At present, the patient is clinically better. [webmedcentral.com]

A5-year boy presented with history of fits and altered sensorium for one day... [readbyqxmd.com]

At physical exam, he presented alacrima. During his hospital admission, plasma ACTH was 2680 pg/mL. [epostersonline.com]

Triple A syndrome should be considered in patients presenting with achalasia. Alacrima should be investigated by a Schirmer test, and adrenal dysfunction should be tested in cases of suspected triple A. [ncbi.nlm.nih.gov]

Here we present an unusual case of Triple A syndrome in whom neurological manifestations preceded adrenal insufficiency. [e-enm.org]

• Developmental Delay

  Reported neurological abnormalities included developmental delay, ataxia and polyneuropathy with sensory, motor and autonomic components, long-tract degeneration, parkinsonism and mild dementia. [ajol.info]

  Affected individuals may also have developmental delay, intellectual disability, speech problems, a small head size, muscle weakness, movement problems, peripheral neuropathy, and optic atrophy. [rarediseases.org]

  Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental [rarediseases.oscar.ncsu.edu]

  We report a 2-8/12 year-old male who presented with symptoms resembling cystic fibrosis (failure to thrive, developmental delay and recurrent diarrhea) and had elevated sweat chloride concentration. [ncbi.nlm.nih.gov]

• Short Stature

  Cases with optic atrophy, microcephaly, skin disorders (hyperkeratosis), short stature and osteoporosis are also presented. This process is due to mutations in the AAAS gene (ADRACALA), located on the long arm of chromosome 12 (12q13). [ivami.com]

  Dermatological abnormalities such as palmoplantar hyperkeratosis as well as other signs like short stature, microcephaly and osteoporosis point to the multisystemic character of the disorder. [doi.org]

  We report a 2-year-old girl who presented with repeated vomiting, short stature and alacrima. Diagnosis of achalasia was made after perfoming esophagogram and endoscopy and was confirmed with esophageal manometry. [synapse.koreamed.org]

  A boy diagnosed with AAAS presented with short stature and increased oxidative stress in vivo assessed by increased thiobarbituric acid reactive substances (TBARS), which are markers of lipid peroxidation, and by the susceptibility of LDL to oxidation [ncbi.nlm.nih.gov]

• Fatigue

  This report relates to two sisters, aged 8 and 12 years, who had vomiting, muscle weakness, alacrimia, excessive fatigue and dysphagia... [readbyqxmd.com]

  We report a 17-year-old boy presented to the endocrine clinic with delayed puberty and a 4-year's history of fatigue and muscle weakness. He had achalasia, alacrima, and skin and mucosal hyperpigmentation. [ncbi.nlm.nih.gov]

  This report describes a 7-year-old boy with a 1 year history of fatigue and muscle weakness. Physical examination showed skin and mucosal hyperpigmentation, and hormonal analysis revealed isolated glucocorticoid function. [casereports.bmj.com]

  The patient reported generalized weakness, fatigue, anorexia recurrent fainting attacks, and progressive hyperpigmentation of the skin for 6 months. Regarding his past history. [endocrine-abstracts.org]

  The main features of Addison disease include fatigue, loss of appetite, weight loss, low blood pressure, and darkening of the skin. The third major feature of triple A syndrome is a reduced or absent ability to secrete tears (alacrima). [ghr.nlm.nih.gov]

• Fever

  In this case report, we report a 17 year-old boy diagnosed as having Allgrove syndrome with predominant symptoms of achalasia and additional features consisting of short neck, long eye lashes, unexplained fever and chills, reduced visual acuity because [endometabol.com]

• Surgical Procedure

  This surgical procedure involves directly cutting the muscles of the spastic sphincter. Both procedures have a risk of esophageal perforation and a high rate of postsurgical reflux. [healthjade.net]

• Dyspnea

  500 m with 2 walking sticks and dyspnea 500 m with 2 walking sticks and dyspnea N 100 m with 1 walking stick and dyspnea Slow walk, dyspnea >500 m with falls and dyspnea No walking, dyspnea Visual problem: keratitis + + – – – + + + – + + + + Dysautonomic [eje.bioscientifica.com]

