227 results match your criteria Alacrima


Congenital unilateral absence of the lacrimal gland combined with lipoma. A rare case of unilateral congenital alacrima.

Arch Soc Esp Oftalmol 2020 Jun 26. Epub 2020 Jun 26.

Servicio de Oftalmología, Hospital Marina Baixa, Villajoyosa, Alicante, España.

The purpose of this report is to describe a case of a unilateral congenital absence of the lacrimal gland in a 7-year-old girl with ocular symptoms, no tear production and a conjunctival tumour at the supero-external angle of the right eye. The visual acuity was 20/20 in both the eyes. The right eye showed mucous secretion, corneal erosions and filaments. Read More

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http://dx.doi.org/10.1016/j.oftal.2020.05.027DOI Listing

New Onset Alacrima as a Presenting Feature of a Skull Base Chondrosarcoma.

Ophthalmic Plast Reconstr Surg 2020 May 14. Epub 2020 May 14.

Department of Ophthalmology, Sussex Eye Hospital, Brighton and Sussex Foundation NHS Trust, Brighton, United Kingdom.

Acquired unilateral alacrima as a presenting sign of an intracranial tumor is exceptionally rare, and only described once previously in a case of nasopharyngeal carcinoma. The authors present a 32-year-old female patient who presents with a year-long history of alacrima and arhinorrhea. She was subsequently diagnosed with a petroclival chondrosarcoma extending into Meckel's cave and the cavernous sinus and underwent surgical debulking. Read More

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http://dx.doi.org/10.1097/IOP.0000000000001683DOI Listing

NGLY1 deficiency-A rare congenital disorder of deglycosylation.

JIMD Rep 2020 May 10;53(1):2-9. Epub 2020 Apr 10.

Metabolic Diseases Unit, Pediatric Department, Santa Maria's Hospital - Lisbon North University Hospital Center EPE, Pediatric University Clinic, Faculty of Medicine, University of Lisbon Lisbon Portugal.

Pathogenic variants in the NGLY1 gene are associated with a Congenital Disorder of Deglycosylation (CDDG) characterized by delays in reaching developmental milestones, complex hyperkinetic movement disorder, transient elevation of transaminases, and alacrima or hypolacrima. To date, only few cases of NGLY1 deficiency have been identified and reported in the literature. This report highlights a first child of non-consanguineous parents with no relevant family history who presented with hypotonia and poor weight gain since birth. Read More

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http://dx.doi.org/10.1002/jmd2.12108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203651PMC

Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations.

Am J Med Genet A 2020 06 10;182(6):1426-1437. Epub 2020 Apr 10.

Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, Texas, USA.

Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) is an autosomal dominant neurodevelopmental disorder caused by loss-of-function variants in NR2F1 and characterized by visual impairment, developmental delay, and intellectual disability. Here we report 18 new cases, provide additional clinical information for 9 previously reported individuals, and review an additional 27 published cases to present a total of 54 patients. Among these are 22 individuals with point mutations or in-frame deletions in the DNA-binding domain (DBD), and 32 individuals with other types of variants including whole-gene deletions, nonsense and frameshift variants, and point mutations outside the DBD. Read More

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http://dx.doi.org/10.1002/ajmg.a.61580DOI Listing

Ngly1 -/- rats develop neurodegenerative phenotypes and pathological abnormalities in their peripheral and central nervous systems.

Hum Mol Genet 2020 Jun;29(10):1635-1647

Takeda-CiRA Joint Program (T-CiRA), Kanagawa 2518555, Japan.

N-glycanase 1 (NGLY1) deficiency, an autosomal recessive disease caused by mutations in the NGLY1 gene, is characterized by developmental delay, hypolacrima or alacrima, seizure, intellectual disability, movement disorders and other neurological phenotypes. Because of few animal models that recapitulate these clinical signatures, the mechanisms of the onset of the disease and its progression are poorly understood, and the development of therapies is hindered. In this study, we generated the systemic Ngly1-deficient rodent model, Ngly1-/- rats, which showed developmental delay, movement disorder, somatosensory impairment and scoliosis. Read More

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http://dx.doi.org/10.1093/hmg/ddaa059DOI Listing

Allgrove Syndrome: A Report of New Pathological Variants in the AAAS Gene.

