scholarly journals Adrenoleukodystrophy as a Cause of Spastic Paraparesis and Hyperpigmentation

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A113-A113
Author(s):  
Priyanka Kesavan Chary ◽  
Aziz Ur Rehman ◽  
Tamis Marie Bright
Keyword(s):  
Erectile Dysfunction ◽  
Lower Extremity ◽  
Adrenal Insufficiency ◽  
Adrenal Glands ◽  
Spastic Paraparesis ◽  
Well Being ◽  
Adrenal Crisis ◽  
Lower Extremity Weakness ◽  
Mri Brain ◽  
Work Up

Abstract Background: X-linked Adrenoleukodystrophy (X-ALD) is caused by an abnormal gene mutation on the X chromosome which codes for an abnormal ABC transporter, preventing transport of very long chain fatty acids (VLCFAs) into peroxisomes for beta oxidation. These VLCFAs, unable to be broken down, thus accumulate in the CNS, adrenal cortex, and Leydig cells of the testes. The clinical presentation depends upon the anatomical involvement, which most often includes the CNS and adrenal glands, and can be a cause of adrenomyeloneuropathy (AMN) or adrenal insufficiency. Case Report: We report a 44 year old male who presented with 9 years of progressive spastic paraparesis. Physical exam was significant for lower extremity spasticity, 3/5 bilateral lower extremity weakness, and hyperpigmentation. His initial work-up for autoimmune disease, MRI brain, and lumbar puncture were unremarkable, and genetic testing for Hereditary Spastic Paraparesis was negative. However, due to advancing symptoms over the years with progression of spasticity, polyneuropathy, development of erectile dysfunction and significant hyperpigmentation, re-evaluation with MRI brain and EMG revealed diffuse symmetrical cerebral and cerebellar volume loss and axonal motor peripheral neuropathy, respectively. Due to hyperpigmentation, further work-up for VLCFAs was positive and presence of the ABCD1 mutation confirmed the diagnosis of X-ALD. Evaluation of adrenal glands yielded high ACTH of >2000 pg/mL (normal: 7.2–63.3) and low AM cortisol of 2.5 ug/dL (normal: 6.2–19.4). Insignificant increase of cortisol from 2.5 ug/dL to 2.7 ug/dL with cosyntropin confirmed primary adrenal insufficiency as the cause of hyperpigmentation with elevated ACTH. Surprisingly, his testosterone level was normal at 542 (normal: 250–1100 ng/dL) and suggestive of Leydig cell-sparing and neuropathy-induced erectile dysfunction. The patient was started on hydrocortisone for adrenal insufficiency with improvement in his fatigue and feelings of well-being. He received physical therapy and is being monitored closely for progression of AMN by Neurology. Conclusion: Our case suggests that ALD should be considered in the differential diagnosis of unexplained paraparesis with associated hyperpigmentation in males. Moreover, timely diagnosis and medical intervention can prevent life-threatening adrenal crisis in such patients.

scholarly journals EXTENSIVE EXPERTISE IN ENDOCRINOLOGY: Adrenal crisis

2015 ◽  
Vol 172 (3) ◽  
pp. R115-R124 ◽  
Author(s):  
Bruno Allolio
Keyword(s):  
Patient Education ◽  
Adrenal Insufficiency ◽  
Well Being ◽  
Stressful Events ◽  
Major Surgery ◽  
Adrenal Crisis ◽  
Self Administration ◽  
Necrosis Factor Alpha ◽  
Hydrocortisone Administration ◽  
Glucocorticoid Deficiency