  On physical examination, the child showed fatigue with pigmentation on her lips, hyperpigmentation on the nose and under the right eye, signs of growth failure (weight: 25.5 kg; height: 133 cm), dyspnea with a respiratory rate of 40–45 breaths per minute [jmedicalcasereports.biomedcentral.com]

  Parents referred a regression in motor and relational skills at the age of 14 months, since when the patient showed repeated episodes of dyspnea, vomiting, and abdominal pains with swallowing difficulties. [hindawi.com]

  […] under the age of 15 years.24 Symptoms of achalasia most often include regurgitation, dysphagia, weight loss, and/or failure to thrive.25 Patients with achalasia may additionally present with pulmonary symptoms, including cough, aspiration, hoarseness, dyspnea [dovepress.com]

• Nasal Voice

  Later hyper-nasal voice, dysarthria and intermittently sinus tachycardia were described. MRI of the cerebrum and orbita showed a slightly enlarged optical nerve on the left side. [omicsonline.org]

  She was noted to have a nasal voice as a child. She underwent a Heller’s cardiomyotomy for achalasia of the cardia aged 24. She first presented to the neurology service 10 years later with paraesthesiae in the right arm and hand. [jnnp.bmj.com]

• Vomiting

  Here we present a case of Triple-A syndrome with recurrent vomiting caused by achalasia as first symptom. At the same time, alacrima was diagnosed. [ncbi.nlm.nih.gov]

  Both presented with repeated attacks of vomiting, alacrima, and lack of weight gain. Barium swallow in both cases showed features of achalasia. The older boy showed biochemical features of adrenal insufficiency as well. [cags.org.ae]

  They were referred to the gastrointestinal ward during a one year period with complaints of vomiting and dysphagia. The diagnosis of triple-A syndrome was confirmed after careful evaluations for vomiting. No record. No record. [sid.ir]

  This report relates to two sisters, aged 8 and 12 years, who had vomiting, muscle weakness, alacrimia, excessive fatigue and dysphagia... [readbyqxmd.com]

  She had history of vomiting after each meal and repeated urinary tract infections. A diagnosis of Allgrove syndrome was made after identification of the triad of achalasia cardia, adrenal insufficiency and alacrimia. [ijaweb.org]

• Regurgitation

  We report on a 14-year old girl with dysphagia, regurgitation, and vomiting since 5 years. At the age of five years an Addison crisis was diagnosed and cortisone substitution was initiated. In addition, the patient had episodes of conjunctivitis. [ncbi.nlm.nih.gov]

  His main presentation was frequent regurgitation, weight loss and failure to thrive. At the age of three, his physical examination revealed an under-developed child with nasal speech. [jfcmonline.com]

  His 10-year-old brother presented with frequent regurgitation, weight loss and failure to thrive. At 4-years of age, he had been diagnosed with achalasia and subjected to open cardiomyotomy. [cags.org.ae]

  […] urticaria) Asthma Allergies to sulfa antibiotics and adhesives Teeth grinding (bruxism) Sleep apnea Difficulty swallowing (dysphagia) Increased heart rate (supraventricular tachycardia) Esophagus damage (achalasia) Heartburn (gastroesophageal reflux) Regurgitation [undiagnosed.hms.harvard.edu]

  These patients are at high risk of regurgitation and aspiration. Antiemetics, antacids and head end elevation are helpful. [ijaweb.org]

• Recurrent Vomiting

  Here we present a case of Triple-A syndrome with recurrent vomiting caused by achalasia as first symptom. At the same time, alacrima was diagnosed. [ncbi.nlm.nih.gov]

  The death of the younger sibling of our patient at the age of 1 year was possibly due to adrenal insufficiency as he had presented with recurrent vomiting and shock. [e-enm.org]

  Recurrent vomiting, poor appetite and failure to thrive had been described by the age of 2 years, misdiagnosed as gastro-esofageal reflux. [ijponline.biomedcentral.com]

  She had history of vomiting after each meal and repeated urinary tract infections. A diagnosis of Allgrove syndrome was made after identification of the triad of achalasia cardia, adrenal insufficiency and alacrimia. [ijaweb.org]