Cornea 2020 Jun;39(6):782-783

Department of Ophthalmology, Centre Hospitalier Universaite Sainte-Justine, Montreal, QC, Canada.

Purpose: To report 2 novel variants in the AAAS gene consistent with the diagnosis of Allgrove syndrome.

Methods: A 12-year-old girl was referred to our clinic for progressive bilateral decrease in visual acuity. She was known for achalasia that had been surgically treated at a very early age. Read More

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http://dx.doi.org/10.1097/ICO.0000000000002287DOI Listing

NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm.

JIMD Rep 2020 Jan 30;51(1):82-88. Epub 2020 Jan 30.

Department of Pediatrics, Nutrition and Metabolic Diseases The Children's Memorial Health Institute Warsaw Poland.

Objectives: Together with the lysosomal storage diseases, NGLY1 deficiency is a congenital disorder of deglycosylation (NGLY1-CDDG). Since the first report in 2012, 26 patients have been described. All but one were diagnosed by exome or genome sequencing; the remaining one was identified by finding an increased concentration of an urinary marker. Read More

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http://dx.doi.org/10.1002/jmd2.12086DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7012742PMC
January 2020

CLINICAL COURSE OF A UNIQUE CASE OF ALLGROVE SYNDROME AND CHALLENGES OF HYPOGLYCEMIA MANAGEMENT.

AACE Clin Case Rep 2019 Nov-Dec;5(6):e357-e361. Epub 2019 Aug 15.

Objective: Allgrove syndrome (AS), also known as triple-A syndrome, is a rare disorder characterized by alacrima, achalasia, adrenal insufficiency, and other manifestations such as problems related to growth, puberty, and neuropsychological development. Although the genetics of this disorder have been studied extensively in recent decades, clinical information is still lacking.

Methods: We present a unique case of AS from which we have gained significant insight into its clinical course, especially the management of hypoglycemia. Read More

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http://dx.doi.org/10.4158/ACCR-2019-0210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6873850PMC

Two novel truncating variants of the AAAS gene causative of the triple A syndrome.

J Endocrinol Invest 2020 Jul 14;43(7):973-982. Epub 2020 Jan 14.

Dipartimento di Scienze Cliniche e di Comunità, Division of Endocrine and Metabolic Diseases and Lab. of Endocrine and Metabolic Research, Dipartimento di Medicina Endocrino-Metabolica, Università degli studi di Milano, IRCCS Istituto Auxologico Italiano, Piazzale Brescia 20, 20149, Milano, Italy.

Purpose: The triple A syndrome (AAAS) is an inherited condition associated with mutations in the AAAS gene, which encodes a protein of 546 amino acids known as ALADIN (alacrima achalasia adrenal insufficiency neurologic disorder) whose function is not well understood. This protein belongs to the WD-repeat family of regulatory proteins and is located in the nuclear pore complexes. Only a few cohorts of AAAS patients have been reported and fully characterized. Read More

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http://dx.doi.org/10.1007/s40618-020-01180-1DOI Listing

Evidence of GMPPA founder mutation in indigenous Guatemalan population associated with alacrima, achalasia, and mental retardation syndrome.

Am J Med Genet A 2020 03 3;182(3):425-430. Epub 2020 Jan 3.

Rare Disease Institute, Children's National Health System, Washington, District of Columbia.

Congenital disorders of glycosylation (CDG) are a heterogeneous group of inborn errors of metabolism mostly causing multisystem disease. In 2013, biallelic mutations in the GMPPA gene were described in association with one such CDG known as alacrima, achalasia, and mental retardation syndrome (AAMR). To date, 18 patients have been reported, nearly all displaying the same pathognomonic triad of symptoms described in the name. Read More

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http://dx.doi.org/10.1002/ajmg.a.61476DOI Listing

N-Glycanase 1 Transcriptionally Regulates Aquaporins Independent of Its Enzymatic Activity.

Cell Rep 2019 12;29(13):4620-4631.e4

Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA.

