- A case of subacute combined degeneration of the spinal cord due to folic acid and copper deficiency. [Journal Article]
- BDBrain Dev 2018 Aug 10
- Subacute combined degeneration of the spinal cord (SACD) is a rare neurologic disorder manifesting progressive symptoms of paresthesia and spastic paralysis. Herein we present an autopsy case of SACD...
Subacute combined degeneration of the spinal cord (SACD) is a rare neurologic disorder manifesting progressive symptoms of paresthesia and spastic paralysis. Herein we present an autopsy case of SACD caused by folic acid and copper deficiency. A 16-year-old male presented with gradually worsening unsteady gait, and bladder and rectal dysfunction. He had a medical history of T-cell acute lymphoblastic leukemia (T-ALL), diagnosed 1.5 years previously. The patient had undergone chemotherapy, including methotrexate, as well as allogeneic bone mallow transplantation. Laboratory tests revealed normal vitamin B12 and methylmalonic acid concentration, but reduced serum copper, ceruloplasmin and folic acid concentrations. Magnetic resonance imaging revealed symmetrical T2 signal hyperintensities in the posterior and lateral spinal cord. The patient was treated with oral copper, oral folate, and intravenous vitamin B12. A month after this treatment, the patient's symptoms were unchanged, and 2 months later he died of acute adrenal insufficiency. The pathological findings of the spinal cord were compatible with SACD. Because SACD is usually reversible with early treatment, it should be suspected in high-risk patients undergoing chemotherapy or those who are malnourished with characteristic symptoms of SACD, even in young patients.
- Hyponatremia in kidney transplant patients: its pathophysiologic mechanisms. [Journal Article]
- CKClin Kidney J 2018; 11(4):581-585
- Kidney transplant patients (KTPs), and particularly those with advanced chronic kidney rejection, may be affected by opportunistic infections, metabolic alterations and vascular and oncologic disease...
Kidney transplant patients (KTPs), and particularly those with advanced chronic kidney rejection, may be affected by opportunistic infections, metabolic alterations and vascular and oncologic diseases that promote clinical conditions that require a variety of treatments, the combinations of which may predispose them to hyponatremia. Salt and water imbalance can induce abnormalities in volemia and/or serum sodium depending on the nature of this alteration (increase or decrease), its absolute magnitude (mild or severe) and its relative magnitude (body sodium:water ratio). Hyponatremia appears when the body sodium:water ratio is reduced due to an increase in body water or a reduction in body sodium. Additionally, hyponatremia is classified as normotonic, hypertonic and hypotonic and while hypotonic hyponatremia is classified in hyponatremia with normal, high or low extracellular fluid. The main causes of hyponatremia in KTPs are hypotonic hyponatremia secondary to water and salt contraction with oral hydration (gastroenteritis, sepsis), free water retention (severe renal failure, syndrome of inappropriate antidiuretic hormone release, hypothyroidism), chronic hypokalemia (rapamycin, malnutrition), sodium loss (tubular dysfunction secondary to nephrocalcinosis, acute tubular necrosis, tubulitis/rejection, interstitial nephritis, adrenal insufficiency, aldosterone resistance, pancreatic drainage, kidney-pancreas transplant) and hyponatremia induced by medication (opioids, cyclophosphamide, psychoactive, potent diuretics and calcineurinic inhibitors). In conclusion, KTPs are predisposed to develop hyponatremia since they are exposed to immunologic, infectious, pharmacologic and oncologic disorders, the combinations of which alter their salt and water homeostatic capacity.
- Variations in the management of acute illness in children with congenital adrenal hyperplasia: An audit of three paediatric hospitals. [Journal Article]
- CEClin Endocrinol (Oxf) 2018 Aug 07
- CONCLUSIONS: Pre-hospital and in-hospital management of children with CAH can vary between health services. Children under 12 months have lower levels of stress dosing prior to hospital than other age groups. Experience with acute episodes improves self-management of CAH in the context of acute illness in educated patient populations. This article is protected by copyright. All rights reserved.
- LATENT ADRENAL INSUFFICIENCY: CONCEPT, CLUES TO DETECTION, AND DIAGNOSIS. [Journal Article]
- EPEndocr Pract 2018 Aug 07
- In 1855, Thomas Addison described an illness now known as Addison disease (AD) caused by damage to the adrenal cortex and manifesting in weakness, weight loss, hypotension, gastrointestinal disturban...