Adrenal crisis is a life-threatening emergency contributing to the excess mortality of patients with adrenal insufficiency. Studies in patients on chronic replacement therapy for adrenal insufficiency have revealed an incidence of 5–10 adrenal crises/100 patient years and suggested a mortality rate from adrenal crisis of 0.5/100 patient years. Patients with adrenal crisis typically present with profoundly impaired well-being, hypotension, nausea and vomiting, and fever responding well to parenteral hydrocortisone administration. Infections are the major precipitating causes of adrenal crisis. Lack of increased cortisol concentrations during infection enhances pro-inflammatory cytokine release and sensitivity to the toxic effects of these cytokines (e.g. tumour necrosis factor alpha). Furthermore, pro-inflammatory cytokines may impair glucocorticoid receptor function aggravating glucocorticoid deficiency. Treatment of adrenal crisis is simple and highly effective consisting of i.v. hydrocortisone (initial bolus of 100 mg followed by 200 mg over 24 h as continuous infusion) and 0.9% saline (1000 ml within the first hour). Prevention of adrenal crisis requires appropriate hydrocortisone dose adjustments to stressful medical procedures (e.g. major surgery) and other stressful events (e.g. infection). Patient education is a key for such dose adjustments but current education concepts are not sufficiently effective. Thus, improved education strategies are needed. Every patient should carry an emergency card and should be provided with an emergency kit for parenteral hydrocortisone self-administration. A hydrocortisone pen would hold a great potential to lower the current barriers to hydrocortisone self-injection. Improved patient education and measures to facilitate parenteral hydrocortisone self-administration in impending crisis are expected to significantly reduce morbidity and mortality from adrenal crisis.

Case Report: HTLV-1–Induced Adult T-Cell Leukemia and Tropical Spastic Paresis

2021 ◽  
Author(s):  
Reece Rosenthal ◽  
Julika Kaplan ◽  
Mohammed Ahmed ◽  
Martha Mims ◽  
Jill E. Weatherhead
Keyword(s):  
T Cell ◽  
Lower Extremity ◽  
Spastic Paraparesis ◽  
T Cell Leukemia ◽  
Cell Leukemia ◽  
Lower Extremity Weakness ◽  
T Lymphotropic Virus ◽  
Adult T Cell Leukemia ◽  
Spastic Paresis

Human T-lymphotropic virus type 1 (HTLV-1) is a retrovirus endemic in many areas around the world. HTLV-1 can induce the development of adult T-cell leukemia (ATL) or myelopathy/tropical spastic paraparesis (HAM/TSP). We report a patient who presented to our outpatient clinic with massive splenomegaly, weight loss, urinary retention, and lower extremity weakness for the previous 3 years. The patient was found to have positive HTLV-1 by ELISA and Western blot from peripheral blood. Evaluation of the spleen demonstrated T-cell large granular lymphocyte leukemia consistent with ATL. In addition to progressive lower extremity weakness, hyperreflexia and clonus, cerebral spinal fluid was positive for HTLV-1 by ELISA and had a reversed CD4-to-CD8 ratio consistent with HAM/TSP. These findings suggest HTLV-1 induced ATL and HAM/TSP presenting simultaneously in the same patient.

scholarly journals RECURRENT INVASIVE DUCTAL BREAST CARCINOMA PRESENTING AS PRIMARY ADRENAL INSUFFICIENCY WITH ADRENAL CRISIS

2020 ◽  
Vol 6 (2) ◽  
pp. e50-e53
Author(s):  
Mitha Madhava Naik ◽  
Michael James Nestasie ◽  
Murray B. Gordon
Keyword(s):  
Breast Carcinoma ◽  
Adrenal Insufficiency ◽  
Adrenal Crisis ◽  
Primary Adrenal Insufficiency ◽  
Invasive Ductal Breast Carcinoma ◽  
Ductal Breast Carcinoma ◽  
First Case ◽  
History Of ◽  
Recurrent Breast ◽  
Work Up

Objective: We report the first case of recurrent ductal breast carcinoma presenting as primary adrenal insufficiency. Methods: We describe a patient who developed a recurrence of invasive ductal breast carcinoma which went undetected until the patient presented with fulminant adrenal crisis. We describe here an overview of the clinical presentation, work-up, diagnosis, and treatment of adrenal crisis. Results: Adrenal crisis due to bilateral adrenal metastases secondary to invasive ductal breast carcinoma is an exceedingly rare occurrence. To our knowledge, this is the first case of recurrent breast carcinoma in which the presenting feature is primary adrenal insufficiency. Conclusion: Patients with a history of breast carcinoma and bilateral adrenal enlargement should be evaluated for the presence of primary adrenal insufficiency.

scholarly journals Fatal Rotavirus Infection in a 4-Year-Old with Unsuspected Autoimmune Adrenal Insufficiency