  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. [readbyqxmd.com]

• Diarrhea

  We report a 2-8/12 year-old male who presented with symptoms resembling cystic fibrosis (failure to thrive, developmental delay and recurrent diarrhea) and had elevated sweat chloride concentration. [ncbi.nlm.nih.gov]

  In one Indian published case report [5] a 22-year-old male presented with erectile dysfunction, loss of spontaneous morning erections for six months and nocturnal diarrhea and with recurrent postural dizziness for three months. [webmedcentral.com]

  The first patient was a 6-year-old boy who was admitted to the hospital many times for febrile illness sometimes associated with upper and lower respiratory tract infections, mucopurulent conjunctivitis, bronchospasm, or vomiting and diarrhea. [cags.org.ae]

  He was having irregular bowel movement including nocturnal diarrhea for three months along with recurrent postural dizziness on standing from supine position. [annalsofian.org]

  […] many occasions, and was admitted to the hospital two times, for the treatment of febrile illnesses that were usually associated with mucopurulent conjunctivitis, upper and lower respiratory tract infections, sometimes with bronchospasm, or vomiting and diarrhea [annsaudimed.net]

• Abdominal Pain

  The younger sibling had several episodes of sporadic abdominal pain and vomiting. Their milestones had been normal and they had attained menarche and thelarche normally. [wjgnet.com]

  pain Abdominal distention Kidney inflammation (pyelonephritis) Painful bladder condition (interstitial cystitis) Bladder spasms (spastic/hyperactive bladder) Recurrent urinary tract infections Shrinking bladder Abnormal urine output (slow stream) Urinary [undiagnosed.hms.harvard.edu]

  pains Flat feet Mild concavity of the breastbone In the mosaic form of triple X syndrome, fewer cells have the extra X chromosome, so symptoms and characteristics, when they are present, are more mild. [everydayhealth.com]

  Parents referred a regression in motor and relational skills at the age of 14 months, since when the patient showed repeated episodes of dyspnea, vomiting, and abdominal pains with swallowing difficulties. [hindawi.com]

  Nine months prior to admission to the Beijing Children's Hospital, the patient had a vomiting incident without abdominal pain or regurgitation, which lasted 5–6 days. [spandidos-publications.com]

• Xerostomia

  Conclusion We recommend the investigation of salivation in all patients with triple A syndrome and treatment of xerostomia in order to ease swallowing. [ncbi.nlm.nih.gov]

  It has also been reported dry mouth as a consequence of xerostomia which leads to carious teeth as it is described in Sjögren syndrome [ 23 ]. [hon.ch]

  Dumic M, Mravak-Stipetic M, Kaic Z, Ille J, Plavsic V, Batinica S, Cvitanovic M: Xerostomia in patients with triple A syndrome – a newly recognised finding. Eur J Pediatr 2000;159:885–888. [doi.org]

  Xerostomia in patients with triple A syndrome—a newly recognized finding. Eur J Pediatr 2000; 159:885–888. CrossRef CAS PubMed Google Scholar Khong PL, Peh WC, Low LC et al. Variant of the Triple A syndrome. Australas Radiol 1994; 38:222–224. [link.springer.com]

• Fissured Tongue

  tongue, mild mental retardation, osteoporosis and, rarely, short stature. [genedx.com]

  Patients 1A 1B 2A 2B 3 4A 4B 5A 5B 6 7 8 9 10 Pyramidal syndrome, hyperreflexia + + + – – + + + + + + + + + Bulbar dysfunction  Nasal speech + + + – – + + + + + + + + +  Fissured tongue + + – – – + – + + – + + + + Peripheral neuropathy + + + – – + + + [eje.bioscientifica.com]

  tongue is characteristic of the syndrome.68 Premature tooth loss has been described. [dovepress.com]

• Dental Caries

  A number of other features have been found to be associated with this syndrome, such as xerostomia, dental caries, hyperkeratosis, gait disturbances and delayed puberty [2, 3]. [degruyter.com]

