scholarly journals Oral tumour in a newborn girl

2021 ◽  
Author(s):  
Rim Chaabouni ◽  
Khadija Sellami ◽  
Emna Bahloul ◽  
Hamida Turki
Keyword(s):  
Newborn Girl

Midline perineal lesion in a newborn girl

2018 ◽  
Vol 54 (7) ◽  
pp. 813-813
Author(s):  
Catarina Pereira ◽  
Manuel Salgado ◽  
Mafalda Cascais
Keyword(s):  
Newborn Girl

scholarly journals Sulco Perineal: Uma Anomalia Congénita Rara

2016 ◽  
Vol 29 (10) ◽  
pp. 670 ◽  
Author(s):  
Manuel Barbosa ◽  
Nuno Alves ◽  
Natacha Fontes
Keyword(s):  
Primary Care ◽  
Case Report ◽  
Physical Examination ◽  
Anorectal Malformation ◽  
Newborn Girl

Perineal groove is a rare congenital anorectal malformation, with incidence yet undetermined. It is almost exclusive to the female newborn and its embryogenic origin remains uncertain. We present a case-report of a newborn girl that was discharged from the nursery without complications. At her first appointment at primary care we noted a wet sulcus connecting the posterior vaginal commissure and the anus. This case report emphasizes the rarity of the perineal groove and the importance of a good quality history and physical examination at primary care.

Single kidney and ureteral atresia in a newborn girl: A treatment concept

2011 ◽  
Vol 7 (5) ◽  
pp. 576-578
Author(s):  
Sabine Zundel ◽  
Philipp Szavay ◽  
Juergen F. Schaefer ◽  
Oliver Amon ◽  
Joerg Fuchs
Keyword(s):  
Treatment Concept ◽  
Newborn Girl ◽  
Single Kidney

scholarly journals A case of Emanuel syndrome on a newborn girl with congenital heart defect

2019 ◽  
pp. 34-39
Author(s):  
В.Г. Антоненко ◽  
Д.В. Светличная ◽  
Н.В. Журкова ◽  
Н.А. Харитонова ◽  
Н.В. Шилова
Keyword(s):  
Genetic Counseling ◽  
Bowel Obstruction ◽  
Congenital Heart Defect ◽  
Congenital Heart ◽  
Clinical Implications ◽  
Heart Defect ◽  
Newborn Girl ◽  
Emanuel Syndrome

Представлен случай синдрома Эмануэль у новорожденной девочки с врожденным пороком сердца и высокой кишечной непроходимостью. Кариотип ребёнка: 47,XX,+der(22)t(11;22)(q11.2;q23). Приведен краткий обзор данных литературы о механизме возникновения перестройки, клинических проявлениях и генетическом консультировании при синдроме Эмануэль. We report on a case of Emanuel syndrome on a newborn girl with congenital heart defect and high bowel obstruction, karyotype: 47,XX,+der(22)t(11;22)(q11.2;q23)pat. The report contains brief review of information from literature about formation of such rearrangement, clinical implications, and genetic counseling for this syndrome.

A Case of Neonatal Epileptic Encephalopathy due to SCN2A Mutation Responsive to a Ketogenic Diet

2018 ◽  
Vol 07 (04) ◽  
pp. 148-151 ◽  
Author(s):  
Fahad A. Bashiri ◽  
Abrar Hudairi ◽  
Malak Al Ghamdi ◽  
Adel A. Mahmoud
Keyword(s):  
Ketogenic Diet ◽  
Treatment Modality ◽  
Genetic Diagnosis ◽  
Febrile Seizures ◽  
Epileptic Encephalopathy ◽  
Intractable Seizures ◽  
Ohtahara Syndrome ◽  
Newborn Girl ◽  
Generalized Epilepsy ◽  
Febrile Seizures Plus

AbstractNeonatal seizures may have multiple causes including metabolic and genetic etiologies. If a genetic diagnosis is known, it can guide the physician to choose the most appropriate treatment modality. SCN2A mutation is a rare cause of epileptic encephalopathy in the neonatal age group. It has a wide phenotypic variation, ranging from benign familial epilepsy to a malignant form of epilepsy. This mutation has been associated with Ohtahara syndrome, migrating focal seizures of infancy, West syndrome, Lennox–Gastaut syndrome, and generalized epilepsy with febrile seizures plus. We present the case of a newborn girl who presented with multiple types of seizures, starting at the age of 3 days. Our initial investigations were not able to identify the etiology of her intractable seizures. Whole exome sequencing confirmed an SCN2A mutation. Various antiepileptic drugs (AEDs), including phenobarbitone, phenytoin, levetiracetam, topiramate, vigabatrin, carbamazepine, clonazepam, and mexiletine, were tried. However, none provided an optimal response. She ultimately showed a dramatic response to the ketogenic diet (KD). This report highlights the effectiveness of the KD as a treatment modality for SCN2A mutation-related epileptic encephalopathy, particularly when seizures are intractable and unresponsive to conventional AEDs.

scholarly journals Ureterocele presenting as a vulval mass in a newborn girl

2010 ◽  
Vol 2010 (aug06 1) ◽  
pp. bcr0920092245-bcr0920092245 ◽  
Author(s):  
I. Abdelgadir ◽  
P. Mallya ◽  
M. Alam
Keyword(s):  
Newborn Girl

Coblation of paediatric cystic laryngeal lymphovascular malformations: a safe and effective alternative to tracheostomy

2020 ◽  
Vol 13 (9) ◽  
pp. e235596
Author(s):  
Christopher St Clair Gaston Thompson ◽  
Lucy Qian Li ◽  
Alok Sharma
Keyword(s):  
Literature Review ◽  
Work Of Breathing ◽  
Rare Condition ◽  
Emergency Team ◽  
Diagnosis And Management ◽  
Laryngeal Lesion ◽  
Paediatric Case ◽  
Newborn Girl ◽  
The Subject ◽  
Nose And Throat

We describe the case of a 12-hour-old, full-term newborn girl referred to the Ear, Nose and Throat emergency team with increased work of breathing and stridor present at birth. Flexible nasendoscopy revealed a cystic laryngeal lesion obstructing the glottis that prompted securing of the airway with intubation and transfer to a tertiary paediatric centre. On further investigation with MRI and direct visualisation, the lesion was identified as a mixed macro/microcystic laryngeal lymphovascular malformation. The patient successfully underwent a series of microlaryngo–bronchoscopy and coblations of the laryngeal lesion with the aim of avoiding a tracheostomy. We describe the presentation, diagnosis and management of this rare condition in a paediatric case, along with a literature review of the subject.

Visual Diagnosis: Newborn Girl with Congenital Unilateral Eye Opacity

2018 ◽  
Vol 39 (5) ◽  
pp. e24-e26
Author(s):  
Brandon Wang ◽  
Elizabeth Kubota ◽  
Adrian Bayona
Keyword(s):  
Newborn Girl ◽  
Visual Diagnosis
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