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]

Family Membership is open to those affected by a Rare Chromosome Disorder or certain Autosomal Dominant Single Gene Disorders causing as a minimum learning disability/developmental delay, among other symptoms. [rarechromo.org]

These patients suffer from achalasia, alacrima, short stature, developmental delay, seizures, and cerebral atrophy, but also lack adrenal insufficiency. The protein product seems to be important for an intact Golgi apparatus. [abstracts.eurospe.org]

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

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]

Other features such as palmoplantar hyperkeratosis, short stature, facial dysmorphy and osteoporosis may also be present. [uniprot.org]

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]

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]

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

CASE REPORT A seventeen year old young lady presented along with her fifteen year old younger sister with identical symptoms of dysphagia, excessive fatigue and skin pigmentation. [wjgnet.com]

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]

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]

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 syndromes  Orthostatic [eje.bioscientifica.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]

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]

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]

Patient 3 A female patient, aged 4 years and 4 months, was admitted to the hospital with a 3-year history of vomiting small amounts following every meal. No obvious causes of the vomiting were identified. [spandidos-publications.com]

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]

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]

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

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]

[…] 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]

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]

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]

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]

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]

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]

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]

hypotension with compensatory tachycardia, muscle weakness, ataxia, parkinsonism, and motor peripheral neuropathy. [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. [5] Hypoglycemia (low blood sugar [ipfs.io]

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

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]

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]

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]

Finally, 3A syndrome is sometimes confused with Sjogren symptom when the presenting symptoms are alacrima and xerostomia (see the section “Oral Health”). [dovepress.com]

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 – –  Sensory impairment, distal hypoesthesia – – – –  Motor impairment and Muscle [eje.bioscientifica.com]

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

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]

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

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]

Other features such as palmoplantar hyperkeratosis, short stature, facial dysmorphy and osteoporosis may also be present. [uniprot.org]

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]

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

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]

Later on, at the age of 20 years, a bone age delay of 6 years and severe osteoporosis was diagnosed. [ncbi.nlm.nih.gov]

Reevaluation 5-35 years after introduction of 12 mg/m(2)/day hydrocortisone showed low BMD for age in two children, osteopenia in one, and osteoporosis in six adults. [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]

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]

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]

Respiratory insufficiency Sensorineural hearing impairment In addition to the above-mentioned, the following signs and symptoms may be present in some affected individuals: Abnormality of visual evoked potentials Adrenocorticotropin receptor defect Anisocoria [dovemed.com]

Although severe, many of these symptoms presented in all six young adult patients are often overlooked or neglected: postural hypotension with blurred vision and syncope, hyposalivation resulting with complete edentulosis, talocrular contractures with [ncbi.nlm.nih.gov]

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]

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]

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. [5] Hypoglycemia (low blood sugar [ipfs.io]

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]

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

He had persistent autonomic dysfunction symptoms in the form of erectile dysfunction, bowel irregularity, gustatory sweating, decreased sweating and postural hypotension, palpitation even after full steroid replacement. [annalsofian.org]

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]

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 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]

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]

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]

sign Decreased circulating aldosterone level Decreased circulating cortisol level Dysarthria Dysautonomia Hyperpigmentation of the skin Intellectual disability Motor axonal neuropathy Orthostatic hypotension Palmoplantar hyperkeratosis (Sou rce: Triple [dovemed.com]

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]

sign 31 HP:0003487 29 decreased circulating aldosterone level 31 HP:0004319 30 decreased circulating cortisol level 31 HP:0008163 31 hyperpigmentation of the skin 31 HP:0000953 32 alacrima 31 HP:0000522 33 orthostatic hypotension 31 HP:0001278 34 abnormal [malacards.org]

No abnormal gait was observed. The electroencephalograms (EEGs), brain MRI scan and evoked potential and nerve conduction studies showed no specific abnormalities. Esophagography showed achalasia of the lower esophagus at the cardia ( Fig. 1C ). [spandidos-publications.com]

Neurological examinations at age 60 revealed limb muscle wasting and weakness with pyramidal tract signs, distal-dominant sensory disturbance, optic atrophy, and autonomic dysfunction. Alacrima was detected using Schirmer test. [ncbi.nlm.nih.gov]