keyword
https://read.qxmd.com/read/30430507/mycobacterium-fortuitum-infection-associated-with-achalasia
#21
Rachid Bouchentouf
The association achalasia and non tuberculous Mycobacteria lung infection is described in the literature. Most of the time Mycobacterium Fortuitum is responsible of aspiration pneumonia that didn't respond to usual antibiotic therapy. We report a new case about a 15 year-old woman with Allgrove's syndrome history. The chest imaging showed a right pulmonary condensation and the diagnosis was bacteriological. Mycobacterium Fortuitum resistant to Rifampicin, isoniazid, Pyrazinamide and ethamabutol was isolated...
May 2018: La Tunisie Médicale
https://read.qxmd.com/read/30325493/mycobacterium-fortuitum-infection-associated-with-achalasia
#22
Rachid Bouchentouf
The association between achalasia and no tuberculosis mycobacterial   lung infection is well described in the literature. MycobactériumFortuitum is often responsible, and the clinical's presentation   is an aspiration pneumonia resistant to usual antibiotic therapy. We report the case of a 15 year-old patient with the history of Allgrove syndrome. The chest imaging showed right lung congestion; the diagnosis was bacteriological and MycobactériumFortuitum resistant to rifampicin, isoniazid, pyrazinamide and ethambutol was isolated...
March 2018: La Tunisie Médicale
https://read.qxmd.com/read/30312418/a-new-multi-system-disorder-caused-by-the-g%C3%AE-s-mutation-p-f376v
#23
Heike Biebermann, Gunnar Kleinau, Dirk Schnabel, Detlef Bockenhauer, Louise C Wilson, Ian Tully, Sarah Kiff, Patrick Scheerer, Monica Reyes, Sarah Paisdzior, John W Gregory, Jeremy Allgrove, Heiko Krude, Michael Mannstadt, Thomas J Gardella, Mehul Dattani, Harald Jüppner, Annette Grüters
Context: The alpha-subunit of the stimulatory G-protein (Gαs) links numerous receptors to adenylyl cyclase. Gαs, encoded by GNAS, is expressed predominantly from the maternal allele in certain tissues. Thus, maternal heterozygous loss-of-function mutations cause hormonal resistance, as in pseudohypoparathyroidism type Ia, while somatic gain-of-function mutations cause hormone-independent endocrine stimulation, as in McCune-Albright Syndrome. Objective: We here report two unrelated boys presenting with a new combination of clinical findings that suggest both gain and loss of Gαs function...
October 11, 2018: Journal of Clinical Endocrinology and Metabolism
https://read.qxmd.com/read/30108399/allgrove-syndrome-case-report-of-7-years-old-boy-from-bahawalpur
#24
Sumera Akram, Muhammad Ahmed Khan, Abdul Rehman
Allgrove syndrome is a rare autosomal recessive syndrome of unknown prevalence. The first case of Allgrove syndrome was reported in 1978 by Allgrove. It is characterized by triad of achalasia, alacrima and adrenal hypoplasia. There are also associated autonomic and neurological manifestations. We report the case of a 7 years old boy being treated for achalasia cardia, presented with fits and altered sensorium which on further investigations was found to be due to adrenal insensitivity (Raised ACTH level, low Cortisol level, and normal Aldosterone and Renin ratio)...
August 2018: JPMA. the Journal of the Pakistan Medical Association
https://read.qxmd.com/read/29866068/clinical-and-molecular-report-of-c-1331-1g-a-mutation-of-the-aaas-gene-in-a-moroccan-family-with-allgrove-syndrome-a-case-report
#25
H Berrani, T Meskini, M Zerkaoui, H Merhni, S Ettair, A Sefiani, N Mouane
BACKGROUND: Allgrove syndrome is a rare autosomal recessive disorder characterized by the triad of achalasia, alacrimia and adrenal insufficiency. It is caused by the mutations of the AAAS gene located on chromosome 12q13. The c.1331 + 1G > A mutation is one of the most common described in North Africa including Tunisia, Algeria and Libya. We report here the clinical and genetic profile of a Moroccan family with Allgrove syndrome. CASE PRESENTATION: A Moroccan sister and brother born to consanguineous parents were found, at the ages of twelve and fifteen months old respectively, to have alacrimia and isolated glucocorticoid deficiency...
