scholarly journals Pseudohypoaldosteronism in a Neonate Presenting as Life-Threatening Hyperkalemia

2016 ◽  
Vol 2016 ◽  
pp. 1-3 ◽  
Author(s):  
Najya A. Attia ◽  
Yousef I. Marzouk
Keyword(s):  
Cardiac Arrest ◽  
Hormone Replacement ◽  
Hypovolemic Shock ◽  
Delayed Diagnosis ◽  
Plasma Renin ◽  
Adrenal Crisis ◽  
Sudden Infant ◽  
High Potassium ◽  
Life Threatening

Context. Pseudohypoaldosteronism type 1 (PHA1) is a life-threatening disease that causes severe hyperkalemia and cardiac arrest if not treated appropriately or if diagnosis is missed.Objective.To report a case of a newborn with vomiting and lethargy, ultimately diagnosed with pseudohypoaldosteronism.Patient.This case presented to the ED at an age of 14 days in hypovolemic shock. There was a family history of sudden infant death, her sister who was diagnosed with CAH and passed away at 3 months of age despite regular hormone replacement. Our patient had cardiac arrest in ED, due to hyperkalemia; while receiving fluid boluses, cardiopulmonary resuscitation was initiated. After stabilization, diagnostic workup demonstrated persistently low sodium, acidosis, and high potassium, which required peritoneal dialysis. Based on these findings, the patient was diagnosed with CAH. It turned out later that the patient had PHA1. Two years later, the patient had a new sibling with the same disease diagnosed at birth and started immediately on treatment without any complication.Conclusions and Outcome.This case highlights the significant diagnostic and therapeutic challenges in treating children with PHA1. Adrenal crisis is not always CAH; delayed diagnosis can lead to complication and even death. The presence of high plasma renin activity, aldosterone, and cortisol, along with the presence of hyponatremia and hyperkalemia, established the diagnosis of PHA type 1 and ruled out CAH.

School Nurses on the Front Lines of Healthcare: Emergencies Associated With Sport and Physical Activities (Part 2): Sudden Cardiac Arrest, Hypovolemic Shock, and Spinal Cord Injury

2021 ◽  
pp. 1942602X2110460
Author(s):  
Thomas P. Swaffield ◽  
Robert P. Olympia
Keyword(s):  
Physical Activity ◽  
Spinal Cord ◽  
Spinal Cord Injury ◽  
Cardiac Arrest ◽  
Sudden Cardiac Arrest ◽  
Hypovolemic Shock ◽  
The United States ◽  
Physical Activities ◽  
Cord Injury ◽  
Life Threatening

Sport participation is an important part of the development, both physically and mentally, of children and adolescents in the United States. Illness and injury associated with sport and physical activities may occur in the school setting. Although most sport-related illness and injury in students are considered minor emergencies, life-threatening illnesses or injuries may occur. It is important for the school nurse to recognize potential life-threatening emergencies associated with sport and physical activity, to initiate stabilization of the student with life-threatening symptoms, and to triage these students to an appropriate level of care (back to the classroom, home with their guardian with follow up at their primary healthcare provider’s office, or directly to the closest emergency department via Emergency Medical Services). This article specifically describes the initial assessment and management of three potentially life-threatening conditions associated with sport and physical activity, namely sudden cardiac arrest, hypovolemic shock, and spinal cord injury.

scholarly journals Pericardial Effusion as an Initial Presentation of Panhypopituitarism

2020 ◽  
Author(s):  
Rosa Alves ◽  
Sofia Alegria ◽  
Henrique Vara Luiz ◽  
Tiago Judas
Keyword(s):  
Pericardial Effusion ◽  
Incidental Finding ◽  
Hormone Replacement ◽  
Pericardial Tamponade ◽  
Adrenal Crisis ◽  
Secondary Hypothyroidism ◽  
Rare Manifestation ◽  
Initial Work ◽  
Life Threatening ◽  
Work Up