• Orthostatic Hypotension

  Specific autonomic disturbances described in this syndrome include abnormal pupillary reflexes, poor heart rate variability, and orthostatic hypotension. [rarediseases.org]

  There may also be signs of autonomic dysfunction with AAA, such as pupillary abnormalities, an abnormal reaction to intradermal histamine, abnormal sweating, orthostatic hypotension, and disturbances of the heart rate. [5] Hypoglycemia (low blood sugar [ipfs.io]

  hypotension with compensatory tachycardia, muscle weakness, ataxia, parkinsonism, and motor peripheral neuropathy. [genedx.com]

  She had signs of peripheral neuropathy and had episodes of fainting and suspected orthostatic hypotension. [degruyter.com]

• Osteoporosis

  Considering ubiquitous ALADIN expression, low BMD/osteoporosis may be a primary phenotypic feature of the disease. [ncbi.nlm.nih.gov]

  Cases with optic atrophy, microcephaly, skin disorders (hyperkeratosis), short stature and osteoporosis are also presented. This process is due to mutations in the AAAS gene (ADRACALA), located on the long arm of chromosome 12 (12q13). [ivami.com]

  Dermatological abnormalities such as palmoplantar hyperkeratosis as well as other signs like short stature, microcephaly and osteoporosis point to the multisystemic character of the disorder. [doi.org]

  […] several additional clinical concerns, such as progressive peripheral and/or autonomic neuropathy, punctate palmoplantar keratoderma (patches of callused skin on palms and soles), dry mouth, angular cheilitis and fissured tongue, mild mental retardation, osteoporosis [genedx.com]

• Muscle Weakness

  Affected individuals may also have developmental delay, intellectual disability, speech problems, a small head size, muscle weakness, movement problems, peripheral neuropathy, and optic atrophy. [rarediseases.org]

  This report relates to two sisters, aged 8 and 12 years, who had vomiting, muscle weakness, alacrimia, excessive fatigue and dysphagia... [readbyqxmd.com]

  We present a 28 year-old woman with classical systemic features of triple A syndrome with prominent neurological dysfunctions/deficits, including distal muscular atrophy, progressive muscle weakness and wasting of both legs, sensibility dysfunction, hyperreflexia [ncbi.nlm.nih.gov]

• Muscular Atrophy

  Different degrees of muscular atrophy may also be found at the time of diagnosis [ 2, 5, 23 ]. [hon.ch]

  We report a 22-year-old female who presented with distal muscular atrophy and weakness in all limbs for two years. Reflexes were symmetrically brisk and electrodiagnostic studies were consistent with upper and lower motor neuron involvement. [ncbi.nlm.nih.gov]

  In a series of eight patients from France all showed features of peripheral neuropathy. [3] Other neurological features described in various studies include cognitive deficits, pyramidal syndrome, distal muscular atrophy, hyperreflexia, cerebellar dysfunction [annalsofian.org]

• Anisocoria

  Author Sex Adrenal Neurological Associated deficiency abnormalities pathology Allgrove M Glucocorticoid No Hyperkeratosis of the (1978) [2] palms and soles, palm creases M Glucocorticoid No Episodic anisocoria, palm creases F Glucocorticoid No Enlargement [hon.ch]

  The pattern and severity of neurologic and autonomic dysfunction in Triple-A syndrome is quite variable, including hyperreflexia, impaired visual evoked potentials, optic nerve atrophy, anisocoria (unequal pupil size), abnormal sweating, postural (orthostatic [genedx.com]

  People with triple A syndrome often experience abnormal sweating, difficulty regulating blood pressure, unequal pupil size (anisocoria), and other signs and symptoms of autonomic nervous system dysfunction (dysautonomia). [ghr.nlm.nih.gov]

  Anisocoria Unequal pupil size, Unequal pupil dilatation, Asymmetry of the pupils, Asymmetric pupil sizes [more] Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease. [rarediseases.oscar.ncsu.edu]

• Decreased Lacrimation

  Schirmer’s test confirmed decreased lacrimation. Both were noted to have bilateral temporal pallor of optic discs. Hemogram showed iron deficiency anemia in both sisters. Biochemical tests and chest X ray were normal. [wjgnet.com]