June 4, 2018: BMC Pediatrics
https://read.qxmd.com/read/29492088/aaa-syndrome-case-report-of-a-rare-disease
#26
S Waqar H Shah, Arshad K Butt, K Malik, Altaf Alam, Adnan Shahzad, Anwaar A Khan
Triple A (Allgrove) syndrome, an autosomal recessive disease is characterized by achalasia, alacrimia and ACTH-resistant adrenal failure with progressive neurological syndrome including central, peripheral and autonomic nervous system impairment, and mild mental retardation. The triple A syndrome gene, designated AAAS, localized on chromosome 12q 13 encodes for a 546 amino acid protein called ALADIN (Alacrimia-Achlasia-Adrenal Insufficiency and Neurologic disorder). This report relates to two sisters, aged 8 and 12 years, who had vomiting, muscle weakness, alacrimia, excessive fatigue and dysphagia...
November 2017: Pakistan Journal of Medical Sciences Quarterly
https://read.qxmd.com/read/29383495/per-oral-endoscopic-myotomy-for-esophageal-achalasia-in-a-case-of-allgrove-syndrome
#27
Jun Nakamura, Takuto Hikichi, Haruhiro Inoue, Ko Watanabe, Hitomi Kikuchi, Tadayuki Takagi, Rei Suzuki, Mitsuru Sugimoto, Naoki Konno, Yuichi Waragai, Hiroyuki Asama, Mika Takasumi, Yuki Sato, Hiroki Irie, Katsutoshi Obara, Hiromasa Ohira
Allgrove syndrome, also known as Triple A syndrome, is a rare autosomal recessive genetic disease characterized by three signs: esophageal achalasia, adrenocorticotropic hormone refractoriness, and alacrima. A 31-year-old male presented to our hospital for treatment of difficulty swallowing caused by esophageal achalasia. Because he had complicating alacrima, a neurologic disease, and a family history of consanguineous marriage, a genetic neurologic disease was suspected. Then, a mutation in the achalasia-addisonianism-alacrima syndrome gene was identified...
August 2018: Clinical Journal of Gastroenterology
https://read.qxmd.com/read/29334914/-crying-without-tears-as-an-early-diagnostic-sign-post-of-triple-a-allgrove-syndrome-two-case-reports
#28
Daniel Tibussek, Sujal Ghosh, Angela Huebner, Joerg Schaper, Ertan Mayatepek, Katrin Koehler
BACKGROUND: Triple A syndrome (or Allgrove syndrome) is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal insufficiency and autonomic/neurological abnormalities. The majority of cases are caused by mutations in the AAAS gene located on chromosome 12q13. However, the clinical picture as well as genetic testing may be complex since symptomatology is variable and mutations cannot be identified in all clinically diagnosed patients. We present two unrelated patients with triple-A syndrome illustrating the importance of alacrima as an early clinical sign...
January 15, 2018: BMC Pediatrics
https://read.qxmd.com/read/29237697/triple-a-syndrome-a-wide-spectrum-of-adrenal-dysfunction
#29
Florence Roucher-Boulez, Aude Brac de la Perriere, Aude Jacquez, Delphine Chau, Laurence Guignat, Christophe Vial, Yves Morel, Marc Nicolino, Gerald Raverot, Michel Pugeat
OBJECTIVE: Triple-A or Allgrove syndrome is an autosomal recessive disorder due to mutations in the AAAS gene, which encodes a nucleoporin named ALADIN. It is characterized by a classical clinical triad: alacrima, achalasia and adrenal insufficiency, the canonic symptoms that are associated with progressive peripheral neuropathy. Only a few cohorts have been reported. The objective of the present study was to characterize the various spectra of adrenal function in Triple-A patients. METHODS: A retrospective clinical and biological monitoring of 14 patients (10 families) was done in a single multidisciplinary French center...
March 2018: European Journal of Endocrinology
https://read.qxmd.com/read/28371804/muscle-pathology-as-a-diagnostic-clue-to-allgrove-syndrome
#30
Jens Reimann, Nicolai Kohlschmidt, Karen Tolksdorf, Joachim Weis, Klaus Kuchelmeister, Andreas Roos
Allgrove or triple A syndrome is a rare autosomal recessive disorder that can present with a variable range of multi-system manifestations, including optic atrophy, cerebellar ataxia, upper and lower motoneuron signs and various neuropathic abnormalities. These cases are a diagnostic challenge, particularly when the eponymous combination of achalasia, Addisonianism and alacrima is incomplete. Therefore, it is in the differential diagnosis for multisystem conditions and should be known to pathologists who diagnose disorders of skeletal muscle...
