scholarly journals Adrenoleukodystrophy: A Rare Case Report

1970 ◽  
Vol 28 (3) ◽  
pp. 189-192
Author(s):  
MBA Mondol ◽  
MMR Siddiqui ◽  
L Wahab ◽  
MA Hoque ◽  
SU Khan ◽  
...  
Keyword(s):  
Neuropsychiatric Symptoms ◽  
Addison’S Disease ◽  
Addison's Disease ◽  
Mri Findings ◽  
College Hospital ◽  
Medical College ◽  
Basal Cortisol ◽  
Rare Case Report ◽  
Magnetic Resonance Imaging Mri ◽  
Abnormal Behaviors

A young boy of 18 years was admitted at department of Neurology, Dhaka Medical College Hospital with the complaints of progressive generalized hyper-pigmentation, gradual loss of vision, hearing impairment, abnormal behaviors and one episode of seizure. Examination finding revealed, abnormal behaviors, generalized hyper pigmentation of skin, oral mucosa, gum, tongue and palmer creases. He has diffuse hair loss, bilateral primary optic atrophy, bilateral sensoryneural deafness. All routine investigations revealed normal findings except, CSF protein were elevated, biochemical features (very high ACTH, low basal cortisol) of primary adrenal failure, Magnetic resonance imaging (MRI) of the head showed bilateral symmetrical white matter abnormalities in parieto-occipital regions. The diagnosis of Adreno-leukodystrophy (ALD) was strongly suggested from the medical history, biochemical and radiological (MRI) findings of brain. The purpose of our report is to highlight this very rare nontreatable disease to all. A patient of neuropsychiatric symptoms with Addison's disease we must think about ALD, because it's progression can be delayed with early diagnosis and supportive treatments, it's incidence can be reduced by genetic counseling.Key words: Adrenoleukodystrophy (ALD); Addison's disease; Very long chain fatty acid (VLCFA). DOI: 10.3329/jbcps.v28i3.6514J Bangladesh Coll Phys Surg 2010; 28: 189-192

OUTCOMES OF TRANSSPHENOIDAL SURGERY IN CUSHING DISEASE PATIENTS WITH NEGATIVE PITUITARY MAGNETIC RESONANCE IMAGING FINDINGS: A SINGLE-CENTER EXPERIENCE

2020 ◽  
Vol 26 (11) ◽  
pp. 1320-1330
Author(s):  
Congxin Dai ◽  
Siyu Liang ◽  
Xiaohai Liu ◽  
Yanghua Fan ◽  
Xinjie Bao ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Surgical Outcomes ◽  
Transsphenoidal Surgery ◽  
Remission Rate ◽  
Resonance Imaging ◽  
Mri Findings ◽  
College Hospital ◽  
Cushing Disease ◽  
Medical College

Objective: Transsphenoidal surgery (TSS) is a first-line treatment for Cushing disease (CD). However, a subset of patients with CD have no visible adenoma on magnetic resonance imaging (MRI), and whether MRI results affect surgical outcomes is controversial. The aim of this study was to compare the surgical outcomes of CD patients with negative MRI findings to those of patients with positive MRI findings. Methods: The clinical features and outcomes of CD patients who underwent TSS between January 2000 and July 2019 at Peking Union Medical College Hospital were collected from medical records. The clinical, endocrinologic, histopathologic, surgical outcomes, and a minimum 12-month follow-up of 125 consecutive CD patients with negative MRI findings were compared with those of 1,031 consecutive CD patients with MRI-visible adenomas. Results: The total remission rate was 73.3% after TSS, and 11.8% of patients experienced recurrence. Of 1,031 patients with MRI-visible adenomas, postoperative remission was achieved in 762 patients (73.9%), and the recurrence of CD was observed in 94 (12.3%) patients. Of the 125 patients with negative MRI findings, postoperative remission was achieved in 85 (68%) patients, and recurrence was observed in 6 (7.1%) patients. The remission rate and recurrence rate were not significantly different between patients with negative MRI findings and those with positive MRI findings (all P>.05). The remission rate was not significantly different between patients who did or did not undergo bilateral inferior petrosal sinus sampling (BIPSS) in patients with negative MRI findings ( P>.05). In the patients with negative MRI findings who underwent BIPSS, the remission rate of patients with positive BIPSS results was not different from that in patients with negative BIPSS results ( P>.05). The lack of prior TSS, the detection of a tumor during operation, and pathologic confirmation of adenoma were associated with a higher surgical remission rate in patients with negative MRI findings (all P<.05). Similar results were observed in the patients with positive MRI findings (all P<.05). In addition, the major perioperative complications, including intraoperative cerebrospinal fluid leakage, hypopituitarism, and transient diabetes insipidus, were not related to the MRI results (all P>.05). Conclusion: The remission rate and recurrence rate were not different between patients with negative MRI findings and those with positive MRI findings. If CD is clearly diagnosed according to biochemical tests, radiologic examinations, and BIPSS, we recommend TSS as the first-line treatment for patients, even if the MRI results are negative. Abbreviations: ACTH = adrenocorticotropic hormone; BIPSS = bilateral inferior petrosal sinus sampling; CD = Cushing disease; 18F-FDG = 18F-fluorodeoxyglucose; IQR = interquartile range; MRI = magnetic resonance imaging; PET = positron emission tomography; PUMCH = Peking Union Medical College Hospital; TSS = transsphenoidal surgery; UFC = urine free cortisol