  The presence of alacrima and achalasia could be caused by disordered autonomic (parasympathetic) innervation of the esophagus and lacrimal glands [ 1, 24, 26 ]. CT scans may show absent or decreased lacrimal gland tissue [ 21 ]. [hon.ch]

  MRI showed small lacrimal glands bilaterally. [bmcophthalmol.biomedcentral.com]

• Hyperpigmentation

  It is caused by mutations in AAAS gene which encodes a protein called ALADIN. 8-year-old boy who presented with hypoglycemic seizures, dysphagia, dry eyes and hyperpigmentation. Investigations confirmed achalasia cardia and adrenal insufficiency. [ncbi.nlm.nih.gov]

  She had mild, diffuse hyperpigmentation of the skin, and more severe hyperpigmentation in the lips, gums, buccal mucosa, creases of the palms, and elbows. [cags.org.ae]

  When he was five years old, he was referred for a dermatological evaluation of diffuse hyperpigmentation. The change in skin color was attributed to an unspecified postinflammatory process. [annsaudimed.net]

  The patient reported generalised weakness, asthenia, fatigue, anorexia and progressive hyperpigmentation of skin for 6 months. [e-enm.org]

  substernal intercostal retractions, hyperpigmentation on genitals, digital clubbing, and hyperkeratosis on the palms and soles. [jmedicalcasereports.biomedcentral.com]

• Abnormal Sweating

  There may also be signs of autonomic dysfunction with AAA, such as pupillary abnormalities, an abnormal reaction to intradermal histamine, abnormal sweating, orthostatic hypotension, and disturbances of the heart rate. [5] Hypoglycemia (low blood sugar [ipfs.io]

  The pattern and severity of neurologic and autonomic dysfunction in Triple-A syndrome is quite variable, including hyperreflexia, impaired visual evoked potentials, optic nerve atrophy, anisocoria (unequal pupil size), abnormal sweating, postural (orthostatic [genedx.com]

  There may also be signs of autonomic dysfunction with AAA, such as pupillary abnormalities, an abnormal reaction to intradermal histamine, abnormal sweating, orthostatic hypotension, and disturbances of the heart rate.Hypoglycemia (low blood sugar) is [rareconnect.org]

  People with triple A syndrome often experience abnormal sweating, difficulty regulating blood pressure, unequal pupil size (anisocoria), and other signs and symptoms of autonomic nervous system dysfunction (dysautonomia). [ghr.nlm.nih.gov]

  There may also signs of autonomic dysfunction with AAA, such as pupillary abnormalities, an abnormal reaction to intradermal histamine, abnormal sweating, orthostatic hypotension, and disturbances of the heart rate.[3] Genetics Achalasia-addisonian syndrome [wikidoc.org]

• Ulcer

  Alacrimia, absence of protective corneal reflexes and reduced tear production under general anaesthesia can lead to keratopathy and corneal ulceration. [ijaweb.org]

  This leads to severe keratopathy and corneal melting (dehydration-induced ulceration). Achalasia leading to frequent vomiting or regurgitation also commonly occurs and may lead to growth failure. [emedicine.medscape.com]

  If left untreated, alacrima may lead to keratopathy and corneal ulceration.19 As such, monitoring by an ophthalmologist with visual acuity assessment, ocular surface study, tonometry, and fundus examination is recommended at least yearly.39 While 3A syndrome [dovepress.com]

  […] identified 3 reports of chordomas found in patients with tuberous sclerosis complex” 15236319 Granulomatous disease, cronic, x-linked #306400 Granulomatous disease, cronic, autosomal recessive #233710 TP: Two forms and loci of Granulomatous disease OMIM Ulcerative [cbs.dtu.dk]

• Hyperhidrosis

  Aged 37 she complained of gait disturbance, posturally induced presyncope, and regional hyperhidrosis and was re-investigated at a neurological centre. [jnnp.bmj.com]

  Hyperhidrosis Profuse sweating, Excessive sweating, Sweating, Increased sweating, Sweating profusely, Diaphoresis [more] Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. [rarediseases.oscar.ncsu.edu]