May 1, 2017: Journal of Neuropathology and Experimental Neurology
https://read.qxmd.com/read/27895694/edentulous-child-with-allgrove-syndrome-a-rare-case-report
#31
Mohammad Vahedi, Shima Fathi, Hanif Allahbakhshi
Triple-A syndrome, also known as Allgrove syndrome, is a rare autosomal recessive disorder. The 3 features of this syndrome are achalasia, adrenal insufficiency, and alacrima. Achalasia could be the first manifestation of the triple-A syndrome; however, its etiology is unclear. Alacrima is generally asymptomatic but can be detected by obtaining patient history. Although adrenal insufficiency could have manifestations such as asthenia, it might be wrongly diagnosed as muscle fatigue. Vitamin D and calcium supplements are usually prescribed for the prevention of osteoporosis...
November 2016: Korean Journal of Pediatrics
https://read.qxmd.com/read/27784974/incidence-clinical-features-and-para-clinical-findings-of-achalasia-in-algeria-experience-of-25-years
#32
Amar Tebaibia, Mohammed Amine Boudjella, Djamel Boutarene, Farouk Benmediouni, Hakim Brahimi, Nadia Oumnia
AIM: To investigate the incidence of achalasia in Algeria and to determine its clinical and para-clinical profile. To evaluate the impact of continuing medical education (CME) on the incidence of this disease. METHODS: From 1990 to 2014, 1256 patients with achalasia were enrolled in this prospective study. A campaign of CME on diagnosis involving different regions of the country was conducted between 1999 and 2003. Annual incidence and prevalence were calculated by relating the number of diagnosed cases to 10(5) inhabitants...
October 14, 2016: World Journal of Gastroenterology: WJG
https://read.qxmd.com/read/27698338/alacrima-as-a-harbinger-of-adrenal-insufficiency-in-a-child-with-allgrove-aaa-syndrome
#33
Brande Brown, Levon Agdere, Cornelia Muntean, Karen David
BACKGROUND Allgrove syndrome, or triple "A" syndrome (3A syndrome), is a rare autosomal recessive syndrome with variable phenotype, and an estimated prevalence of 1 per 1,000,000 individuals. Patients usually display the triad of achalasia, alacrima, and adrenocorticotropin (ACTH) insensitive adrenal insufficiency, though the presentation is inconsistent. CASE REPORT Here, the authors report a case of Allgrove syndrome in a pediatric patient with delayed diagnosis in order to raise awareness of this potentially fatal disease as a differential diagnosis of alacrima...
October 4, 2016: American Journal of Case Reports
https://read.qxmd.com/read/27683965/endoscopic-management-of-recurrent-dysphagia-in-a-patient-with-allgrove-syndrome
#34
Thomas R McCarty, Mena Bakhit, Mayra Sanchez, Tarun Rustagi
No abstract text is available yet for this article.
September 28, 2016: Journal of Clinical Gastroenterology
https://read.qxmd.com/read/27682707/severe-malnutrition-causing-superior-mesenteric-artery-syndrome-in-an-adolescent-with-triple-a-syndrome
#35
Christy Foster, Abha Choudhary
Triple A syndrome, formerly known as Allgrove syndrome (AS), is characterized by achalasia, alacrima and adrenal insufficiency. Here we report an adolescent male with adrenal insufficiency who developed severe malnutrition secondary to a delayed diagnosis of achalasia. The severe malnutrition in our patient led to superior mesenteric artery (SMA) obstruction syndrome. Severe malnutrition to the point of SMA syndrome has not been previously described in the literature in Triple A syndrome.