Patients with pathogenic mutations in NGLY1 cannot make tears and have global developmental delay and liver dysfunction. Traditionally, NGLY1 cleaves intact N-glycans from misfolded, retrotranslocated glycoproteins before proteasomal degradation. We demonstrate that Ngly1-null mouse embryonic fibroblasts, NGLY1 knockout human cells, and patient fibroblasts are resistant to hypotonic lysis. Read More

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http://dx.doi.org/10.1016/j.celrep.2019.11.097DOI Listing
December 2019

A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome.

Am J Med Genet A 2020 03 11;182(3):570-575. Epub 2019 Dec 11.

Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, University Medical Center Göttingen, Göttingen, Germany.

Cohen syndrome (CS) is a rare autosomal recessive disorder associated with mutations in the vacuolar protein sorting 13 homolog B (VPS13B; formerly COH1) gene. The core clinical phenotype comprises a characteristic facial gestalt, marked developmental delay, and myopia. Additional, nonobligatory features include obesity, microcephaly, short stature, muscular hypotonia, scoliosis, narrow hands and feet, progressive retinopathy, as well as neutropenia. Read More

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http://dx.doi.org/10.1002/ajmg.a.61435DOI Listing

Triple A syndrome (Allgrove syndrome): improving outcomes with a multidisciplinary approach.

Pediatric Health Med Ther 2019 29;10:99-106. Epub 2019 Aug 29.

Department of Pediatrics, NewYork-Presbyterian Brooklyn Methodist Hospital, Brooklyn, NY, USA.

Allgrove syndrome or triple A (3A) syndrome is a multisystem disorder which classically involves the triad of esophageal achalasia, alacrima, and adrenal insufficiency due to adrenocorticotropin hormone insensitivity. It follows an autosomal recessive pattern of inheritance and is associated with mutations in the (achalasia-addisonianism-alacrima syndrome) gene. Since its first description in 1978, the knowledge on clinical and genetic characteristics has been expanding; however, the current literature is limited to case reports and case reviews. Read More

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http://dx.doi.org/10.2147/PHMT.S173081DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6718240PMC

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

J Endocrinol Invest 2020 Feb 21;43(2):185-196. Epub 2019 Aug 21.

Department of Pediatric Endocrinology and Diabetes, Marmara University, Ministry of Health, Pendik Training and Research Hospital, Istanbul, Turkey.

Background: 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 impairment and dermatological abnormalities. Read More

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http://dx.doi.org/10.1007/s40618-019-01099-2DOI Listing
February 2020
6 Reads

Homozygous deletion of the entire AAAS gene in a triple A syndrome patient.

Eur J Med Genet 2019 Jul 6;62(7):103665. Epub 2019 May 6.

Children's Hospital, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstrasse 74, 01307, Dresden, Germany.

Triple A syndrome, a multisystemic autosomal recessive disease, is characterized by the clinical triad of adrenal insufficiency, alacrima and achalasia in combination with progressive neurological impairments. The disorder is caused by homozygous or compound heterozygous mutations in the AAAS gene. Here we present the clinical and molecular data of a ten year old patient with triple A syndrome. Read More

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http://dx.doi.org/10.1016/j.ejmg.2019.05.004DOI Listing
July 2019
14 Reads

β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in .

Cold Spring Harb Mol Case Stud 2019 06 3;5(3). Epub 2019 Jun 3.

Department of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg 413 45, Sweden.

β-Mannosidosis is a lysosomal storage disorder characterized by accumulation of disaccharides due to deficiency of the lysosomal enzyme β-mannosidase. The disease is caused by mutations in and is extremely rare in humans. Although the clinical presentation is heterogeneous, common symptoms include various degrees of developmental delay, behavioral disturbances, hearing loss, and frequent infections. Read More

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http://dx.doi.org/10.1101/mcs.a003954DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549551PMC
June 2019
18 Reads

Isolated glucocorticoid deficiency: Genetic causes and animal models.

J Steroid Biochem Mol Biol 2019 05 25;189:73-80. Epub 2019 Feb 25.

Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, Charterhouse Square, London, United Kingdom. Electronic address:

Hereditary adrenocorticotropin (ACTH) resistance syndromes encompass the genetically heterogeneous isolated or Familial Glucocorticoid Deficiency (FGD) and the distinct clinical entity known as Triple A syndrome. The molecular basis of adrenal resistance to ACTH includes defects in ligand binding, MC2R/MRAP receptor trafficking, cellular redox balance, cholesterol synthesis and sphingolipid metabolism. Biochemically, this manifests as ACTH excess in the setting of hypocortisolaemia. Read More

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http://dx.doi.org/10.1016/j.jsbmb.2019.02.012DOI Listing
May 2019
13 Reads

Triple A syndrome: two siblings with a novel mutation in the AAAS gene.

Hormones (Athens) 2019 Mar 5;18(1):109-112. Epub 2019 Jan 5.

Eunice Kennedy Shriver National Institute of Child Health and Human Development, 10 Center Drive, Building 10, Room 1-3330, Bethesda, MD, 20892, USA.

Objective: Triple A syndrome is a rare autosomal recessive disorder caused by mutations in the AAAS gene on chromosome 12q13. Its main clinical features are alacrima, achalasia, and adrenal insufficiency, with most patients also having neurological symptoms and autonomic dysfunction. The neurologic manifestations are less well-understood, especially in children. Read More

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http://dx.doi.org/10.1007/s42000-018-0089-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6447433PMC
March 2019
35 Reads

Tear protein analysis in presumed congenital alacrima.

Clin Ophthalmol 2018 11;12:2591-2595. Epub 2018 Dec 11.

Department of Ophthalmology, Kyorin University School of Medicine, Tokyo 181-8611, Japan,

Objectives: It is often hard to reach a definitive diagnosis of congenital alacrima because of the difficultly in proving the lack of lacrimal tissue. We report here the distinct tear protein profile in presumed congenital alacrima.

Patients And Methods: A 13-year-old girl with presumed congenital alacrima and 15 healthy volunteers aged 23-35 years were included in this study. Read More

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http://dx.doi.org/10.2147/OPTH.S184207DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6294164PMC
December 2018
11 Reads

Clinical decision making and application of an active rehabilitation program for a person with the neuromuscular symptoms of Allgrove syndrome: a case report.

Authors:
Joseph T Adams

Physiother Theory Pract 2018 Dec 3:1-8. Epub 2018 Dec 3.

a Rusk Rehabilitation, Clinical Instructor, Department of Rehabilitation Medicine NYU School of Medicine , NYU Langone Health , New York , NY , USA.

Background: Allgrove syndrome is a multisystem disorder first described in 1978 and is classically associated with esophageal achalasia, alacrima, and adrenal insufficiency. Allgrove syndrome is caused by homozygous and/or compound heterozygous mutations on Chromosome 12q13, designated as "AAA" (Achalasia, Addisonianism Alacrima). AAA encodes the protein ALADIN (Alacrima, Achalasia, aDrenal Insufficiency Neurologic disorder), a member of the nuclear porin family forming the nuclear pore complex. Read More

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http://dx.doi.org/10.1080/09593985.2018.1548049DOI Listing
December 2018
9 Reads

Hypokalemia Associated With a Claudin 10 Mutation: A Case Report.

Am J Kidney Dis 2019 03 25;73(3):425-428. Epub 2018 Oct 25.

Division of Nephrology, Department of Pediatrics, NYU Langone Health, New York, NY. Electronic address:

Hypokalemia of renal origin can arise from genetic abnormalities in a variety of transporters or channel proteins that mediate tubular handling of potassium. Recently, mutations in claudin 10 have been documented in patients with hypokalemia in association with a range of other electrolyte abnormalities and skin and sweat gland manifestations. We report a 12-year-old Hispanic boy who presented with anhydrosis, aptyalism, alacrima, hypokalemia, and hypocalciuria, in whom we detected a homozygous mutation in the claudin 10 gene. Read More

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http://dx.doi.org/10.1053/j.ajkd.2018.08.015DOI Listing
March 2019
44 Reads
5.900 Impact Factor

Triple A syndrome presenting as complicated hereditary spastic paraplegia.

Mol Genet Genomic Med 2018 11 31;6(6):1134-1139. Epub 2018 Oct 31.

Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.

Background: Hereditary spastic paraplegia (HSP) is a group of rare disorders characterized by spastic paraparesis and other symptoms. Often, other diseases can mimic HSP, which may delay diagnosis and treatment.