scholarly journals Successful Outcome of Pregnancy with Addison’s Disease & Hypothyroidism

2017 ◽  
Vol 13 (1) ◽  
pp. 134-137
Author(s):  
Nargis Nahar ◽  
Iffat Ara
Keyword(s):  
Early Diagnosis ◽  
Addison’S Disease ◽  
Armed Forces ◽  
Successful Outcome ◽  
Addison's Disease ◽  
Endocrine Disorder ◽  
Medical College ◽  
Fetal Surveillance ◽  
In Pregnancy

Hypocortisolism or hypoadrenalism is well known as Addison’s disease which is a long term endocrine disorder. In pregnancy it requires much awareness and attention of treating physicians. Early diagnosis, adequate supplement of glucocorticoid and mineralocorticoid and fetal surveillance through regular antenatal checkup is essential for pregnant ladies with Addison’s disease. Patients should be counselled appropriately regarding medication, life-style and precautions to be taken in case of infection, operational exposure or any other stress. Journal of Armed Forces Medical College Bangladesh Vol.13(1) 2017: 134-137

The natural history of autoimmune Addison’s disease with a non-classical presentation: a case report and review of literature

2018 ◽  
Vol 56 (6) ◽  
pp. 896-900 ◽  
Author(s):  
Jacopo Manso ◽  
Raffaele Pezzani ◽  
Riccardo Scarpa ◽  
Nicoletta Gallo ◽  
Corrado Betterle
Keyword(s):  
Natural History ◽  
Adrenal Cortex ◽  
Clinical Manifestations ◽  
Addison’S Disease ◽  
Plasma Renin ◽  
Dehydroepiandrosterone Sulfate ◽  
Addison's Disease ◽  
Acth Stimulation ◽  
Basal Cortisol ◽  
History Of

Abstract Autoimmune Addison’s disease (AAD) is the most frequent cause of adrenocortical insufficiency. The natural history of AAD usually comprises five consecutive stages with the first stage characterized by the increase of plasma renin consistent with the impairment of pars glomerulosa, which is usually the first affected layer of the adrenal cortex. We describe a 19-year-old female with Hashimoto’s thyroiditis (HT) who underwent an autoantibody screening due to having the personal and family history of other autoimmune diseases in the absence of relevant clinical manifestations. She was positive for adrenal cortex autoantibodies (ACA) and steroid 21-hydroxylase autoantibodies (21-OH Ab) at high titers. She had increased basal levels of ACTH with normal basal cortisol not responding to ACTH stimulation, reduced levels of dehydroepiandrosterone-sulfate but normal levels of orthostatic renin and aldosterone. This scenario was consistent with a subclinical AAD presenting with first impairments in pars fasciculata and reticularis and conserved pars glomerulosa function. Only subsequently, progressive deficiency in pars glomerulosa function has become evident. Review of the literature showed that there was only one case, reported to date, with a similar atypical natural history of AAD. The strategies for screening for ACA/21-OH Ab in patients with HT are discussed.

Adrenocortical Crisis Triggered by Levothyroxine in an Unrecognized Autoimmune Polyglandular Syndrome Type-2: A Case Report with Review of the Literature.