Pericardial effusion has a broad spectrum of clinical presentation, ranging from an incidental finding on imaging to a potentially fatal emergency such as pericardial tamponade, the most severe presentation. The authors present a case of a middle-aged male hospitalized due to shortness of breath. Initial work-up was positive for massive pericardial effusion with haemodynamic compromise. Additional study revealed panhypopituitarism. The acromegalic phenotype was suggestive of acromegaly secondary to pituitary adenoma, which had probably evolved to apoplexy. Hormone replacement was started with clinical improvement. At the 3-year follow-up, there was no evidence of recurrence of pericardial effusion. Panhypopituitarism is a relatively rare entity, but can lead to life-threatening complications such as adrenal crisis, coma and myxoedema-associated cardiac failure. Pericardial effusion is an extremely rare manifestation of secondary hypothyroidism.

scholarly journals Emergence of Autoimmune Type 1 Diabetes and Acute Adrenal Crisis Following COVID-19

2021 ◽  
Author(s):  
Seda Hanife Oğuz ◽  
Alper Gürlek
Keyword(s):  
Type 1 Diabetes ◽  
Autoimmune Thyroiditis ◽  
Case Reports ◽  
Hormone Replacement ◽  
Autoimmune Disorders ◽  
Primary Hypothyroidism ◽  
Adrenal Crisis ◽  
Acth Stimulation ◽  
New Onset

Abstract Objective: Several case reports have indicated a possible link between Coronavirus Disease 2019 (COVID-19) and new-onset autoimmune disorders while co-precipitation of autoimmune type 1 diabetes and Addison’s disease has never been reported to date. Case Description: A 60-year-old male presented with extreme fatigue and weight loss three weeks after testing positive for COVID-19. The course of COVID-19 was mild, without pulmonary involvement. The patient showed symptoms and laboratory signs of new-onset diabetes without ketoacidosis and acute primary adrenal insufficiency, latter of which was confirmed with an ACTH stimulation test. GAD-65 antibody and antibodies to the adrenal cortex were positive in high titers, and the patient also had primary hypothyroidism associated with autoimmune thyroiditis. Previous medical records of the patient revealed no hyperglycemia or electrolyte abnormalities prior to current admission, but an earlier test result compatible with primary hypothyroidism. The patient was diagnosed with autoimmune polyglandular syndrome type II (APS II). Clinical and laboratory findings improved after starting appropriate hormone replacement therapies along with insulin. Conclusions: Evidence mostly obtained from case reports suggests that COVID-19 may induce a variety of autoimmune disorders in susceptible subjects. In our case, COVID-19 might have simply precipitated T1D and adrenal crisis in whom autoimmune thyroiditis may have been the first manifestation of an undiagnosed APS II. Or, COVID-19 may have triggered autoimmunity in the patient who was possibly predisposed to autoimmune disorders, and led to the development of APS II. Anyhow, more research is required to evaluate the possible link between COVID-19 and autoimmune disorders.

scholarly journals Autoimmune polyendocrine syndrome type II: After adrenal crisis

2020 ◽  
Vol 7 (2) ◽  
pp. 3
Author(s):  
Nuno Zarcos Palma ◽  
Mariana Da Cruz ◽  
Lígia Rodrigues Dos Santos ◽  
Margarida Cruz ◽  
Filipe Cunha ◽  
...  
Keyword(s):  
Adrenal Crisis ◽  
Intravenous Fluids ◽  
Type Ii ◽  
Thyroid Autoimmune Disease ◽  
Autoimmune Polyendocrine Syndrome ◽  
Threatening Condition ◽  
Organ Specific ◽  
Life Threatening ◽  
Specific Disorders

Autoimmune Polyendocrine Syndromes (APS) are rare autoimmune endocrinopathies, characterized by the association of two or more organ-specific disorders. Type II Autoimmune Polyendocrine Syndromes (APS II) comprises the association of Addison’s disease with thyroid autoimmune disease and/or type 1 diabetes mellitus. Although the classic presentation is symptomatic hypotension, it can manifest as an adrenal crisis - a life-threatening condition. We report a case of a 41-year-old woman with prolonged asthenia, cutaneous hyperpigmentation and symptomatic hypotension refractory to intravenous fluids. APS II was diagnosed with a presentation of an Addisonian crisis, resolved after the onset of hydrocortisone.