Methods: Whole exome sequencing was performed in families with clinically suspected HSP without a genetic diagnosis. Read More

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http://doi.wiley.com/10.1002/mgg3.492
Publisher Site
http://dx.doi.org/10.1002/mgg3.492DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305671PMC
November 2018
22 Reads

Allgrove syndrome: case report of 7 years old boy from Bahawalpur.

J Pak Med Assoc 2018 Aug;68(8):1260-1262

Paediatrics, Bahawal Victoria Hospital.

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. Read More

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August 2018
9 Reads

Atypical Presentation of Adrenocortical Insufficiency with Anorexia and Jaundice.

Am J Case Rep 2018 Jun 18;19:705-709. Epub 2018 Jun 18.

Department of Gastroenterology, Yuedong Hospital of the Third Affiliated Hospital of Sun Yat-sen University, Meizhou, Guangdong, China (mainland).

BACKGROUND Adrenal insufficiency is mainly due to insufficient adrenal corticosteroid hormones secretion by the adrenal cortex, which leads to clinical manifestations such as weakness, weight loss, hyperpigmentation, hypotension, and vomiting. However, the clinical manifestations of adrenocortical insufficiency may be atypical: anorexia, ascites, impaired liver function, and alacrima have been reported. Jaundice and anorexia presenting together in the same patient as the main symptoms are rare. Read More

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http://dx.doi.org/10.12659/AJCR.909190DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6042472PMC
June 2018
18 Reads

Clinical heterogeneity and molecular profile of triple A syndrome: a study of seven cases.

J Pediatr Endocrinol Metab 2018 Jul;31(7):799-807

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.

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 features have been reported over time in this heterogeneous and multisystemic disorder. Read More

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http://dx.doi.org/10.1515/jpem-2018-0023DOI Listing
July 2018
13 Reads

A Novel Mutation in Two Adult Sisters with Achalasia, Alacrima, Short Stature, Dysmorphism, and Intellectual Disability.

Mol Syndromol 2018 Feb 18;9(2):110-114. Epub 2018 Jan 18.

Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición "Salvador Zubirán", Mexico City, Mexico.

The alacrima, achalasia, and mental retardation syndrome (AAMR) is a newly described autosomal recessive disorder characterized by the onset of these 3 main features at birth or in early infancy. At present, only 16 cases have been reported. Recently, it was shown that AAMR is due to mutations in the guanosine diphosphate (GDP)-mannose pyrophosphorylase A () gene. Read More

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http://dx.doi.org/10.1159/000485908DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5836150PMC
February 2018
12 Reads

Alacrima, a rare cause of pediatric dry eye.

J AAPOS 2018 06 14;22(3):233-235. Epub 2018 Feb 14.

Dr. Shroff's Charity Eye Hospital, Daryaganj, New Delhi, India.

We report the case of a 12-year-old boy who presented with a history of 4-5 years of severe bilateral photophobia, with exacerbation and increased ocular pain for 3-4 days. There were no systemic signs, and serology tests were negative; however, parents noted crying without tears since birth. Computerized tomography of the orbits revealed bilateral hypoplasia of lacrimal glands. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10918531173021
Publisher Site
http://dx.doi.org/10.1016/j.jaapos.2017.11.003DOI Listing
June 2018
12 Reads
1.142 Impact Factor

Per-oral endoscopic myotomy for esophageal achalasia in a case of Allgrove syndrome.

Clin J Gastroenterol 2018 Aug 30;11(4):273-277. Epub 2018 Jan 30.

Department of Gastroenterology, Fukushima Medical University School of Medicine, Fukushima, 960-1295, Japan.

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. Read More

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http://dx.doi.org/10.1007/s12328-018-0819-7DOI Listing
August 2018
19 Reads

Compensation for chronic oxidative stress in ALADIN null mice.

Biol Open 2018 Jan 23;7(1). Epub 2018 Jan 23.

Klinik und Poliklinik für Kinder-und Jugendmedizin, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden 01307, Germany.