2017 ◽  
Vol 7 (1) ◽  
pp. 130-135
Author(s):  
Alison Krywanczyk ◽  
Elizabeth A. Bundock
Keyword(s):  
Adrenal Insufficiency ◽  
Adrenal Glands ◽  
Lymphocytic Infiltration ◽  
Adrenal Crisis ◽  
Emergency Rescue ◽  
Presenting Symptoms ◽  
Addison Disease ◽  
Autoimmune Destruction ◽  
History Of ◽  
Antigen Testing

The diagnosis of adrenal insufficiency is often delayed, as the presenting symptoms of fatigue, abdominal pain, and anorexia are vague and nonspecific. However, timely diagnosis and treatment with replacement steroids are needed to prevent fatal adrenal crisis. While the most common cause of primary adrenal insufficiency in childhood is congenital adrenal hyperplasia, a significant minority (13-23%) is caused by autoimmune destruction of the gland. We present a case of a 4-year-old, previously healthy child who had a one-day history of nausea and vomiting, and was found unresponsive by her caretaker. Despite emergency rescue and transport to the hospital, she was pronounced dead. At autopsy, the adrenal glands were atrophied. Histologic examination revealed lymphocytic infiltration of the adrenal glands consistent with autoimmune adrenal insufficiency. Fecal viral antigen testing was positive for rotavirus. The cause of death was determined to be adrenal crisis in the setting of rotavirus gastroenteritis due to adrenal insufficiency (Addison disease).

scholarly journals Standardised patient education in adrenal insufficiency: a prospective multi-centre evaluation

2020 ◽  
Vol 183 (2) ◽  
pp. 119-127
Author(s):  
Stephanie Burger-Stritt ◽  
Annemarie Eff ◽  
Marcus Quinkler ◽  
Tina Kienitz ◽  
Bettina Stamm ◽  
...  
Keyword(s):  
Patient Education ◽  
Adrenal Insufficiency ◽  
Well Being ◽  
Education Programme ◽  
Basic Knowledge ◽  
Adrenal Crisis ◽  
Data Sets ◽  
Subjective Well Being ◽  
Multi Centre Study ◽  
Repeated Training

Objective Patients with adrenal insufficiency (AI) suffer from impaired quality of life and are at risk of adrenal crisis (AC) despite established replacement therapy. Patient education is regarded an important measure for prevention of AC and improvement of AI management. A standardized education programme was elaborated for patients with chronic AI in Germany. Design Longitudinal, prospective, questionnaire-based, multi-centre study. Methods During 2-h sessions, patients (n = 526) were provided with basic knowledge on AI, equipped with emergency cards and sets and trained in self-injection of hydrocortisone. To evaluate the education programme, patients from eight certified centres completed questionnaires before, immediately after and 6–9 months after training. Results 399 completed data sets were available for analysis. Questionnaire score-values were significantly higher after patient education, indicating successful knowledge transfer (baseline: 17 ± 7.1 of a maximum score of 29; after training: 23 ± 4.2; P < 0.001), and remained stable over 6–9 months. Female sex, younger age and primary cause of AI were associated with higher baseline scores; after education, age, cause of AI and previous adrenal crisis had a significant main effect on scores. 91% of patients would dare performing self-injection after training, compared to 68% at baseline. An improvement of subjective well-being through participation in the education programme was indicated by 95% of the patients 6–9 months after participation. Conclusion Patient group education in chronic AI represents a helpful tool for the guidance of patients, their self-assurance and their knowledge on prevention of adrenal crises. Repeated training and adaptation to specific needs, for example, of older patients is needed.

scholarly journals MON-160 The Burdens of Adrenal Insufficiency: A Survey Study from Two Tertiary Care Centers in the United States

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Natalia Genere ◽  
Dingfeng Li ◽  
Majlinda Xhikola ◽  
Emma Behnken ◽  
Tiffany Abbondanza ◽  
...  
Keyword(s):  
Adrenal Insufficiency ◽  
Replacement Therapy ◽  
Burden Of Disease ◽  
General Health ◽  
Well Being ◽  
The United States ◽  
Comfort Level ◽  
Survey Study ◽  
Adrenal Crisis ◽  
Glucocorticoid Replacement Therapy

