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

2019 ◽  
Vol 2019 ◽  
pp. 1-4
Author(s):  
Sourabh Verma ◽  
Sheryl Purrier ◽  
Emily Breidbart ◽  
John G. Pappas ◽  
Pradeep V. Mally ◽  
...  
Keyword(s):  
Congenital Diaphragmatic Hernia ◽  
Adrenal Insufficiency ◽  
Diaphragmatic Hernia ◽  
Neonatal Seizure ◽  
Postoperative Phase ◽  
Severe Hyponatremia ◽  
Genetic Syndrome ◽  
Adrenal Hypoplasia Congenita ◽  
First Case ◽  
Adrenal Hypoplasia

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 underwent repair of CDH defect. After an uncomplicated postoperative course while on discharge planning, he developed a seizure episode associated with severe hyponatremia and hyperkalemia. Extensive diagnostic workup revealed an NR0B1 gene variant confirming the diagnosis of X-linked AHC. The patient was eventually discharged home on hydrocortisone, fludrocortisone, and salt supplements. There are a few case reports of adrenal insufficiency in neonates with CDH, manifesting with symptoms before and immediately after reparative surgery. Clinical presentation of our patient was unique in manifesting as neonatal seizure secondary to severe hyponatremia after a stable postoperative phase. The patient’s electrolytes and hemodynamic status remained stable before, during, and after surgery for CDH. This case underlines the importance of taking detailed family history and continued vigilance for signs and symptoms of adrenal insufficiency in infants with repaired CDH by pediatricians and intensivists.

scholarly journals A Triad of Congenital Diaphragmatic Hernia, Meckel’s Diverticulum, and Heterotopic Pancreas

2014 ◽  
Vol 2014 ◽  
pp. 1-3
Author(s):  
Parkash Mandhan ◽  
Amer Al Saied ◽  
Mansour J. Ali
Keyword(s):  
Case Report ◽  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Chromosomal Abnormalities ◽  
Meckel’S Diverticulum ◽  
Pancreatic Tissue ◽  
Meckel's Diverticulum ◽  
Developmental Anomaly ◽  
Heterotopic Pancreatic Tissue ◽  
First Case

Congenital diaphragmatic hernia is a common developmental anomaly encountered by paediatric surgeons. It is known to be associated with extradiaphragmatic malformations, which include cardiac, renal, genital, and chromosomal abnormalities. Herein, we report a newborn born with concurrent congenital diaphragmatic hernia, Meckel’s diverticulum, and heterotopic pancreatic tissue. This is the first case report of such a triad with description of possible mechanisms of the development.

Adrenal hypoplasia congenita – an uncommon reason of primary adrenal insufficiency

2010 ◽  
Vol 71 (4) ◽  
pp. 309-313 ◽  
Author(s):  
M. Fichna ◽  
M. Żurawek ◽  
P. Gut ◽  
J. Sowiński ◽  
J. Nowak
Keyword(s):  
Adrenal Insufficiency ◽  
Primary Adrenal Insufficiency ◽  
Adrenal Hypoplasia Congenita ◽  
Adrenal Hypoplasia

scholarly journals Adrenal Insufficiency in Newborns with Congenital Diaphragmatic Hernia

2010 ◽  
Vol 156 (3) ◽  
pp. 495-497.e1 ◽  
Author(s):  
Beena D. Kamath ◽  
Lucy Fashaw ◽  
John P. Kinsella
Keyword(s):  
Congenital Diaphragmatic Hernia ◽  
Adrenal Insufficiency ◽  
Diaphragmatic Hernia

scholarly journals Identification and Analysis of a Novel NR0B1 Mutation in Late-Onset Adrenal Hypoplasia Congenita and Hypogonadism

2020 ◽  
Vol 5 (2) ◽  
Author(s):  
Yutaka Hasegawa ◽  
Yoshihiko Takahashi ◽  
Yuichiro Kezuka ◽  
Wataru Obara ◽  
Yoichiro Kato ◽  
...  
Keyword(s):  
Adrenal Insufficiency ◽  
Missense Mutation ◽  
Target Genes ◽  
Late Onset ◽  
Hypogonadotropic Hypogonadism ◽  
Skin Pigmentation ◽  
Hydrophobic Core ◽  
Testicular Microlithiasis ◽  
Adrenal Hypoplasia Congenita ◽  
Adrenal Hypoplasia

Abstract Objective X-linked adrenal hypoplasia congenita (AHC) is a rare disorder characterized by primary adrenal insufficiency and hypogonadotropic hypogonadism (HHG) caused by mutations of the NR0B1/DAX1 gene. We aimed to search for the presence of any NR0B1/DAX1 gene mutations in a referred patient and to further characterize the phenotypes of the identified mutation. Case Presentation Herein, we report a Japanese patient with a novel missense mutation of the NR0B1/DAX1 gene resulting in adult-onset AHC and HHG. The patient was referred with diffuse skin pigmentation at 28 years of age, presented partial adrenal insufficiency and had undiagnosed incomplete HHG. Urological examination revealed severe oligospermia and testicular microlithiasis. Results The NR0B1/DAX1 gene mutation was identified by exome sequencing as a novel missense mutation (c.884A>T, p.Leu295His). We conducted in silico modeling of this mutant NR0B1/DAX1 protein (p.Leu295His) which affected the conserved hydrophobic core of the putative ligand-binding domain (LBD). In addition, functional analysis revealed that this mutant showed a decreased ability as a transcriptional repressor to suppress target genes, such as STAR and LHB. Furthermore, this mutant showed functionally impaired repression of steroidogenesis in human adrenocortical H295R cells. Conclusions We identified a novel missense mutation of the NR0B1/DAX1 gene in a patient suffering from late-onset AHC and HHG, who presented with oligospermia and testicular microlithiasis. This mutant NR0B1/DAX1 protein was found to have reduced repressor activity, according to in vitro studies, clinically consistent with the patient’s phenotypic features.