Delayed diagnosis of proopiomelanocortin (POMC) deficiency with type 1 diabetes in a 9-year-old girl and her infant sibling

2017 ◽  
Vol 30 (10) ◽  
Author(s):  
Elif Ozsu ◽  
Allison Bahm
Keyword(s):  
Type 1 Diabetes ◽  
Delayed Diagnosis ◽  
Poor Response ◽  
Tall Stature ◽  
Biallelic Mutation ◽  
Acth Stimulation ◽  
Laboratory Assessment ◽  
Life Threatening ◽  
Low Cortisol

AbstractBackground:Proopiomelanocortin (POMC) protein, encoded by theCase presentation:A 9-year-old girl from a consanguineous family of Iraqi origin was diagnosed with type 1 diabetes. She also had a tall stature. Her laboratory assessment showed low cortisol and ACTH concentrations, normal renin and poor response to ACTH stimulation. Genetic testing revealed a novel biallelic mutation in theConclusions:POMC deficiency results in significant morbidity due to obesity, and it is also a potentially life threatening disease because of adrenal insufficiency. Therefore any suggestive symptom or sign of POMC deficiency warrants detailed investigations.

scholarly journals A 45-year-old female patient with Sheehan’s syndrome presenting with imminent adrenal crisis: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Abere Genetu ◽  
Yibeltal Anemen ◽  
Sinshaw Abay ◽  
Simachew Anemen Bante ◽  
Kebadnew Mulatu Mihrete
Keyword(s):  
Case Reports ◽  
Rare Complication ◽  
Hormone Replacement ◽  
Delayed Diagnosis ◽  
Obstetric Care ◽  
Adrenal Crisis ◽  
Sheehan’S Syndrome ◽  
Delay In Diagnosis ◽  
Sheehan's Syndrome

Abstract Background Sheehan's syndrome is hypopituitarism due to pituitary gland necrosis resulting from hemorrhagic shock during pregnancy. It is a rare complication with varied manifestations and a considerable delay in diagnosis. Case presentation We describe the case of a 45-year-old Ethiopian woman who presented with generalized fatigue for 18 years which progressed to anorexia, nausea, vomiting, diarrhea, and abdominal pain of 6 years' duration, for which she was treated symptomatically throughout these years. Complete clinical evaluation, endocrine studies, and pituitary magnetic resonance scan revealed hypopituitarism secondary to Sheehan’s syndrome. She had significant improvement noted following the commencement of hormone replacement therapy. Conclusion Previous case reports describe patients being diagnosed after one or more complications from long-term panhypopituitarism. The present case illustrates that undiagnosed Sheehan's syndrome is associated with long-term morbidity, and we want to emphasize that a high index of suspicion is crucial for the early diagnosis of the syndrome in routine clinical visits in order to prevent complications arising with delayed diagnosis. Awareness among clinicians is also essential so that such cases are not overlooked, especially in developing nations, where home delivery is still common and obstetric care is limited.

scholarly journals Congenital Craniofacial Plexiform Neurofibroma in Neurofibromatosis Type 1

Diagnostics ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 218
Author(s):  
Antonella Cacchione ◽  
Alessia Carboni ◽  
Mariachiara Lodi ◽  
Rita De Vito ◽  
Andrea Carai ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Correct Diagnosis ◽  
Plexiform Neurofibroma ◽  
Neurofibromatosis Type ◽  
Detection Techniques ◽  
Life Threatening ◽  
Magnetic Resonance Imaging Mri ◽  
Diagnostic Work ◽  
Radiological Methods

We present a case demonstrating the performance of different radiographical imaging modalities in the diagnostic work-up of a patient with neurofibromatosis type 1 (NF1) and plexiform neurofibroma (PN). The newborn boy showed an expansive-infiltrative cervical and facial mass presented with macrocrania, craniofacial disfigurement, exophthalmos and glaucoma. A computer tomography (CT) and a magnetic resonance imaging (MRI) were performed. The CT was fundamental to evaluate the bone dysmorphisms and the MRI was crucial to estimate the mass extension. The biopsy of the lesion confirmed the suspicion of PN, thus allowing the diagnosis of NF1. PN is a variant of neurofibromas, a peripheral nerves sheath tumor typically associated with NF1. Even through currently available improved detection techniques, NF1 diagnosis at birth remains a challenge due to a lack of pathognomonic signs; therefore congenital PN are recognized in 20% of cases. This case highlights the importance of using different radiological methods both for the correct diagnosis and the follow-up of the patient with PN. Thanks to MRI evaluation, it was possible to identify earlier the progressive increasing size of the PN and the possible life threatening evolution in order to perform a tracheostomy to avoid airways compression.