Abstract Background: Adrenal insufficiency (AI) is a chronic disorder necessitating life-long replacement. Patients’ quality of life and health outcomes depend on knowledge and comfort level with self-management. Objective: To determine patients’ knowledge in regards to diagnosis and management, estimate burden of disease and to identify predictors of adverse outcomes in patients with AI Methods: Survey study of patients with AI evaluated at two tertiary medical centers between 2015 and 2019. Collected variables included data on circumstances of AI diagnosis, symptoms, management, burden of disease, and overall well-being. Results: Among 785 patients (mean age at diagnosis 44.2 ± 18.0, 64% women, and 92% Caucasian), 310 (40%) had primary AI (PAI), 255 (33%) had secondary AI (SAI) not related to glucocorticoid use, and 211 (27%) had steroid-induced AI (SIAI). Patients were diagnosed with AI after presenting with symptoms for a median of 1 year (0-6), 28% with symptoms lasting &gt;2 years, 44% visiting emergency room (ER) at least once prior to diagnosis. A third of patients reported a discordant diagnosis from their medical record. Baseline glucocorticoid replacement therapy included hydrocortisone (HC) in 447 (59%), median of 20 mg (IQR 15 - 25mg), prednisone in 190 (25%), median of 5 mg (IQR 4 - 7.5mg), other regimens in 38 (5%), and no steroids in the remainder (85, 11%); 197 (26%) patients reported daily equivalent HC dose of &gt;25 mg. Overall, 549 (73%) of patients reported use of stress dose steroids at least once per year, higher in patients taking HC &gt;25 mg/day (3.2 vs 2.7 times per year if HC&lt;25mg/day, p=0.01). Improper use of stress steroids was reported in 193, 25% patients. Patients taking HC&gt;25 mg /day reported a higher number of adrenal crises (1.6 vs 1.3 in patients on HC&lt;25 mg/day, p=0.04). Among 314 (41%) patients who reported ER visits due to adrenal crisis, only a third received prompt glucocorticoids. One third of patients described their general health as fair or poor. Predictors of negative perceptions of overall health included SIAI (OR 6.2 and 2.5, vs PAI and SAI respectively), poor understanding of diagnosis (OR 2.6), daily HC&gt;25 mg (OR 2.1), and presence of at least one adrenal crisis (OR 2.3) (p&lt;0.001 for all). Conclusion: Patients with AI experience delay in diagnosis, and a third do not fully understand their diagnosis. In addition to patient education, interventions to improve general health and outcomes may include selecting a physiological glucocorticoid replacement therapy, prevention of adrenal crisis, and improving ER care.

Quick Reference: Chapter 3: The Musculoskeletal System and Chapter 4: The Nervous System

2000 ◽  
Vol 5 (3) ◽  
pp. 4-4
Keyword(s):  
Nervous System ◽  
Lower Extremity ◽  
Musculoskeletal System ◽  
Multistep Method ◽  
Manual Muscle Testing ◽  
Motor Deficits ◽  
Lower Extremity Weakness ◽  
Residual Symptoms ◽  
Muscle Testing ◽  
Almost All

Abstract Lesions of the peripheral nervous system (PNS), whether due to injury or illness, commonly result in residual symptoms and signs and, hence, permanent impairment. The AMA Guides to the Evaluation of Permanent Impairment (AMA Guides), Fourth Edition, divides PNS deficits into sensory and motor and includes pain in the former. This article, which regards rating sensory and motor deficits of the lower extremities, is continued from the March/April 2000 issue of The Guides Newsletter. Procedures for rating extremity neural deficits are described in Chapter 3, The Musculoskeletal System, section 3.1k for the upper extremity and sections 3.2k and 3.2l for the lower limb. Sensory deficits and dysesthesia are both disorders of sensation, but the former can be interpreted to mean diminished or absent sensation (hypesthesia or anesthesia) Dysesthesia implies abnormal sensation in the absence of a stimulus or unpleasant sensation elicited by normal touch. Sections 3.2k and 3.2d indicate that almost all partial motor loss in the lower extremity can be rated using Table 39. In addition, Section 4.4b and Table 21 indicate the multistep method used for spinal and some additional nerves and be used alternatively to rate lower extremity weakness in general. Partial motor loss in the lower extremity is rated by manual muscle testing, which is described in the AMA Guides in Section 3.2d.

