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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

Am J Kidney Dis 2018 Oct 25. 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

Mol Genet Genomic Med 2018 Oct 31. 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

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

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

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

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

J AAPOS 2018 Jun 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

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

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

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

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

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

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

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

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

Clin Genet 2018 Jul 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

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

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

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

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

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

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

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

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

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

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

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

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

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

Horm Res Paediatr 2016 3;86(6):420-424. Epub 2016 Jun 3.

Department of Pediatric Endocrinology, Emma Children's Hospital, Academic Medical Center, VU University Medical Center, Amsterdam, The Netherlands.

Background: Congenital hypothyroidism of thyroidal origin (CHT) is a common disorder in pediatric endocrinology practices, which can be difficult to manage. Elevated thyrotropin (TSH) concentrations are in the great majority of cases explained by poor compliance to levothyroxine therapy.

Methods: Case description. Read More

Ophthalmic Plast Reconstr Surg 2017 Mar/Apr;33(2):e41-e42

*Division of Ophthalmic Plastic and Reconstructive Surgery, Shiley Eye Institute, University of California San Diego, San Diego, California, †Division of Plastic Surgery, University of California San Diego, San Diego, California, and ‡Bascom Palmer Eye Institute, University of Miami, Miami, Florida, U.S.A.

Advanced nasopharyngeal carcinoma may present to oculoplastic surgeons and ophthalmologists as epiphora or medial canthus swelling. In contrast, the authors describe an uncommon initial presentation of alacrima in a 30-year-old female with nasopharyngeal carcinoma without invasion of the nasolacrimal sac, duct, or lacrimal gland. The diagnosis was delayed due an initial misdiagnosis of dry eye. Read More

Arch Med Res 2016 02 28;47(2):105-10. Epub 2016 Apr 28.

Laboratory of Human Molecular Genetics, Faculty of Medicine, Sfax, Tunisia; Department of Pediatrics, C.H.U. Hedi Chaker, Sfax, Tunisia.

Background And Aims: Allgrove syndrome is characterized by achalasia, alacrima, and adrenal insufficiency as well as being associated with progressive neurological signs. This is an autosomal recessive disorder due to mutations in the AAAS gene located on chromosome 12q13. The AAAS gene encodes a protein of 546 amino acids, ALADIN. Read More

Eur J Paediatr Dent 2015 Dec;16(4):324-6

Italian Stomatological Institute (ISI), Department Oral Pathology and Laser Therapy, Milan, Italy.

Background: Triple A or Allgrove Syndrome (OMIM#231550) is a rare, autosomal recessive genetic disorder in which patients typically suffer from chronic adrenal insufficiency due to resistance to ACTH (Addison's disease), esophageal achalasia, and defective tear formation (alacrima). The syndrome is caused by mutations in the AAAS gene on chromosome 12q13 encoding a 546 aminoacid protein named alacrimia-achalasia-adrenal insufficiency neurologic disorder (ALADIN), a constituent of eukaryotic nuclear pore complexes.

Case Report: We describe a case of Allgrove Syndrome presenting with anhidrosis and peculiar dental features resembling those of Ectodermal Dysplasia (ED). Read More

Exp Ther Med 2015 Oct 10;10(4):1277-1282. Epub 2015 Aug 10.

Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, Beijing 100045, P.R. China.

Allgrove syndrome (AS) is an autosomal recessive congenital disease, caused by mutations in the AAAS gene, and is characterized by the triad of Addison's disease, achalasia and alacrima. The present study describes three newly diagnosed cases of AS, in which genetic analysis of the AAAS gene was used to identify AAAS gene mutations, to enhance the understanding of the pathogenesis and clinical manifestations of AS in the Chinese population. Two of the cases exhibited homozygous mutations of c. Read More

Horm Res Paediatr 2016 24;85(1):18-21. Epub 2015 Nov 24.

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

Background/aims: Allgrove syndrome is a rare autosomal recessive disorder characterized by alacrima, achalasia, and adrenal insufficiency. It is caused by mutations of the AAAS gene located on chromosome 12q13 encoding the WD-repeat protein ALADIN. The c. Read More

J Pediatr Ophthalmol Strabismus 2015 Oct 15;52 Online:e52-4. Epub 2015 Oct 15.

Congenital alacrima is a form of primary lacrimal deficiency characterized by aplasia or hypoplasia of the lacrimal gland. The puncta and salivary glands may also be aplastic. The case of a 5-year-old girl with congenital alacrima secondary to lacrimal gland agenesis and hypoplasia without punctal or salivary gland involvement and without other systemic comorbidities is reported. Read More

Free Radic Biol Med 2014 Oct 10;75 Suppl 1:S3. Epub 2014 Dec 10.

University of Leeds (Centre for Plant Sciences), School of Biology, UK.

The tripeptide thiol glutathione (GSH) is present in the nucleus of plant and animal cells. However, the functions of GSH in the nucleus remain poorly characterised. GSH appears to become sequestered in the nucleus at the early stages of the cell cycle. Read More

Osteoporos Int 2016 Feb 5;27(2):521-6. Epub 2015 Aug 5.

Klinik für Kinder-und Jugendmedizin, Universitätsklinikum Carl Gustav Carus, Technische Universität Dresden, Fetscherstrasse 74, 01307, Dresden, Germany.