In 1855, Thomas Addison described an illness now known as Addison disease (AD) caused by damage to the adrenal cortex and manifesting in weakness, weight loss, hypotension, gastrointestinal disturbances, and brownish pigmentation of the skin and mucous membranes. Corticosteroid supplementation, corticotropin (adrenocorticotropic hormone [ACTH] of medicinal use) test, and anti-adrenal auto-antibodies (AA) have come into use in the 100 years since Addison's death. Following the methodological innovations, 4 disorders which share impaired response to corticotropin in common have been discovered (i.e., partial AD, apigmented adrenal insufficiency [AI], subclinical AI, and the AA-positive state exclusively in subjects proven to have an impaired response to corticotropin). As they are hidden, potentially serious conditions, these disorders are bound together as latent AI (LAI). Diagnosis of AD is often delayed, which may lead to adrenal crisis. If LAI were widely recognized, such delays would not exist and crises would be averted. The 3 existing guidelines do not refer much to LAI patients outside those in acute situations. To address this, information relevant to clinical manifestations and diagnostic tests of LAI was sought in the literature. Signs and symptoms that are useful clues to begin a diagnostic workup are presented for endocrinologists to identify patients with suspected LAI. The utility of 2 corticotropin test protocols is reviewed. To endorse LAI shown by the corticotropin test, monitoring items following corticosteroid supplementation are cited from the guidelines and supplemented with the author's observations.
- [Rapid exacerbation of thrombotic microangiopathy accompanied by electrocardiogram abnormality leading to death]. [Journal Article]
- RKRinsho Ketsueki 2018; 59(7):895-898
- A 73-year-old female was hospitalized with thrombotic microangiopathy (TMA) diagnosis because of consciousness disturbance, anemia, thrombocytopenia, renal dysfunction, and electrocardiogram abnormal...
A 73-year-old female was hospitalized with thrombotic microangiopathy (TMA) diagnosis because of consciousness disturbance, anemia, thrombocytopenia, renal dysfunction, and electrocardiogram abnormality. The patient died on day 12 of the symptom onset. The immunohistochemical analysis of microclot found in the autopsy of coronary artery confirmed TMA. It was suggested that the relationship to collagen disease by antinuclear antibody positive and the necessity of initiating circulation management and plasma exchange immediately before approximately 1×104 of platelets for the prognosis. The findings suggested considering TMA at the time of an unidentified shock, particularly acute adrenal insufficiency.
- The prognostic factors of HIV-negative adult cryptococcal meningitis with a focus on cranial MRI-based neuroimaging findings. [Journal Article]
- JCJ Clin Neurosci 2018 Jul 02
- The prognostic significance of clinical characteristics and neuroimaging features, especially cranial magnetic resonance imaging (MRI)-based neuroimaging features, in patients with human immunodefici...
The prognostic significance of clinical characteristics and neuroimaging features, especially cranial magnetic resonance imaging (MRI)-based neuroimaging features, in patients with human immunodeficiency virus (HIV)-negative cryptococcal meningitis (CM) has rarely been examined in the literature. We analyzed the clinical characteristics and MRI findings of 65 HIV-negative patients (43 men, 22 women, age 19-86 years) collected during a study period of 15 years (January 2001-December 2015). Their underlying conditions included diabetes mellitus, liver cirrhosis, hematologic disorders, autoimmune disorders, malignancy, chronic obstructive pulmonary disease, adrenal insufficiency and organ transplantation, and their clinical presentations included headache, altered consciousness, fever, seizure, visual disturbance and hearing impairment. The main cranial MRI findings were basal meningeal enhancement (44.6%, 29/65), dilated Virchow-Robin space/pseudocyst (43.1%, 28/65), "dirty" cerebrospinal fluid sign (38.5%, 25/65), hydrocephalus (36.9%, 21/65), acute/subacute cerebral infarct (ASCI, 21.5%, 14/65), cryptococcoma (9.2%, 6/65), and hazy brain base (1.5%, 1/65). The therapeutic results of the 65 patients were evaluated using the Glasgow Outcome Scale (GOS). A comparison of the good outcome group (GOS score = 4-5, n = 37) and poor outcome group (GOS score = 1-3, n = 28) revealed that both the presence of seizures and ASCI were significantly associated with the prognosis. A comparison of the groups with ASCI (n = 14) and without ASCI (n = 51) revealed that the presence of basal meningeal enhancement was a significant factor for the development of ASCI, and that this correlation may be associated with intense basal meningeal inflammation in adjacent small vessels.