• Palmoplantar Keratosis

  The affected siblings had iron deficiency anemia and the younger sister had pes cavus and palmoplantar keratosis. Neurological symptoms were absent in both affected children. [wjgnet.com]

• Seizure

  CASE This is a 4 year old Caucasian male with severe hypoglycemia associated with seizures refractory to treatment. He presented with past medical history of 1 seizure episode associated with hypoglycemia as well 9 months prior. [epostersonline.com]

  It is caused by mutations in AAAS gene which encodes a protein called ALADIN. 8-year-old boy who presented with hypoglycemic seizures, dysphagia, dry eyes and hyperpigmentation. Investigations confirmed achalasia cardia and adrenal insufficiency. [ncbi.nlm.nih.gov]

  Case report An 8-year-old boy born to non-consanguineous parents presented to us with generalized tonic clonic seizure that lasted for more than 20 minutes. [indianpediatrics.net]

  Symptoms and Signs Most cases present classic symptoms of primary adrenal sufficiency, which includes hypoglycemic seizures and shock. [medigest.uk]

  Adrenal insufficiency may cause hypoglycemia and seizures. [orpha.net]

• Hyperreflexia

  We present a 28 year-old woman with classical systemic features of triple A syndrome with prominent neurological dysfunctions/deficits, including distal muscular atrophy, progressive muscle weakness and wasting of both legs, sensibility dysfunction, hyperreflexia [ncbi.nlm.nih.gov]

  The pattern and severity of neurologic and autonomic dysfunction in Triple-A syndrome is quite variable, including hyperreflexia, impaired visual evoked potentials, optic nerve atrophy, anisocoria (unequal pupil size), abnormal sweating, postural (orthostatic [genedx.com]

  Most patients (72.8%) display neurological impairment, most frequently distal muscular weakness, hyperreflexia, nasal speech, and autonomic dysfunction. [abstracts.eurospe.org]

  Neurological examination was normal except for bilateral hyperreflexia without clonus. His performance at school was reported to be satisfactory. Blood hemoglobin was 10.3 g/dL, and hematocrit was 33%. [annsaudimed.net]

• Dysarthria

  This condition begins to manifest during the first decade of life with episodes of severe hypoglycemia and is associated with neurological disorders such as motor or sensory autonomic or peripheral neuropathy, dementia, mental retardation, ataxia and dysarthria [ivami.com]

  On neurologic examination she showed symmetric four-limb amyotrophy, predominantly distal, upper motor neuron signs, bulbar dysarthria and swallowing difficulties. [n.neurology.org]

  Currently he remains ambulant but has developed dysarthria and refractory orthostatic hypotension. On examination he had dysmorphic facial features with dysarthria and nasal speech. [jnnp.bmj.com]

  People with this condition may have other neurological abnormalities, such as developmental delay, intellectual disability, speech problems (dysarthria), and a small head size (microcephaly). [ghr.nlm.nih.gov]

  Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. [rarediseases.oscar.ncsu.edu]

• Cerebellar Ataxia

  Neurologic manifestations of the disease include motor neuron disease-like presentations, motor-sensory or autonomic neuropathy, optic atrophy, cerebellar ataxia, Parkinsonism, and mild dementia. [ncbi.nlm.nih.gov]

  Neurological manifestations of the disease included motor neuron disease like presentations, motor-sensory or autonomic neuropathy, optic atrophy, cerebellar ataxia, Parkinsonism and mild dementia. [webmedcentral.com]

  Ataxia (WES based NGS panel for 143 genes) Movement diseases (WES based NGS panel for 905 genes) Mental retardation (WES based NGS panel for 1500 genes) [cgcgenetics.com]

• Babinski Sign

  […] system physiology 0012332 Abnormality of visual evoked potentials 0000649 Adrenocorticotropin receptor defect 0008259 Anisocoria Asymmetric pupil sizes Asymmetry of the pupils Unequal pupil size [ more ] 0009916 Autosomal recessive inheritance 0000007 Babinski [rarediseases.info.nih.gov]

