Mohamed I. Abstract This report concerns two brothers aged 10 and 18 years with long-standing dysphagia that started at age three and six years respectively. They had been diagnosed as achalasia and treated accordingly. The appearance of additional symptoms and clinical signs required further investigations including abdominal sonography, esophago-gastroduodenoscopy, barium swallow, esophageal manometry, computerized tomography CT of abdomen and brain, biochemical profiles, and neurologic and ophthalmic evaluations.

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Conflict of interest: No conflict of interest was reported. Received Oct 7; Accepted Oct Neurologic features are varied and have been the subject of several case reports and reviews. A few cases of Allgrove syndrome with motor neuron disease have been already described.

A year-old white man, at the age of four, presented slowly progressive distal amyotrophy and weakness, autonomic dysfunction, dysphagia and lack of tears. He suffered later of orthostatic hypotension and erectile dysfunction. He presented distal amytrophy in four limbs, tongue myofasiculations, alacrimia, hoarseness and dysphagia due to achalasia.

The ENMG showed generalized denervation with normal conduction velocities. Genetic testing revealed 2 known pathogenic variants in the AAAS gene c. Our case presented a distal spinal amyotrophy with slow evolution and symptoms and signs of AS with a mutation in AAAS gen. Some cases of motor neuron disease, as ours, may be due to AAS. Early diagnosis is extremely important for symptomatic treatment. Three of these individuals also had defective tear production, leading the authors to speculate that the combination of adrenal deficiency, achalasia, and alacrimia represented an inherited familial disorder.

The authors also referred to the prior publications of Kelch et al. Allgrove pointed out that these patients developed achalasia and suggested that all of the patients shared a common syndrome. It is a rare disease and inherited as an autosomal recessive trait. The protean presentation of this disorder is related to dysfunction of nuclear pore complexes NPC , despite apparently normal structure of these large multiprotein assemblies.

The most commonly described abnormal features of the neurologic examination are hyperreflexia, dysarthria, hypernasal speech with palatopharyngeal incompetence, and ataxia. Case Report A year-old white man, the only child of non-consanguineous parents, student, reported that with four years old he had noticed mild weakness and amyotrophy of hands and feet. He said never presenting tears and five years ago he referred change in timbre of his voice as well as difficulty in speech and deglutition.

The neurologic examination showed atrophy and paresis MRC 4 of the intrinsic of the hands and orsal flexor of feet, tongue fasciculations and atrophy Figure 1. The deep reflexes were abolished in the lower limbs and normal in upper limbs. Superficial and deep sensitivity are normal. The tongue was atrophic with fasciculation. There were orthostatic hypotension and increased heart rate.

Electroneuromyography showed generalized denervation with normal sensory and motor conduction. Alacrimia was reported by his mother and later confirmedin Schimmer below 1 mm test. The biomicroscopy tests with fluoresce in and green his amy revealed: keratoconjunctivitis sicca, keratitis and accumulation of mucus on the corneal surface without impregnation by green his amy and absence of tears. Oesophageal manometry was characterized by normal basal pressure in lower sphincter with incomplete relaxation, absence of peristalsis in swallowing in the oesophageal body achalasia.

Gastricoesophageal junction showed diaphragmatic clamping with slight resistance to the passage of the apparatus in the presentation. The blood and the endocrine tests were normal: cortisol, The patient underwent whole exome sequencing and two known pathogenic variants in the AAAS gene were found.

The first c. The second variant c.


Allgrove syndrome and motor neuron disease

Description Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima. Achalasia is a disorder that affects the ability to move food through the esophagus , the tube that carries food from the throat to the stomach. It can lead to severe feeding difficulties and low blood sugar hypoglycemia. Addison disease, also known as primary adrenal insufficiency, is caused by abnormal function of the small hormone-producing glands on top of each kidney adrenal glands. The main features of Addison disease include fatigue, loss of appetite, weight loss, low blood pressure, and darkening of the skin.





Triple-A syndrome



Allgrove Syndrome


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