2020 ◽  
Vol 15 ◽  
Author(s):  
Dhruvkumar M. Patel ◽  
Jayanti K. Gurumikhani ◽  
Mukund Kumar Patel ◽  
Maitri M. Patel ◽  
Suyog Y Patel ◽  
...  
Keyword(s):  
Case Report ◽  
Case Reports ◽  
Neuropsychiatric Symptoms ◽  
Hypovolemic Shock ◽  
Addison’S Disease ◽  
Addison's Disease ◽  
Thyroid Function Tests ◽  
Thyroid Disorder ◽  
Review Of The Literature ◽  
Autoimmune Hypothyroidism

Background: Autoimmune polyglandular syndrometype-2 (APS-2) is an uncommon endocrine disorder of Addison's disease with an autoimmune thyroid disorder and/or type 1 diabetes mellitus. The diagnosis is more challenging when a patient presents with nonspecific neuropsychiatric features with hypothyroidism in the setting of unrecognized Addison's disease. Case report: We report a case of subclinical autoimmune hypothyroidism presented with nonspecific neuropsychiatric symptoms precipitated by stress. Despite levothyroxine treatment, her symptoms deteriorated and she was admitted with persistent vomiting and hypovolemic shock. Clinical features and laboratory parameters were suggestive of underlying adrenocortical insufficiency. Pre-existing autoimmune hypothyroidism combined with Addison's disease confirmed the diagnosis of unrecognized APS-2. She remarkably improved and her thyroid function tests also normalized with the treatment of corticosteroids only. Review of the literature: We identified only five published case reports of our title by searching the database. Neufeld and Betterle have reported their data of APS-2 and concluded that a full-blown clinical picture of two or more components of the syndrome is like the tip of the iceberg. Conclusion : The patients of one major component of APS-2 should be screened for other components of the disease to pick up latent cases. Addison's disease should be ruled out in patients of hypothyroidism who are intolerant to levothyroxine.

First presentation of Addison's disease as hyperkalaemia: a rare case report

2019 ◽  
Author(s):  
Yakhlef Salma Ben ◽  
Nada Derkaoui ◽  
Siham Rouf ◽  
Hanane Latrech
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Addison’S Disease ◽  
Addison's Disease ◽  
Rare Case Report

scholarly journals Periportal hepatic involvement of non-Hodgkin lymphoma: a rare case report with magnetic resonance imaging findings

2018 ◽  
Vol 47 (2) ◽  
pp. 986-991
Author(s):  
Mehmet Beyazal
Keyword(s):  
Magnetic Resonance Imaging ◽  
Case Report ◽  
Magnetic Resonance ◽  
Resonance Imaging ◽  
Mri Findings ◽  
Non Hodgkin Lymphoma ◽  
Hepatic Involvement ◽  
Rare Case Report ◽  
Magnetic Resonance Imaging Mri ◽  
Histopathological Results

Lymphoma with hepatic involvement can present with three morphological patterns: diffuse infiltrative, nodular, and mixed infiltrative–nodular. However, lymphoma with periportal infiltrative hepatic involvement is rare. There have been a few reports of cases with this type of hepatic involvement including ultrasound or computed tomography (CT) findings. In this case report, we present CT, magnetic resonance imaging (MRI), and diffusion-weighted MRI findings together with the histopathological results for a patient with periportal hepatic lymphoma presenting with obstructive jaundice.

scholarly journals Fordyce's Disease Treated with Pimacrolimus: A Rare Case Report

2018 ◽  
Vol 9 (2) ◽  
pp. 148-151
Author(s):  
Tania Hoque ◽  
AZM Maidul Islam
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Medical College Hospital ◽  
Rare Disorder ◽  
College Hospital ◽  
Medical College ◽  
Rare Case Report ◽  
Lip Biopsy

Fordyce's disease, a rarely found disease of lips has been reported recently in department of Skin and VD, Gonosashthaya Somaj Vittic Medical College Hospital, Savar, Dhaka. Occasionally it may not be possible to identify the cause. The patient presented with identical features of Fordyce's disease and lip biopsy for histopathology showed the features of Fordyce's disease. Then patient was treated with Pimecrolimus cream and improved. Fordyce's disease is an extremely rare disorder. So its cutaneous findings, histopathology and treatments are highlighted here.Anwer Khan Modern Medical College Journal Vol. 9, No. 2: Jul 2018, P 148-151

scholarly journals Prune Belly Syndrome: A Rare Case Report

2020 ◽  
Vol 17 (1) ◽  
pp. 53-55
Author(s):  
Md Abdul Awal ◽  
Shahara Haque ◽  
Mst Nazmun Nahar ◽  
Husne Ara ◽  
Farhana Kamal
Keyword(s):  
Medical College Hospital ◽  
Prune Belly Syndrome ◽  
Presumptive Diagnosis ◽  
College Hospital ◽  
Medical College ◽  
Prune Belly ◽  
Breath Sounds ◽  
Local Doctor ◽  
Rare Case Report ◽  
Male Neonate