Adrenal crisis in patients with primary and secondary adrenal insufficiency

2006 ◽  
Vol 114 (S 1) ◽  
Author(s):  
S Hahner ◽  
M Löffler ◽  
D Weismann ◽  
AC Koschker ◽  
M Fassnacht ◽  
...  
Keyword(s):  
Adrenal Insufficiency ◽  
Adrenal Crisis ◽  
Secondary Adrenal Insufficiency

scholarly journals Green Brazilian Propolis Action on Macrophages and Lymphoid Organs of Chronically Stressed Mice

2008 ◽  
Vol 5 (1) ◽  
pp. 71-75 ◽  
Author(s):  
Fabiane Missima ◽  
José Maurício Sforcin
Keyword(s):  
Bone Marrow ◽  
Adrenal Glands ◽  
Well Being ◽  
Peritoneal Macrophages ◽  
Histopathological Analysis ◽  
No Production ◽  
Generic Term ◽  
Brazilian Propolis ◽  
Immunomodulatory Action ◽  
New Research

Stress is a generic term that summarizes how psychosocial and environmental factors influence physical and mental well-being. The interaction between stress and immunity has been widely investigated, involving the neuroendocrine system and several organs. Assays using natural products in stress models deserve further investigation. Propolis immunomodulatory action has been mentioned and it has been the subject of scientific investigation in our laboratory. The aim of this study was to evaluate if and how propolis activated macrophages in BALB/c mice submitted to immobilization stress, as well as the histopathological analysis of the thymus, bone marrow, spleen and adrenal glands. Stressed mice showed a higher hydrogen peroxide (H2O2) generation by peritoneal macrophages, and propolis treatment potentiated H2O2generation and inhibited nitric oxide (NO) production by these cells. Histopathological analysis showed no alterations in the thymus, bone marrow and adrenal glands, but increased germinal centers in the spleen. Propolis treatment counteracted the alterations found in the spleen of stressed mice. New research is being carried out in order to elucidate propolis immunomodulatory action during stress.

scholarly journals Epidemiology of adrenal crisis in chronic adrenal insufficiency: the need for new prevention strategies

2010 ◽  
Vol 162 (3) ◽  
pp. 597-602 ◽  
Author(s):  
Stefanie Hahner ◽  
Melanie Loeffler ◽  
Benjamin Bleicken ◽  
Christiane Drechsler ◽  
Danijela Milovanovic ◽  
...  
Keyword(s):  
Risk Factors ◽  
Adrenal Insufficiency ◽  
Educational Status ◽  
Cross Sectional Study ◽  
Sudden Onset ◽  
Stressful Events ◽  
Adrenal Crisis ◽  
Cross Sectional ◽  
Crisis Prevention ◽  
Dhea Treatment

ObjectiveAdrenal crisis (AC) is a life-threatening complication of adrenal insufficiency (AI). Here, we evaluated frequency, causes and risk factors of AC in patients with chronic AI.MethodsIn a cross-sectional study, 883 patients with AI were contacted by mail. Five-hundred and twenty-six patients agreed to participate and received a disease-specific questionnaire.ResultsFour-hundred and forty-four datasets were available for analysis (primary AI (PAI), n=254; secondary AI (SAI), n=190). Forty-two percent (PAI 47% and SAI 35%) reported at least one crisis. Three hundred and eighty-four AC in 6092 patient years were documented (frequency of 6.3 crises/100 patient years). Precipitating causes were mainly gastrointestinal infection and fever (45%) but also other stressful events (e.g. major pain, surgery, psychic distress, heat and pregnancy). Sudden onset of apparently unexplained AC was also reported (PAI 6.6% and SAI 12.7%). Patients with PAI reported more frequent emergency glucocorticoid administration (42.5 vs 28.4%, P=0.003). Crisis incidence was not influenced by educational status, body mass index, glucocorticoid dose, DHEA treatment, age at diagnosis, hypogonadism, hypothyroidism or GH deficiency. In PAI, patients with concomitant non-endocrine disease were at higher risk of crisis (odds ratio (OR)=2.02, 95% confidence interval (CI) 1.05–3.89, P=0.036). In SAI, female sex (OR=2.18, 95% CI 1.06–4.5, P=0.035) and diabetes insipidus (OR=2.71, 95% CI 1.22–5.99, P=0.014) were associated with higher crisis incidence.ConclusionAC occurs in a substantial proportion of patients with chronic AI, mainly triggered by infectious disease. Only a limited number of risk factors suitable for targeting prevention of AC were identified. These findings indicate the need for new concepts of crisis prevention in patients with AI.

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