October 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://read.qxmd.com/read/27672286/new-insights-into-the-pathophysiology-of-achalasia-and-implications-for-future-treatment
#36
REVIEW
Janette Furuzawa-Carballeda, Samuel Torres-Landa, Miguel Ángel Valdovinos, Enrique Coss-Adame, Luis A Martín Del Campo, Gonzalo Torres-Villalobos
Idiopathic achalasia is an archetype esophageal motor disorder, causing significant impairment of eating ability and reducing quality of life. The pathophysiological underpinnings of this condition are loss of esophageal peristalsis and insufficient relaxation of the lower esophageal sphincter (LES). The clinical manifestations include dysphagia for both solids and liquids, regurgitation of esophageal contents, retrosternal chest pain, cough, aspiration, weight loss and heartburn. Even though idiopathic achalasia was first described more than 300 years ago, researchers are only now beginning to unravel its complex etiology and molecular pathology...
September 21, 2016: World Journal of Gastroenterology: WJG
https://read.qxmd.com/read/27671188/allgrove-syndrome-adrenal-insufficiency-with-hypertensive-encephalopathy
#37
Sommayya Aftab, Jaida Manzoor, Nabila Talat, Hafiz Sajid Khan, Maroof Subhanie, Nauman Abbas Khalid
Allgrove syndrome or triple-Asyndrome is a rare familial multisystem autosomal recessive disorder. It is characterised by triad of alacrima, achalasia and adrenal insufficiency due to adrenocorticotropin hormone (ACTH) resistance. If it is associated with autonomic dysfunction, it is termed as 4-Asyndrome. This syndrome is caused by a mutation in the Achalasia - Addisonism - Alacrima (AAAS) gene on chromosome 12q13 encoding the nuclear pore protein ALADIN. A5-year boy presented with history of fits and altered sensorium for one day...
September 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://read.qxmd.com/read/27618595/allgrove-syndrome-with-prominent-neurological-symptoms-case-report
#38
Martin Jerie, Zdenek Vojtech, Hana Malikova, Sylva Prochazkova, Zuzana Vackova, Arndt Rolfs
We report a young woman with the clinical picture of Allgrove syndrome in whom neurological symptoms are prominent. It usually presents in the first decade of life with a deficiency of tears, recurrent vomiting and dysphagia due to achalasia, severe hypoglycemic seizures and shock due to adrenal insufficiency. Neurological symptoms such as hyperreflexia, dysarthria, hypernasal speech, ataxia, sensory impairment, muscle weakness, and mental retardation are extremely slow to develop and manifest at a later age...
July 2016: Neuro Endocrinology Letters
https://read.qxmd.com/read/27555148/triple-a-to-triple-s-from-diagnosis-to-anesthetic-management-of-allgrove-syndrome
#39
Mridul Dhar, Nimisha Verma, Ram Badan Singh, Vishal Krishna Pai
INTRODUCTION: Allgrove syndrome (AS) is a rare autosomal recessive disorder characterized by achalasia cardia, alacrimia, and adrenocorticotropic hormone-resistant adrenal insufficiency which is sometimes associated with autonomic dysfunction. It has also been referred to as the triple A syndrome in view of the cardinal symptoms described above. First described by Allgrove et al in 1978, the disorder usually presents mostly during the first decade of life. These patients have the threat of adrenal crisis, shock, and hypoglycemia and are usually on steroid supplementation...
September 2016: Journal of Clinical Anesthesia
https://read.qxmd.com/read/27414811/splicing-defects-in-the-aaas-gene-leading-to-both-exon-skipping-and-partial-intron-retention-in-a-tunisian-patient-with-allgrove-syndrome
#40
Fakhri Kallabi, Bochra Ben Rhouma, Siwar Baklouti, Rania Ghorbel, Rahma Felhi, Leila Keskes, Hassen Kamoun
BACKGROUND/AIMS: Allgrove syndrome is a rare autosomal recessive disorder characterized by the triad of adrenal insufficiency, achalasia, and alacrima. This syndrome is caused by mutations in the AAAS gene. A major splice site mutation c.1331+1G>A was found previously in North African families affected by Allgrove syndrome. In this study, we analyzed in vivo and in silico the effect of this mutation on the splicing process. METHODS: Using reverse transcriptase-polymerase chain reaction, sequencing and bioinformatics tools, we analyzed all transcripts produced by the AAAS gene containing this splice site mutation...
2016: Hormone Research in Pædiatrics
keyword
keyword
128238
2
3
Fetch more papers »
Fetching more papers... Fetching...
Remove bar
Read by QxMD icon Read
×

Save your favorite articles in one place with a free QxMD account.

×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"