Prune belly Syndrome (PBS), a rare congenital anomaly of uncertain aetiologies has been seldom reported among Bangladeshis. Prune belly syndrome is a birth defect that involve three main problems like poor development of the abdominal musclescausing the skin of the belly area to wrinkle like a prune, undescended testicles and urinary tract problems. We report a case of 15 days old term male neonate with PBS. The baby named Shumon was admitted in Dhaka Medical College Hospital with complaint of lax abdominal wall, absence of both testes since birth. He was born by NVD and consulted with a local doctor who commented that the baby was not normal and referred to Dhaka Medical College Hospital for better management. On physical examination the baby weighted 2.7Kg and full length was 40 cm. He was mildly pale, his respiratory rate was 32 cycles per minute with normal breath sounds. Heart rate was 134 beats per minute. His abdomen was flabby with a wrinkled appearance and there were visible peristalses with palpable kidneys & bilateral undescended testes. His B.P was within normal range and cardiac examination was normal clinically and echocardiographically. USG of abdomen showed bilateral gross hydronephrosis with mega ureter. Micturating cystography showed grade-IV vesico-ureteric reflux bilaterally with no urethral obstruction. Serum creatinine concertration was 80 μmol/L, Serum Sodium was 130 mmol/L and Serum Potassium was 5.8 mmol/L. The presumptive diagnosis was Prune Belly Syndrome. Bangladesh Journal of Urology, Vol. 16, No. 1, Jan 2014 p.53-55

scholarly journals Addisonian Crisis Precipitated By Thyroxine Therapy In A Patient With Type 2 Autoimmune Polyglandular Syndrome

2014 ◽  
Vol 3 (4) ◽  
pp. 54-56
Author(s):  
Sunil Pokharel ◽  
A Shrestha ◽  
D Maksey ◽  
B Shrestha ◽  
P Paudel ◽  
...  
Keyword(s):  
Skin Pigmentation ◽  
Rare Condition ◽  
Addison’S Disease ◽  
Addison's Disease ◽  
Medical College ◽  
Thyroxine Therapy ◽  
Autoimmune Polyglandular Syndrome ◽  
Adrenocortical Failure ◽  
Secondary Hypoadrenalism

Primary hypoadrenalism(Addison’s disease) refers to glucocorticoid deficiency occurring in the setting of adre­nal disease(mostly due to autoimmune adrenalitis), whereas secondary hypoadrenalism arises because of deficiency of ACTH(mostly due to pituitary disease) . A major distinction between these two is that mineralocorticoid deficiency invari­ably accompanies primary hypoadrenalism, but this does not occur in secondary hypoadrenalism because only ACTH is de­ficient; the renin-angiotensin-aldosterone axis is intact and in primary hypoadrenalism skin pigmentation is always present due to increased ACTH secretion(unless of short duration) but it is absent in secondary hypoadrenalism. Addison’s disease or primary adrenocortical failure was first described by English physician Thomas Addison, who found it in six patients with adrenal tuberculosis in 1855(1). Addisonian crisis is a potentially fatal condition associated mainly with an acute defi­ciency of the glucocorticoid cortisol and, to a lesser extent, the mineralocorticoid aldosterone. This is a rare condition with an estimated incidence in the developed world of 0.8 cases per 100,000 and prevalence of 4 to 11 cases/100,000 population. Despite optimised life-saving glucocorticoid replacement and mineralocorticoid-replacement therapy, it is life threatening if overlooked(2-3). Hypothyroidism may mask the addison’s disease so in patients with panhypopituitarism and autoim­mune polyglandular syndrome type 2 thyroxine replacement without adequate steroid replacement may precipitate acute addisonian crisis. Journal of Chitwan Medical College 2013; 3(4); 54-56 DOI: http://dx.doi.org/10.3126/jcmc.v3i4.9557

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