Cargando…

Hyponatremic Seizures and Adrenal Hypoplasia Congenita in a Neonate with Congenital Diaphragmatic Hernia

Congenital diaphragmatic hernia (CDH) in neonates may occur as an isolated finding, in association with other anomalies, or as part of a genetic syndrome. We report the first case of an infant with CDH who presented with hyponatremic seizures due to adrenal hypoplasia congenita (AHC). The patient un...

Descripción completa

Detalles Bibliográficos
Autores principales:	Verma, Sourabh, Purrier, Sheryl, Breidbart, Emily, Pappas, John G., Mally, Pradeep V., Randis, Tara M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556792/ https://www.ncbi.nlm.nih.gov/pubmed/31263616 http://dx.doi.org/10.1155/2019/4178251

Ejemplares similares

Adrenal Hypoplasia Congenita Presenting as Congenital Adrenal Hyperplasia
por: Flint, Jennifer L., et al.
Publicado: (2013)

Adrenal hypoplasia congenita in identical twins
por: Amer, Alia M. Al, et al.
Publicado: (2019)

Comment on: Adrenal hypoplasia congenita in identical twins
por: Amer, Alia M. Al, et al.
Publicado: (2020)

Adrenal Hypoplasia Congenita: A Rare Cause of Primary Adrenal Insufficiency and Hypogonadotropic Hypogonadism
por: Loureiro, Marta, et al.
Publicado: (2015)

Testicular microlithiasis in a boy with X-linked adrenal hypoplasia congenita
por: Serbis, Anastasios, et al.
Publicado: (2018)

Terlipressin-induced hyponatremic seizure in a child
por: Zaki, Syed Ahmed
Publicado: (2013)

Laparoscopic Repair of Bilateral Congenital Diaphragmatic Hernia Without Pulmonary Hypoplasia
por: Mahmood, Mehreen, et al.
Publicado: (2020)

Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita
por: Shaikh, M G, et al.
Publicado: (2008)

Pediatric Emergency Medicine Simulation Curriculum: Hyponatremic Seizures
por: Chua, Wee, et al.
Publicado: (2016)

FRI252 Novel Mutation Presenting With Hypoaldosteronism In X-Linked Adrenal Hypoplasia Congenita
por: Ismail, Esraa, et al.
Publicado: (2023)

Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita
por: Zheng, Wanqi, et al.
Publicado: (2023)

MON-076 Adrenal Hypoplasia Congenita - Is It Possible to Make This Diagnose in Previous “Idiopathic” Adrenal Insufficient Patients? Series of Cases
por: de Paula, Leila Pedroso, et al.
Publicado: (2020)

A Case of Fatal Pulmonary Hypoplasia with Congenital Diaphragmatic Hernia, Thoracic Myelomeningocele, and Thoracic Dysplasia
por: Ito, Ai, et al.
Publicado: (2017)

Identification and Functional Analysis of Six DAX1 Mutations in Patients With X-Linked Adrenal Hypoplasia Congenita
por: Suthiworachai, Chanisara, et al.
Publicado: (2018)

Delayed-onset adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by a novel mutation in DAX1
por: Liu, Siyue, et al.
Publicado: (2019)

Identification of a novel point mutation in DAX-1 gene in a patient with adrenal hypoplasia congenita
por: Choi, Han Saem, et al.
Publicado: (2021)

Congenital Diaphragmatic Hernia Repair in a Patient With Pallister-Killian Mosaic Syndrome and Left Ventricular Hypoplasia
por: Kostyk, Piotr, et al.
Publicado: (2022)

Lung hypoplasia in newborn rabbits with a diaphragmatic hernia affects pulmonary ventilation but not perfusion
por: Flemmer, Andreas W, et al.
Publicado: (2017)

Congenital diaphragmatic hernia: Misdiagnosis in adolescence
por: Kadian, Yogender Singh, et al.
Publicado: (2009)

Non-casual Association Between Congenital Pulmonary Airway Malformations/Primary Lung Hypoplasia and Congenital Diaphragmatic Hernia (CDH)
por: Pelizzo, Gloria, et al.
Publicado: (2020)

The DAX1 mutation in a patient with hypogonadotropic hypogonadism and adrenal hypoplasia congenita causes functional disruption of induction of spermatogenesis
por: Ponikwicka-Tyszko, Donata, et al.
Publicado: (2012)

Identification and Analysis of a Novel NR0B1 Mutation in Late-Onset Adrenal Hypoplasia Congenita and Hypogonadism
por: Hasegawa, Yutaka, et al.
Publicado: (2020)

Congenital Diaphragmatic Hernia
por: Tovar, Juan A
Publicado: (2012)

Congenital diaphragmatic hernia
por: Dalton, Heidi J.
Publicado: (2017)

Central precocious puberty in a patient with X-linked adrenal hypoplasia congenita and Xp21 contiguous gene deletion syndrome
por: Koh, Ji Won, et al.
Publicado: (2013)

Hernia diafragmática congénita : revisión bibliográfica /
por: López López, Rufino
Publicado: (1987)

New insights into X‐linked adrenal hypoplasia congenita from a novel splice‐site variant of NR0B1 and adrenal CT images
por: Jiang, Yuqing, et al.
Publicado: (2023)

A Case of Hernia Congenita
por: Robertson, W.
Publicado: (1803)

Exogenous pulmonary surfactant replacement therapy in a neonate with pulmonary hypoplasia accompanying congenital diaphragmatic hernia--a case report.
por: Bae, C. W., et al.
Publicado: (1996)

Hyponatremic Coma after Bowel Preparation
por: Costelha, João, et al.
Publicado: (2019)

Bilateral Congenital Diaphragmatic Hernia
por: Dhua, Anjan kumar, et al.
Publicado: (2012)

Diaphragmatic Hernia
por: Adams, Jas. A.
Publicado: (1880)

Diaphragmatic Hernia
Publicado: (1878)

Hernia diafragmática congénita : presentación de un caso clínico
por: Marín Gutiérrez, César
Publicado: (1999)

Longitudinal Evaluation of the Hypothalamic-Pituitary-Testicular Function in 8 Boys with Adrenal Hypoplasia Congenita (AHC) Due to NR0B1 Mutations
por: Galeotti, Caroline, et al.
Publicado: (2012)

The use of vaptan in hyponatremic patients with liver cirrhosis
por: Choe, Won Hyeok
Publicado: (2011)

Four Cases of Congenital Diaphragmatic Hernia
por: Hunter, Richard H.
Publicado: (1933)

Surfactant Levels in Congenital Diaphragmatic Hernia
por: Davey, Marcus
Publicado: (2007)

Congenital diaphragmatic hernia in identical twins
por: Gurbaz, Mustafa T., et al.
Publicado: (2012)

Giant congenital diaphragmatic hernia in an adult
por: Zhou, Yubin, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_o1rvqseu4qo5qi07kpa5tnk5hf