scholarly journals Immune checkpoint inhibitor combination therapies very frequently induce secondary adrenal insufficiency

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Katsunori Manaka ◽  
Junichiro Sato ◽  
Maki Takeuchi ◽  
Kousuke Watanabe ◽  
Hidenori Kage ◽  
...  
Keyword(s):  
Combination Therapy ◽  
Adrenal Insufficiency ◽  
Cancer Patients ◽  
Immune Checkpoint ◽  
Checkpoint Inhibitors ◽  
Delayed Diagnosis ◽  
Secondary Adrenal Insufficiency ◽  
Acth Deficiency ◽  
Life Threatening ◽  
Inhibitor Combination

AbstractImmune checkpoint inhibitors (ICIs) are potent therapeutic options for many types of advanced cancer. The expansion of ICIs use however has led to an increase in immune-related adverse events (irAEs). Secondary adrenal insufficiency (AI) can be life-threatening especially in patients with delayed diagnosis. We retrospectively investigated secondary AI in ICI-treated patients. A total of 373 cancer patients treated with ICIs were included and evaluated. An adrenocorticotropic hormone (ACTH) deficiency was described in 13 patients. Among 24 patients with a combination of nivolumab and ipilimumab therapy, 7 patients (29%) developed secondary AI in a median time of 8 weeks during the combination therapy and 2 of 15 patients (13%) developed isolated ACTH deficiency during maintenance nivolumab monotherapy following the combination therapy. More than half of the patients (4/7) with a combination therapy-induced multiple anterior hormone deficiencies was diagnosed as secondary AI based on regular ACTH and cortisol tests with slight subjective symptoms. Secondary AI can arise frequently and rapidly in cancer patients receiving a combination ICI therapy, and thus we speculate active surveillance of AI using regular ACTH and cortisol tests during the combination therapy might be useful for avoiding life-threatening conditions due to secondary AI.

scholarly journals EXPRESS: Pulmonary Hypertension Associated With Neurofibromatosis Type 2

2021 ◽  
pp. 204589402110295
Author(s):  
Hirohisa Taniguchi ◽  
Tomoya Takashima ◽  
Ly Tu ◽  
Raphaël Thuillet ◽  
Asuka Furukawa ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Neurofibromatosis Type ◽  
Pulmonary Vascular Remodeling ◽  
Life Threatening ◽  
History Of ◽  
Pulmonary Arterial ◽  
First Time

Although precapillary pulmonary hypertension (PH) is a rare but severe complication of patients with neurofibromatosis type 1 (NF1), its association with NF2 remains unknown. Herein, we report a case of a 44-year-old woman who was initially diagnosed with idiopathic pulmonary arterial hypertension (IPAH) and treated with PAH-specific combination therapy. However, a careful assessment for a relevant family history of the disease and genetic testing reveal that this patient had a mutation in the NF2 gene. Using immunofluorescence and Western blotting, we demonstrated a decrease in endothelial NF2 protein in lungs from IPAH patients compared to control lungs, suggesting a potential role of NF2 in PAH development. To our knowledge, this is the first time that precapillary PH has been described in a patient with NF2. The altered endothelial NF2 expression pattern in PAH lungs should stimulate work to better understand how NF2 is contributing to the pulmonary vascular remodeling associated to these severe life-threatening conditions.

scholarly journals Low rate of life‐threatening events and limitations in predicting invasive and noninvasive markers of symptoms in a cohort of type 1 Brugada syndrome patients: Data and insights from the GenBra registry

2020 ◽  
Vol 31 (11) ◽  
pp. 2920-2928 ◽  
Author(s):  
Luciana Sacilotto ◽  
Mauricio I. Scanavacca ◽  
Natália Olivetti ◽  
Carolina Lemes ◽  
Gabrielle D. Pessente ◽  
...  
Keyword(s):  
Brugada Syndrome ◽  
Life Threatening ◽  
Noninvasive Markers ◽  
Low Rate
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