- Acute Adrenal Insufficiency in the Perioperative Period: A Case Report. [Journal Article]
- PA A Pract 2018 Jul 16
- Acute adrenal insufficiency is a rare but potentially life-threatening event during the perioperative period. The usual manifestations of an acute adrenal crisis can mimic common postoperative compli...
Acute adrenal insufficiency is a rare but potentially life-threatening event during the perioperative period. The usual manifestations of an acute adrenal crisis can mimic common postoperative complications and a high index of suspicion is required for the diagnosis. Early diagnosis and prompt treatment can be lifesaving. We present the case of a 65-year-old man who, after a partial nephrectomy, developed acute adrenal insufficiency, which remained undiagnosed in the postoperative period, eventually leading to cardiac arrest. This case highlights the need for perioperative physicians to have a watchful eye for diagnosing and treating this uncommon yet lethal condition.
- [The 464th case: sudden convulsion and coma in a patient with acute leukemia]. [Journal Article]
- ZNZhonghua Nei Ke Za Zhi 2018 Jul 01; 57(7):539-541
- A 46-year-old female patient was diagnosed as mixed phenotype acute leukemia with chief complaints of intermittent gingival swelling and bleeding for 1 week. The induction chemotherapy was not effect...
A 46-year-old female patient was diagnosed as mixed phenotype acute leukemia with chief complaints of intermittent gingival swelling and bleeding for 1 week. The induction chemotherapy was not effective. During the second course chemotherapy, the patient had sudden convulsion and coma. She was transferred to the intensive care unit with worsened condition after transient improvement. Her final diagnosis was secondary adrenocortical insufficiency, adrenal crisis, intractable hyponatremia and cerebral edema.
- Heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A1) can cause transient adrenal insufficiency and life-threatening failure to thrive. [Review]
- HHormones (Athens) 2018 Jul 11
- The first and rate-limited step of steroidogenesis in all steroidogenic tissues is the conversion of cholesterol to pregnenolone, catalysed by P450scc side-chain cleavage enzyme (CYP11A1 gene-SCC). S...
The first and rate-limited step of steroidogenesis in all steroidogenic tissues is the conversion of cholesterol to pregnenolone, catalysed by P450scc side-chain cleavage enzyme (CYP11A1 gene-SCC). SCC deficiency has been characterised as an autosomal recessive disorder, although it may also be inherited as an autosomal dominant trait in humans. Here, we describe a family of three members carrying the same novel heterozygous CYP11A1 mutation, a c.235G > A missense variant in exon 1: pVal79Ile. A 46 XY boy (P1) was presented at the age of 3 months with early onset adrenal insufficiency and life-threatening failure to thrive, with low adrenal androgens but normal external genitalia. Five years later, the parents had twin girls, one of whom (P2) presented acute adrenal crisis a few hours after birth. The father (P3), born at term, was reported as having suffered from failure to thrive during the neonatal period, though not his only male sibling. This report of severe early adrenal insufficiency caused by a heterozygous mutation of the CYP11A1 gene clearly demonstrates that SCC deficiency may be inherited as an autosomal dominant trait in humans.
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- EGFR T790M-Positive Lung Adenocarcinoma Metastases to the Pituitary Gland Causing Adrenal Insufficiency: A Case Report. [Journal Article]
- CRCase Rep Oncol Med 2018; 2018:2349021
- A 64-year-old man, with history of micropapillary thyroid cancer and epidermal growth factor receptor-positive lung adenocarcinoma with no evidence of active disease for 3 years after chemotherapy an...
A 64-year-old man, with history of micropapillary thyroid cancer and epidermal growth factor receptor-positive lung adenocarcinoma with no evidence of active disease for 3 years after chemotherapy and radiation on erlotinib, presented with fatigue, nausea, lack of appetite, and xeroderma. A screening magnetic resonance image of the patient's head demonstrated a new bilateral pituitary mass. Initial evaluation revealed low morning cortisol, and the patient was diagnosed with adrenal insufficiency. His symptoms rapidly improved with maintenance glucocorticoids. Soon thereafter, the patient developed an acute visual deficit secondary to enlargement of the pituitary mass, and biopsy revealed EGFR T790M positive metastatic lung adenocarcinoma. Hence, we present a rare case of metastatic lung adenocarcinoma to the pituitary causing secondary adrenal insufficiency.