Mutations in the gene coding for the nuclear pore complex protein ALADIN lead to the autosomal recessive disorder triple A syndrome. Triple A patients present with a characteristic phenotype including alacrima, achalasia and adrenal insufficiency. Patient fibroblasts show increased levels of oxidative stress, and several studies have demonstrated that the nucleoporin ALADIN is involved in both the cellular oxidative stress response and adrenal steroidogenesis. Read More

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http://dx.doi.org/10.1242/bio.030742DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5829508PMC
January 2018
32 Reads

Transcriptome and functional analysis in a Drosophila model of NGLY1 deficiency provides insight into therapeutic approaches.

Hum Mol Genet 2018 03;27(6):1055-1066

Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.

Autosomal recessive loss-of-function mutations in N-glycanase 1 (NGLY1) cause NGLY1 deficiency, the only known human disease of deglycosylation. Patients present with developmental delay, movement disorder, seizures, liver dysfunction and alacrima. NGLY1 is a conserved cytoplasmic component of the Endoplasmic Reticulum Associated Degradation (ERAD) pathway. Read More

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http://dx.doi.org/10.1093/hmg/ddy026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886220PMC
March 2018
9 Reads

"Crying without tears" as an early diagnostic sign-post of triple A (Allgrove) syndrome: two case reports.

BMC Pediatr 2018 01 15;18(1). Epub 2018 Jan 15.

Department of Pediatrics, Medizinische Fakultät, Technische Universität Dresden, Dresden, Germany.

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. Read More

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http://dx.doi.org/10.1186/s12887-017-0973-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5769402PMC
January 2018
15 Reads

Clinical and genetic characterisation of a series of patients with triple A syndrome.

Eur J Pediatr 2018 Mar 19;177(3):363-369. Epub 2017 Dec 19.

Department of Pediatric Endocrinology, Dr. Sami Ulus Obstetrics and Gynecology and Pediatrics Training and Research Hospital, Altındağ, 06020, Ankara, Turkey.

Triple A syndrome (TAS) or Allgrove syndrome (OMIM #231550) is a rare autosomal recessive disorder characterised by adrenocorticotropic hormone-resistant adrenal insufficiency, alacrima, achalasia, and neurological and dermatological abnormalities. Mutations in the AAAS gene on chromosome 12q13 encoding the nuclear pore protein ALADIN have been reported in these patients. Between 2006 and 2017, we evaluated six patients with a clinical diagnosis of TAS, based on the presence of at least two symptoms, usually adrenal insufficiency and alacrima. Read More

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http://dx.doi.org/10.1007/s00431-017-3068-8DOI Listing
March 2018
26 Reads

Triple-A syndrome: a wide spectrum of adrenal dysfunction.

Eur J Endocrinol 2018 Mar 13;178(3):199-207. Epub 2017 Dec 13.

Univ LyonUniversité Claude Bernard Lyon 1, Lyon, France.

Objective: Triple-A or Allgrove syndrome is an autosomal recessive disorder due to mutations in the 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. Read More

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http://dx.doi.org/10.1530/EJE-17-0642DOI Listing
March 2018
21 Reads

Isolated bilateral congenital lacrimal gland agenesis - Report of two cases.

Saudi J Ophthalmol 2017 Oct-Dec;31(4):257-259. Epub 2017 May 3.

King Khalid Eye Specialist Hospital, Riyadh, Saudi Arabia.

Congenital lacrimal gland agenesis, also called congenital alacrima, is a rare cause of dry eye and is characterized by aplasia or hypoplasia of lacrimal glands. We present two 5-year old children with congenital lacrimal gland agenesis. The two cases had the final diagnosis of isolated bilateral congenital lacrimal gland agenesis and we document the clinical aspects, treatment and present a literature review related to this rare condition. Read More

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http://dx.doi.org/10.1016/j.sjopt.2017.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5717493PMC
May 2017
6 Reads

Phenotype-genotype spectrum of AAA syndrome from Western India and systematic review of literature.

Endocr Connect 2017 Nov;6(8):901-913

Department of EndocrinologySeth G.S. Medical College & KEM Hospital, Mumbai, Maharashtra, India.

Objective: To study genotype-phenotype spectrum of triple A syndrome (TAS).

Methods: Retrospective chart analysis of Indian TAS patients (cohort 1,  = 8) and review of genotyped TAS cases reported in world literature (cohort 2,  = 133, 68 publications).

