Anesthesia in a  child with suspected peroxisomal disorder.

We present the case of an 8‑year-old female child with suspected peroxisomal disorder requiring general anesthesia for adenotomy, paracentesis and brainstem-evoked response audiometry. Peroxisomes are small intracellular organelles that catalyse key metabolic reactions. Peroxisomal disorders are a heterogeneous group of rare genetic diseases. Anesthesia can be challenging as adrenal insufficiency, mental retardation, muscle weakness, risk of pulmonary aspiration, airway complications, seizure disorders and altered pharmacokinetics and pharmacodynamics can occur in these patients but guidelines for anesthesia do not exist due to the heterogeneity and rarity of these diseases and case reports are rare. Anesthesia was induced by sevoflurane via a face mask, followed by remifentanil and rocuronium for oral intubation after intravenous access was obtained. Anesthesia was maintained with sevoflurane and remifentanil. Dexamethasone was given for prophylaxis of postoperative nausea and vomiting as well as perioperative adrenal crises. Piritramide was given for postoperative analgesia. With this approach anesthesia was uneventful. The trachea was extubated with the patient awake and she was taken to the recovery room in a stable condition. The classification and breadth of clinical manifestations of peroxisomal disorders is complex and briefly summarized. Anesthesiologists should consider characteristics of their particular patient's form of peroxisomal disorder, as this may gr...
Source: Der Anaesthesist - Category: Anesthesiology Authors: Tags: Anaesthesist Source Type: research

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Authors: Matsubayashi S, Nakatake N, Hara T Abstract Fatigue is a common symptom in patients visiting the clinic of psychosomatic medicine. A 250-μg synthetic ACTH (1-24) test (rapid ACTH test) and Beck depression inventory (BDI) were performed for 62 patients presenting with fatigue who visited the Department of Psychosomatic Medicine at Fukuoka Tokushukai Hospital. Patients were divided into 3 groups according to the serum cortisol response to the rapid ACTH test; those with a peak serum cortisol level of
Source: Endocrine Journal - Category: Endocrinology Tags: Endocr J Source Type: research
Vitamin B12 deficiency has a storied history including 2 Nobel Prizes, beginning with the discovery of an anemia by the English physician and scientist Thomas Addison in the 1840s. In the preface to his treatise on adrenal insufficiency (Addison disease), he described a  single case of what was termed “Addisonian anemia.”1 German physician Michael Biermer working in Zurich, more convincingly described what he termed “progressive pernicious anemia” in the 1870s, reporting 15 cases in great detail.
Source: The Journal of Pediatrics - Category: Pediatrics Authors: Tags: Editorials Source Type: research
Conclusion: Sequence variant of the NR5A1 gene is a possibility that must be considered when a woman with POI or a diminished ovarian reserve has a family member or child with DGD. If a variation is identified genetic counseling is essential for the patient and his/her family.
Source: Reproductive BioMedicine Online - Category: Reproduction Medicine Source Type: research
Conclusions: All phenotypes of X-linked adrenoleukodystrophy, except for myelopathy in women, were presented in the studied population, which mainly consisted of children and adolescents. Prevalent signs and symptoms registered in the literature were observed. Most of the patients with cerebral demyelinating inflammatory adrenoleukodystrophy were not diagnosed in time for hematopoietic stem cell transplantation.RESUMO Objetivo: Descrever pacientes com diferentes formas de adrenoleucodistrofia ligada ao X: pr é-sintomática, adrenoleucodistrofia inflamatória desmielinizante cerebral, adrenomieloneuropati...
Source: Revista Paulista de Pediatria - Category: Pediatrics Source Type: research
Abstract Immune checkpoint inhibitors have proven to be effective for various advanced neoplasia. Immune-related adverse events (irAEs) as a result of increased T cell activation are unique and potentially life-threating toxicities associated with the use of immune checkpoint inhibitors. Multiple endocrine irAEs, including primary hyperthyroidism and hypothyroidism, thyroiditis, primary adrenal insufficiency, type 1 diabetes mellitus, and hypophysitis, have been reported with the use of various immune checkpoint inhibitors. In some cases, these irAEs can lead to discontinuation of treatment. Here we propose for th...
Source: The Oncologist - Category: Cancer & Oncology Authors: Tags: Oncologist Source Type: research
In this study, we report an Iranian patient who presented with Addison disease, chronic mucocutaneous candidiasis, alopecia totalis, keratopathy and asplenia treated as an isolated endocrinopathy for 25 years. In the adulthood, the diagnosis of APECED was made by genetic analysis which demonstrated homozygous nonsense p.R257* (c.769C>T) mutation of AIRE. APECED has been shown to be frequent in some ethnicities including Iranian Jews. Therefore, we reviewed 39 Iranian APECED patients published in the literature. We found that most of the Iranian patients were of Jewish ethnic background and presented hypoparathyroidism, ...
Source: Immunological Investigations - Category: Allergy & Immunology Tags: Immunol Invest Source Type: research
Haak Insight into the health-related quality of life (HRQoL) impact of adrenocortical carcinoma (ACC) is important. The disease and its treatment options potentially have an impact on HRQoL. For patients with limited survival, HRQoL research is of utmost importance. We will therefore provide an overview of HRQoL studies in patients with ACC. We found six studies that measured HRQoL in 323 patients with ACC (3 cross-sectional, 1 cohort, 2 trials), all indicating a reduced HRQoL compared to the general population. The FIRMACT trial found that HRQoL of patients with ACC was reduced compared to the general population, and...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Review Source Type: research
We report two cases to emphasize the importance of establishing a prompt diagnosis of CAH in male neonates, presenting with a clinical picture initially suggestive of neonatal sepsis. Inadequate response owing to delayed diagnosis in these cases may result in rapid deterioration and increased morbidity and mortality. PMID: 31584344 [PubMed - as supplied by publisher]
Source: Tropical Doctor - Category: Tropical Medicine Authors: Tags: Trop Doct Source Type: research
Relative adrenal insufficiency (RAI) is defined by insufficient production of cortisol relative to organ demand. RAI is frequently observed in hospitalized patients with cirrhosis, but there is disagreement over the clinical effects of RAI in these patients. We evaluated the prevalence and the clinical effects of RAI in hospitalized patients with cirrhosis.
Source: Clinical Gastroenterology and Hepatology - Category: Gastroenterology Authors: Source Type: research
Authors: Aljabri KS, Bokhari SA, Assiri FA, Alshareef MA, Khan PM Abstract Background: Data on pituitary Magnetic Resonance Imaging (MRI) in patients with abnormal pituitary hormones in Saudi Arabia are very scarce. Objective: To define the frequency of normal pituitary MRI in patients with abnormal pituitary hormones in a well-defined population. Design: Retrospective analysis of radiological and hormonal data of patients with pituitary MRI between January 2008 and December 2015. Settings: Departments of Endocrinology and Radiology at King Fahad Armed Forces Hospital, Jeddah, Saudi Arabia. Patients...
Source: Journal of the Association of Physicians of India - Category: General Medicine Tags: J Assoc Physicians India Source Type: research
More News: Addison's Disease | Adrenal Insufficiency | Anesthesia | Anesthesiology | Audiometry | Children | Dexamethasone | Genetics | Men | Paracentesis | Sevoflurane | Ultane