esophageal achalasia/seizures

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Partial trisomy 1p (1p36.22-->pter) and partial monosomy 9p (9p22.2-->pter) associated with achalasia, flexion deformity of the fingers and epilepsy in a girl.

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We report on a 12-year-old girl presenting with mental retardation, trigonocephaly, midface hypoplasia, upward-slanting palpebral fissures, arched eyebrows, bilateral epicanthal folds, hypertelorism, a flattened nasal bridge, a short nose, anteverted nares, a long philtrum, a small mouth,

Assessment of pediatric cricopharyngeal achalasia with high resolution manometry.

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Boybeyi Türer Ö, Demir N, Ciecieraga T, Günaydın RÖ, Soyer T. Assessment of pediatric cricopharyngeal achalasia with high resolution manometry. Turk J Pediatr 2019; 61: 804-809. Cricopharyngeal achalasia (CPA) is an uncommon cause of oropharyngeal dysphagia (OPD) which is the failure of upper

A broad range of symptoms in allgrove syndrome: single center experience in Southeast Anatolia.

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Allgrove syndrome (OMIM 231550) is a rare autosomal recessive disease characterized by non-CAH primary adrenal insufficiency (non-CAH PAI), alacrima, and achalasia. It is caused by mutations in the AAAS gene. The syndrome is also associated with variable progressive neurological

Case report of a familial triple: a syndrome and review of the literature

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Rationale: Triple-A syndrome, or Allgrove syndrome (AS), is a rare autosomal recessive disorder characterized by the alacrimia, achalasia, and adrenal insufficiency triad. Alacrimia usually starts at early infancy, while achalasia and adrenal insufficiency appear

Pneumonia after intracranial surgery in dogs.

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OBJECTIVE To determine factors associated with the occurrence of pneumonia after intracranial surgery in dogs. METHODS Retrospective cohort study. Animals-Forty-nine client-owned dogs. METHODS The medical records of 49 dogs with space-occupying intracranial disease that underwent craniotomy were

A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.

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GMPPA encodes the GDP-mannose pyrophosphorylase A protein (GMPPA). The function of GMPPA is not well defined, however it is a homolog of GMPPB which catalyzes the reaction that converts mannose-1-phosphate and guanosine-5'-triphosphate to GDP-mannose. Previously, biallelic mutations in GMPPA were

Thallium toxicosis in a dog consequent to ingestion of Mycoplasma agar plates.

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A 1-year-old dog ingested a mixture of blood agar and Mycoplasma agar plates. The Mycoplasma agar plates contained thallium acetate, which resulted in an estimated minimum dose of 5 mg thallium acetate/kg bodyweight. Clinical signs over the course of 2-3 weeks included vomiting, diarrhea, weight

Novel Mutations in a Patient with Triple A Syndrome.

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BACKGROUND Triple A syndrome (Allgrove syndrome), a rare autosomal recessive disorder, is characterized by adrenal insufficiency, achalasia cardia and alacrimia. It is caused by mutations in AAAS gene which encodes a protein called ALADIN. METHODS 8-year-old boy who presented with hypoglycemic

Allgrove syndrome with prominent neurological symptoms. Case Report.

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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

The use of topical cyclosporine A 0.05% as treatment for primary alacrimia in Allgrove syndrome

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Introduction: The purpose is to report a case on the use of cyclosporine A 0.05% for primary alacrimia in Allgrove syndrome or triple A syndrome (alacrimia, achalasia, and adrenal insufficiency). Case

Ruxolitinib cream for treatment of vitiligo: a randomised, controlled, phase 2 trial
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Background: Vitiligo is a chronic autoimmune disease resulting in skin depigmentation and reduced quality of life. There is no approved treatment for vitiligo repigmentation and current off-label therapies have limited efficacy,

Clinical heterogeneity and molecular profile of triple A syndrome: a study of seven cases.
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Background Triple A syndrome is characterized by achalasia, alacrima and adrenal insufficiency with neurological manifestations occurring later in the course of the disease. It occurs due to biallelic mutations in the AAAS gene which codes for the nuclear pore protein ALADIN. A number of other

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