Results: Median age at presentation was 4. Read More

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http://dx.doi.org/10.1530/EC-17-0255DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5705786PMC
November 2017
14 Reads

Diagnosis and genetics of alacrima.

Authors:
J Adams C P Schaaf

Clin Genet 2018 07 5;94(1):54-60. Epub 2018 Feb 5.

Baylor College of Medicine, Department of Molecular and Human Genetics, Houston, TX.

Alacrima, the lack of tears, is a rare clinical finding that has been reported as a feature of multiple genetic disorders and can serve as a diagnostic clue to some rare conditions. Causes of alacrima range from absence/hyposecretion of tears to agenesis or improper development of lacrimal gland ducts and associated structures. There are 13 known heritable disorders featuring varying degrees and causes of alacrima. Read More

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http://dx.doi.org/10.1111/cge.13173DOI Listing
July 2018
10 Reads

Riley-Day Syndrome in a Hispanic Infant of Non-Jewish Ashkenazi Descent.

J Clin Diagn Res 2017 Jul 1;11(7):ND01-ND02. Epub 2017 Jul 1.

Consultant, Endocrine Service, Hospital Universitario "Dr. José E. González", Universidad Autónoma de Nuevo, Monterrey, Nuevo León, Mexico.

Riley-Day syndrome is an autosomal recessive sensory and autonomic neuropathy. Patients present a lack of fungiform papilla, alacrima and usually feeding difficulties. It is present almost exclusively in Ashkenazi Jewish individuals and has a poor prognosis. Read More

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http://dx.doi.org/10.7860/JCDR/2017/25584.10152DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5583826PMC
July 2017
5 Reads

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

Am J Med Genet A 2017 Aug 2;173(8):2246-2250. Epub 2017 Jun 2.

Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.

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 reported to cause a disorder characterized by achalasia, alacrima, neurological deficits, and intellectual disability. Read More

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http://dx.doi.org/10.1002/ajmg.a.38292DOI Listing
August 2017
50 Reads

Triple A Syndrome: Preliminary Response to the Antioxidant N-Acetylcysteine Treatment in a Child.

Horm Res Paediatr 2017 10;88(2):167-171. Epub 2017 Apr 10.

Endocrinologia do Desenvolvimento, Divisão de Endocrinologia & Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.

Introduction: Triple A syndrome (AAAS) is a rare autosomal recessive disorder characterized by alacrima, achalasia, ACTH-resistant adrenal insufficiency, autonomic dysfunction, and progressive neurodegeneration. Increased oxidative stress, demonstrated in patients' fibroblasts in vitro, may be a central disease mechanism. N-acetylcysteine protects renal function in patients with kidney injuries associated with increased oxidative stress and improves viability of AAAS-knockdown adrenal cells in vitro. Read More

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http://dx.doi.org/10.1159/000465520DOI Listing
May 2018
40 Reads

Muscle Pathology as a Diagnostic Clue to Allgrove Syndrome.

J Neuropathol Exp Neurol 2017 May;76(5):337-341

From Muscle Lab, Department of Neurology, University of Bonn Medical Centre, Bonn, Germany (JR, KT), Institute of Clinical Genetics, Bonn, Germany (NK), Institute of Neuropathology, RWTH Aachen University Hospital, Aachen, Germany (JW, AR), Department of Neuropathology, University of Bonn Medical Centre, Bonn, Germany (KK), Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V, Department of Bioanalytics, Tissue Omics group, Dortmund, Germany (AR), John Walton Muscular Dystrophy Research Centre (JWMDRC), Newcastle University, International Centre for Life, Central Parkway, UK, Newcastle upon Tyne (AR).

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. Read More

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http://dx.doi.org/10.1093/jnen/nlx016DOI Listing
May 2017
25 Reads

Lacrimal Gland Involvement in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome.

Ophthalmology 2017 03 30;124(3):399-406. Epub 2016 Nov 30.

Division of Oculoplastic and Orbit Surgery, Department of Ophthalmology, Otorhinolaryngology and Head and Neck Surgery, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, São Paulo, Brazil. Electronic address:

Purpose: To describe the involvement of the lacrimal gland (LG) in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).