Unlabelled: Triple A syndrome (alacrima, achalasia, adrenal failure, progressive neurodegenerative disease) is caused by mutations in the AAAS gene which encodes the protein alacrima achalasia adrenal insufficiency neurologic disorder (ALADIN). Our investigation suggests that low bone mineral density (BMD) for age/osteoporosis could be a common but overlooked symptom of unexplained etiology in this rare multisystemic disease.

Introduction: The purpose of this study is to evaluate incidence and etiology of BMD for age/osteoporosis, a possibly overlooked symptom in triple A syndrome. Read More

Pan Afr Med J 2015 14;20:359. Epub 2015 Apr 14.

Université Mohammed V Souissi, Service d''Ophtalmologie A Hôpital des Spécialités CHU Rabat, Maroc.

Glycobiology 2015 Aug 21;25(8):836-44. Epub 2015 Apr 21.

Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Medical Research Institute, 10901 North Torrey Pines Road, La Jolla, CA 92037, USA

N-Glycanase 1, encoded by NGLY1, catalyzes the deglycosylation of misfolded N-linked glycoproteins retrotranslocated into the cytosol. We identified nine cases with mutations in NGLY1. The patients show developmental delay, seizures, peripheral neuropathy, abnormal liver function and alacrima (absence of tears). Read More

J Pediatr Endocrinol Metab 2015 Jul;28(7-8):933-6

Triple A syndrome, formerly known as Allgrove syndrome, is an autosomal recessive disorder characterized clinically by adrenal insufficiency, alacrima, achalasia, and neurological abnormalities. 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. Read More

Ann Dermatol Venereol 2015 Feb 30;142(2):121-4. Epub 2014 Dec 30.

Dermatologie pédiatrique, service de pédiatrie-pneumologie, hôpital Femme-Mère-Enfant, 59, boulevard Pinel, 69677 Bron cedex, France.

Background: Allgrove syndrome or "Triple A syndrome" involves adrenal insufficiency as a result of resistance to adrenocorticotropic hormone (ACTH), achalasia and alacrima, often associated with neurological signs. Herein, we report a new case of this rare genetic disease, which is of interest because of its dermatological mode of discovery.

Patients And Methods: A 4-year-old child, born to parents related by first-degree consanguinity, presented oral hyperpigmentation and diffused acquired melanoderma, as well as long-standing dry-eye syndrome. Read More

J Med Genet 2014 Aug 4;51(8):526-9. Epub 2014 Jul 4.

Division of Pediatric Nephrology, Shaare Zedek Medical Center, Jerusalem, Israel.

Background: The primary hyperoxalurias are a group of recessive kidney diseases, characterised by extensive accumulation of calcium oxalate that progressively coalesces into kidney stones. Oxalate overproduction is facilitated by perturbations in the metabolism of glyoxylate, the product of glycolate oxidation, and the immediate precursor of oxalate. Glycolic aciduria associated with hyperoxaluria is regarded as the hallmark of type 1 primary hyperoxaluria. Read More

Ophthalmic Plast Reconstr Surg 2015 May-Jun;31(3):e62

*Oregon Health and Science University, Casey Eye Institute; and †EyeHealth Northwest, Portland, Oregon, U.S.A.

The purpose of this report was to present a case of congenital alacrima in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). A 9-month-old boy presented with characteristic clinical findings of BPES confirmed by genetic testing. On further history taking and evaluation, the patient was noted to have no tear production, despite clinically present palpebral lobes of the lacrimal glands. Read More

Pediatr Surg Int 2014 Jun 26;30(6):677-9. Epub 2014 Mar 26.

Division of Pediatric Surgery, Michael E DeBakey Department of Surgery, Baylor College of Medicine, 6701 Fannin Street Suite 1210, Houston, TX, 77030, USA.

Allgrove syndrome is a rare genetic disorder typically manifested by alacrima, achalasia, and adrenal insufficiency, and is one of the rare causes of achalasia in infants. While the gold standard for achalasia treatment in adults is an esophageal myotomy with fundoplication, a standard treatment for infantile achalasia remains undetermined due to the low number of reported cases and rarity of the disease in this age group. We report a 7. Read More

Genet Med 2014 Oct 20;16(10):751-8. Epub 2014 Mar 20.

1] Center for Human Genome Variation and Department of Medicine, Duke University School of Medicine, Durham, North Carolina, USA [2] Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, North Carolina, USA.

Purpose: The endoplasmic reticulum-associated degradation pathway is responsible for the translocation of misfolded proteins across the endoplasmic reticulum membrane into the cytosol for subsequent degradation by the proteasome. To define the phenotype associated with a novel inherited disorder of cytosolic endoplasmic reticulum-associated degradation pathway dysfunction, we studied a series of eight patients with deficiency of N-glycanase 1.

Methods: Whole-genome, whole-exome, or standard Sanger sequencing techniques were employed. Read More

J Neurol Sci 2014 Jan 8;336(1-2):251-3. Epub 2013 Oct 8.

Department of Neurology, Post Graduate Institute of Medical Education and Research, Chandigarh 160012, India. Electronic address:

Importance: Allgrove syndrome is a rare autosomal recessive disorder characterised by achalasia, alacrima, adrenal insufficiency, autonomic dysfunction and amyotrophy. The syndrome has been described in childhood and adult presentation, as in our case, is very rare. There is a considerable delay in diagnosis due to lack of awareness about the syndrome. Read More