  Physical examination was remarkable for a fissured, dry tongue; palmar and plantar keratosis; +4 upper- and lower-extremity reflexes; 3–4 beats of lower-extremity clonus; a positive Babinski sign; and ataxic responses to tandem gait and finger-to-nose [bmcophthalmol.biomedcentral.com]

  The patient was negative for meningism and positive for the Babinski sign on the right side. No abnormal gait was observed. [spandidos-publications.com]

  The signs and symptoms of this condition vary among affected individuals, even among members of the same family. [malacards.org]

[…] part of the differentials in cases of early neurological dysfunction and developmental delay and assessment of adrenal function should be performed.51,57 Patients with an incomplete triad and early neurologic manifestations often undergo an extensive workup [dovepress.com]

Full text links Group 7SearchHeart failure treatmentPapersTopicsCollectionsEffects of Sodium-Glucose Cotransporter 2 Inhibitors for the Treatment of Patients With Heart Failure Importance: Only 1 class of glucose-lowering agents-sodium-glucose cotransporter [read.qxmd.com]

The treatment of triple A syndrome requires the treatment of each of the triad. Alacrimia is treated with artificial tears. Hydrocortisone is the drug of choice for the treatment of adrenal insufficiency in glucocorticoid replacement therapy. [jmedicalcasereports.biomedcentral.com]

CASE This is a 4 year old Caucasian male with severe hypoglycemia associated with seizures refractory to treatment. He presented with past medical history of 1 seizure episode associated with hypoglycemia as well 9 months prior. [epostersonline.com]

Management and treatment Treatment for Triple A syndrome includes hydrocortisone substitutive therapy, esophageal dilatation or myotomy of the lower esophageal sphincter and artificial tear drops. Management of neurological features is symptomatic. [orpha.net]

Prognosis If untreated, triple A syndrome may have a high morbidity and prognosis can be severe. The appropriate management of the disease ameliorates the prognosis significantly. [orpha.net]

Natural History Achalasia-addisonian syndrome is a progressive disorder that can take years to develop the full blown clinical picture.[8] Prognosis The syndrome is highly variable. [wikidoc.org]

It is still more infrequent when associated with adrenal insufficiency and alacrima, a disorder known as Allgrove's syndrome, the etiology of which remains unclear. [ncbi.nlm.nih.gov]

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... [readbyqxmd.com]

Etiology The disease is caused by mutations in the AAAS gene (12q13), coding for the ALADIN nuclear pore scaffolding protein. Diagnostic methods Diagnosis is based on clinical examination and adrenal function testing. [orpha.net]

Summary Epidemiology Prevalence is unknown but less than 100 cases have been published since the first description in 1978. Clinical description The onset of Triple A syndrome varies between infancy and adulthood. [orpha.net]

However, the pathophysiology of achalasia in Allgrove's syndrome remains obscure. Here we investigated the histopathology of the cardia in Allgrove's syndrome. [ncbi.nlm.nih.gov]

Pathophysiology Individuals affected by AAA have adrenal insufficiency due to ACTH resistance, alacrima (absence of tear secretion), and achalasia (a failure of a ring of muscle fibers, such as a sphincter, to relax) of the lower esophageal sphincter [wikidoc.org]

TFOS DEWS II pathophysiology report 18. Lifting the lid on dry eye practice – part 5: quantity, quality or both? 19. [cdnsciencepub.com]

The pathophysiological underpinnings of this condition are loss of esophageal peristalsis and insufficient relaxation of the lower esophageal sphincter (LES). [readbyqxmd.com]

Mutations in the AAAS gene prevent this protein from reaching its proper location in the cell, which may disrupt the movement of molecules. [checkorphan.org]

These mutations change the structure ALADIN in different ways; However, almost all mutations prevent this protein reaches its correct location on the nuclear envelope. [ivami.com]

The long-term effect of antioxidant treatment should be evaluated to determine the real benefit for the prevention of the degenerative process in AAAS. [ncbi.nlm.nih.gov]

The longterm effect of antioxidant treatment should be evaluated to determine the real benefit for the prevention of the degenerative process in AAAS. [tud.qucosa.de]