Design: Observational, cross-sectional study.

Participants: Twenty-one patients with BPES (10 female, 11 male) aged on average 15 years (range, 2-39 years), from 3 Brazilian medical centers and 1 Portuguese medical center. Read More

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http://dx.doi.org/10.1016/j.ophtha.2016.10.028DOI Listing
March 2017
41 Reads

Edentulous child with Allgrove syndrome: a rare case report.

Korean J Pediatr 2016 Nov 18;59(11):456-459. Epub 2016 Nov 18.

Department of Prosthodontics, Faculty of Dentistry, Kashan University of Medical Sciences, Kashan, Iran.

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. Read More

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http://dx.doi.org/10.3345/kjp.2016.59.11.456DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5118506PMC
November 2016
6 Reads

A novel mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima.

J Med Genet 2017 03 5;54(3):176-185. Epub 2016 Oct 5.

Department of Biology, Concordia University, Montreal, Quebec, Canada.

Background: Triple A syndrome (MIM #231550) is associated with mutations in the gene. However, about 30% of patients with triple A syndrome symptoms but an unresolved diagnosis do not harbour mutations in .

Objective: Search for novel genetic defects in families with a triple A-like phenotype in whom mutations are not detected. Read More

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http://dx.doi.org/10.1136/jmedgenet-2016-104108DOI Listing
March 2017
86 Reads

Alacrima as a Harbinger of Adrenal Insufficiency in a Child with Allgrove (AAA) Syndrome.

Am J Case Rep 2016 Oct 4;17:703-706. Epub 2016 Oct 4.

Department of Genetics, New York Methodist Hospital, Brooklyn, NY, USA.

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. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5051599PMC
http://dx.doi.org/10.12659/ajcr.899546DOI Listing
October 2016
10 Reads

Severe malnutrition causing superior mesenteric artery syndrome in an adolescent with Triple A syndrome.

J Pediatr Endocrinol Metab 2016 Oct;29(10):1221-1224

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. Read More

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http://dx.doi.org/10.1515/jpem-2015-0373DOI Listing
October 2016
7 Reads

Allgrove Syndrome: Adrenal Insufficiency with Hypertensive Encephalopathy.

J Coll Physicians Surg Pak 2016 Sep;26(9):790-2

Department of Paediatric Endocrinology,The Children's Hospital and ICH, Lahore.

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. Read More

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http://dx.doi.org/2438DOI Listing
September 2016
28 Reads
0.318 Impact Factor

Splicing Defects in the AAAS Gene Leading to both Exon Skipping and Partial Intron Retention in a Tunisian Patient with Allgrove Syndrome.

Horm Res Paediatr 2016 15;86(2):90-93. Epub 2016 Jul 15.

Laboratory of Human Molecular Genetics, Faculty of Medicine of Sfax, University of Sfax, Sfax, Tunisia.

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. Read More

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http://dx.doi.org/10.1159/000446539DOI Listing
April 2017
29 Reads

Achalasia: Outcome in children.

J Gastroenterol Hepatol 2017 Feb;32(2):395-400

Department of Gastroenterology and Clinical Nutrition, Australia.

Background: Oesophageal achalasia is well-recognized but relatively rare in children, occasionally appearing as the "triple A" syndrome (with adrenal insufficiency and alacrima). Treatment modalities, as in adult practice, are not curative, often needing further interventions and spurring the search for better management. The outcome for syndromic variants is unknown. Read More

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http://dx.doi.org/10.1111/jgh.13484DOI Listing
February 2017
5 Reads

Three cases of triple A syndrome (Allgrove syndrome) in pediatric surgeons' view.

Acta Chir Belg 2016 Apr 21;116(2):119-21. Epub 2016 Apr 21.

a Department of Paediatric Surgery, Istanbul Medical Faculty , Istanbul University , Istanbul , Turkey.

Triple A syndrome, also known as Allgrove syndrome, is a rare disease, and presents mainly in children. Its cardinal symptoms are achalasia, alacrima, and adrenocorticotropic hormone (ACTH) insensitivity. We report three cases of Triple A syndrome. Read More

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http://dx.doi.org/10.1080/00015458.2016.1139835DOI Listing
April 2016
10 Reads