scholarly journals A Rare Finding: Right-Sided Congenital Diaphragmatic Hernia With an Intrathoracic Kidney

2019 ◽  
Vol 35 (3) ◽  
pp. 241-246
Author(s):  
Emma Thompson ◽  
Layla Q. Simmons ◽  
Anthony L. Baker
Keyword(s):  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Chromosomal Abnormality ◽  
Cardiac Involvement ◽  
Fetal Echocardiography ◽  
Genetic Disorder ◽  
Genetic Syndrome ◽  
Postnatal Treatment ◽  
Intrathoracic Kidney ◽  
Magnetic Resonance Imaging Mri

Congenital diaphragmatic hernia (CDH) is an opening in the diaphragm in which the abdominal viscera protrudes into the chest as the result of an embryologic defect. CDH can be an isolated anomaly or occur simultaneously with a chromosomal abnormality or genetic syndrome. Prognosis for fetuses with CDH is widely variable and depends on numerous factors including premature birth, the presence of a chromosomal abnormality or genetic disorder, location of the herniation, lung volume, and cardiac involvement. This study presents details of a case of right-sided CDH with an intrathoracic kidney detected sonographically. Fetal echocardiography and magnetic resonance imaging (MRI) were used to further characterize the herniation. Both sonography and MRI aided in accurate diagnosis and postnatal treatment planning.

scholarly journals Low estriol levels in the maternal marker screen as a predictor of X-linked adrenal hypoplasia congenita: Case report

2014 ◽  
Vol 142 (11-12) ◽  
pp. 728-731 ◽  
Author(s):  
Jasmina Durkovic ◽  
Tatjana Milenkovic ◽  
Nils Krone ◽  
Silvia Parajes ◽  
Bojana Mandic
Keyword(s):  
Adrenal Insufficiency ◽  
Failure To Thrive ◽  
Severe Hypoglycemia ◽  
Maternal Serum ◽  
Second Trimester ◽  
Adrenal Hypoplasia Congenita ◽  
Postnatal Diagnosis ◽  
Cheap Method ◽  
Adrenal Hypoplasia

Introduction. X-linked adrenal hypoplasia congenita (AHC) is a rare cause of adrenocortical insufficiency. Early postnatal diagnosis may prevent severe hypoglycemia, Addisonian crises and death. Low maternal estriol (E3) levels in the second trimester of pregnancy could indicate the possibility that the fetus suffers from a disorder that causes adrenal insufficiency. Suspicion is based on the fact that E3 originates from dehydroepiandrosterone (DHEA) synthesized in the fetal adrenals. In case of adrenal insufficiency, the impaired production of fetal DHEA leads to a subsequent reduction of E3 concentrations in maternal serum. There are only a few reports of AHC suspected prenatally due to low maternal E3 levels. Case Outline. We describe two brothers with adrenal insufficiency due to AHC. The older brother was admitted to the hospital at the age of 33 days due to failure to thrive, vomiting, and dehydration. Genetic analysis revealed a hemizygous mutation in DAX-1 gene, thus confirming the diagnosis of ACH. The same mutation was detected in his mother. In the second pregnancy, E3 concentrations were determined from maternal serum. Estriol levels during the second trimester were extremely low suggesting the diagnosis of AHC. The diagnosis was confirmed during the neonatal period by genetic testing, and replacement therapy was started at the age of 10 days. This boy never experienced an adverse episode such as hypoglycemia or adrenal crises. Conclusion. Since determination of E3 is a simple, sensitive, noninvasive and cheap method, its use as an obligatory prenatal screening test should be accepted as a standard practice in Serbia.

scholarly journals Intra pericardial herniation in congenital diaphragmatic hernia

2020 ◽  
Vol 10 (4) ◽  
pp. 118-120
Author(s):  
Mohamed H Koura ◽  
Hamid Qoura ◽  
Madhavan Nayar ◽  
Mohammed J Al Sajwani
Keyword(s):  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
English Language ◽  
Correct Diagnosis ◽  
Good Condition ◽  
Rare Condition ◽  
Postnatal Period ◽  
First Case ◽  
Chest X Ray ◽  
Intrapericardial Diaphragmatic Hernia

Intrapericardial diaphragmatic hernia is a rare condition with only few cases reported in the English language literature.1 During a span of eight months in 2010-2011 we treated two cases of congenital intra pericardial diaphragmatic hernia in Royal Hospital in the Sultanate of Oman. The first case was not diagnosed antenatally as diaphragmatic hernia. Post-natally the neonate was diagnosed as having pericardial effusion and correct diagnosis arrived at by CTs can. The second case was diagnosed by antenatal scan as diaphragmatic hernia and confirmed in postnatal period by chest X-Ray as left congenital diaphragmatic hernia but intra-operative finding was an anterior diaphragmatic hernia with intra pericardial herniation of the liver and part of the bowel into the pericardial sac. Both neonates were intubated after birth due to respiratory distress. A polytetrafluoroethylene (PTFE) patch was used for repair of the defect in first case and the second case was repaired without a patch. In both cases, apart from the defect, the rest of the diaphragm, on either side, was intact; sac was absent and a pericardial defect was present. Both neonates were discharged in good condition.

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