 5' segment of KMT2A is a rare molecular event in childhood leukemia, and the influence on prognosis is unknown. Here, we report on a boy who developed acute monocytic leukemia. Fluorescence in situ hybridization revealed the duplication of the 5' segment with 2 normal alleles at KMT2A which was eventually found to be fused with MLLT10 . Chemotherapy promptly induced the first complete remission in the patient at our facility, and the patient remained in first complete remission with negative minimal residual disease at 3...
2017: Case Reports in Pediatrics
Smita Roychoudhury, Sharandeep Kaur, Amuchou Singh Soraisham
Neonatal pneumopericardium (PPC) is a rare form of neonatal air leak syndrome with high morbidity and mortality. Air leak syndrome in the newborn is usually associated with active resuscitation, respiratory distress syndrome, meconium aspiration syndrome, mechanical ventilation, or trauma associated with labour. Neonatal PPC can be associated with other air leak syndromes such as pneumomediastinum, pneumothorax, pneumoperitoneum, and subcutaneous and interstitial emphysema. Spontaneous PPC is a rare event in the neonatal period...
2017: Case Reports in Pediatrics
Francis Msume Banda, Jeremy S Slone, Alan Anderson, Marisa Beretta, Priya Walabh, Jerome Loveland, Simon Nayler, Farirai Fani Takawira
Hepatic hemangiomas are considered to be the most common benign tumors of the liver. They are often found incidentally while investigating for other causes of liver disease. Hemangiomas that are less than 10 cm are not expected to cause any problems. Typically, they do not enlarge and, apart from regular follow-up, no definitive treatment is indicated. This is a posthumous case report of a male child with a medium-sized hemangioma from infancy, complicated by cryptogenic cirrhosis and hepatopulmonary syndrome...
2017: Case Reports in Pediatrics
Clara Preto, Armandina Silva, Sandra Alves, Margarida Guedes, Paula Matos, Conceição Mota, Paula Rocha, Paula C Fernandes
ANCA-positive systemic vasculitides, rare in paediatric age, present multiorganic involvement. A female teenager presented with a history of subglottic stenosis diagnosed at the age of 12. From the investigation carried out, we highlight hematoproteinuria and negative ANCAs. At 15 years old, she was admitted for gastrointestinal symptoms and respiratory distress. She presented poor peripheral perfusion, pulmonary haemorrhage, respiratory failure, and severe renal insufficiency. She was started mechanical ventilation and emergency haemodialysis...
2017: Case Reports in Pediatrics
Deepanjan Bhattacharya, Mounika Endrakanti, Rakesh Kumar
Internal jugular vein (IJV) phlebectasia is a rare condition presenting as a self-reducible soft tissue swelling of the neck due to fusiform dilation of the venous wall. We report the case of a 7-year-old boy who presented with painless soft mass in the side of the neck which appears during coughing and straining and reduces spontaneously. Diagnosis was confirmed by Doppler ultrasonography and magnetic resonance imaging of the neck. Conservative management and regular follow-up were considered. In this case report, we highlight this rare benign condition as an uncommon differential of neck swellings in order to avoid unnecessary diagnostic workup and interventions...
2017: Case Reports in Pediatrics
M C Lucchetti, C Orazi, A Lais, M L Capitanucci, P Caione, H Bakhsh
Background: Ovarian torsion (OT) is a serious condition, and delay in surgical intervention may result in loss of the ovary. Children and adolescents who have suffered from ovarian torsion may be at risk for asynchronous torsion of the contralateral ovary. Study objective: Three cases of asynchronous bilateral ovarian torsion were reported to analyse clinical history of three patients, to review the current literature, and to draw a conclusion for future treatment...
2017: Case Reports in Pediatrics
Marco Zaffanello, Francesca Darra, Tommaso Lo Barco, Francesco Sala, Emma Gasperi, Giorgio Piacentini
Introduction: The type I is the most common Chiari malformation in children. In this condition, the lower part of the cerebellum, but not the brain stem, extends into the foramen magnum at the base of the skull leading to disturbances in cerebrospinal fluid circulation and to direct compression of nervous tissue. Case report: We describe a 4-year-old Caucasian female child with febrile seizures, headache, parasomnias, and a delay of speech. The child underwent a magnetic resonance imaging to investigate these neurological signs, disclosing a Chiari malformation type 1...
2017: Case Reports in Pediatrics
Rimah Sharief, Amir Miodovnik, Roja Motaghedi
Girls with Turner syndrome (TS), especially with isochromosome 46,X,i(X)(q10), are prone to develop autoimmunity. Associations of several autoimmune conditions with TS have been frequently described in the past. However, the unique combination of TS and myasthenia gravis (MG) has been reported only once before in a girl with mosaic monosomy 45,X/46,XX. Here, we present the second case of a girl affected with seronegative MG but with mosaic isochromosome TS. This is a child with developmental delay presented with muscle weakness, frequent fall, and bilateral ptosis...
2017: Case Reports in Pediatrics
Minnie John, Aseel Al-Jadiri, Christabelle Co, Maher Abulfaraj, Lucia J Santiago
Osteomyelitis is defined as an infection of the bone, bone marrow, and the surrounding soft tissues. Most cases of acute hematogenous osteomyelitis in children are caused by Gram-positive bacteria, principally Staphylococcus aureus. We present a case where a 5-month-old male had an acute onset of decreased movement of his left leg and increased irritability and was subsequently diagnosed with rickets and hematogenous osteomyelitis with bacteremia. The case explores a possible association between hematogenous osteomyelitis and rickets...
2017: Case Reports in Pediatrics
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