Triple A syndrome with ophthalmic manifestations in two siblings

Babu, Kalpana; Murthy, Krishna R.; Babu, Narendra; Ramesh, S
July 2007
Indian Journal of Ophthalmology;Jul2007, Vol. 55 Issue 4, p304
Academic Journal
journal article
Triple A syndrome (Allgrove syndrome) is a rare, autosomal recessive disorder characterized by adrenocorticotropic hormone resistant adrenal insufficiency, alacrima, achalasia of the esophageal cardia, progressive neurological degeneration and occasionally autonomic instability. We report the ophthalmic manifestations in 2 siblings from a consanguineous family with this syndrome. A routine ophthalmic examination showed absence of palpebral portion of lacrimal gland, dry eyes and sluggish pupillary reflexes in both eyes of these patients. Both of these patients had achalasia cardia while the boy additionally had increased serum cortisol levels. Topical ocular lubricants were prescribed for both of them and Heller's cardiomyotomy with fundus plication was done for achalasia. These cases would create an awareness of this rare condition in ophthalmology in addition to suggesting its management.


Related Articles

  • Psittacosis Bacteremia in a Patient with Sarcoidosis. Harris, Alan A.; Pottage Jr., John C.; Kessler, Harold A.; Zeihen, Michael; Levin, Stuart // Annals of Internal Medicine;Oct84, Vol. 101 Issue 4, p502 

    Describes the presentation of psittacosis in one of two siblings with a syndrome of familial sarcoidosis. History of the patient's illness; Manifestations of Chlamydia psittaci infection; Basis of diagnosis.

  • triple X syndrome. Peters, Michael // BMA A-Z Family Medical Encyclopedia;2004, p761 

    An encyclopedia entry for "triple X syndrome" is presented. The condition occurs when females inherit three female sex chromosomes instead of the usual two. Errors in the division of one parent's sperm or egg cells cause the defect. Features of triple X syndrome include delayed speech and motor...

  • Delayed diagnosis of HIV infection in ophthalmic practice. Wadood, A. C.; Dhilon, B.; Mcllwaine, G.; Brettle, R. P. // Eye;Mar2004, Vol. 18 Issue 3, p293 

    The introduction of potent antiretroviral drug combinations has transformed human immunodeficiency virus/acquired immunodeficiency disease syndrome (HIV/ AIDS) from an intractable and rapidly fatal disease to a chronic manageable illness with prolonged life survival for many patients. This paper...

  • Early Ocular Manifestations in an Infant With Carbohydrate-Deficient Glycoprotein Syndrome Type Ia. Laplace, Olivier; Voegtle, Rémy; Rigolet, Marie-Hélène; Bourcier, Tristan; Nordmann, Jean-Philippe // Journal of Pediatric Ophthalmology & Strabismus;May/Jun2003, Vol. 40 Issue 3, p179 

    Presents a case study of an ophthalmic manifestations in a patient with carbohydrate-deficient glycoprotein syndrome type Ia. Medical history of the patient; Diagnosis; Etiology of carbohydrate-deficient glycoprotein syndrome.

  • Papillon-Lefevre Syndrome: A Novel Familial Presentation. Sudhakar, S.; Prabhat, M. P. V.; Kumar B., Praveen // World Journal of Dentistry;Oct2010, Vol. 1 Issue 3, p209 

    Papillon-Lefevre syndrome (PLS) is a condition characterized by dermatological manifestations and early onset periodontitis. The pathogenesis of PLS is secondary to mutation of the cathepsin C gene. Hence, the manifestations are expressed on the areas of the body covered by epithelium, such as...

  • PROGERIA IN SIBLINGS: A RARE CASE REPORT. Sowmiya, R.; Prabhavathy, D.; Jayakumar, S. // Indian Journal of Dermatology;Sep/Oct2011, Vol. 56 Issue 5, p581 

    Progeria, also known as Hutchinson-Gilford syndrome, is an extremely rare, severe genetic condition wherein symptoms resembling aspects of aging are manifested at an early age. It is an autosomal dominant disorder. It is not seen in siblings of affected children although there are very few case...

  • Hutchinson-Gilford progeria syndrome accompanied by severe skeletal abnormalities in two Chinese siblings: two case reports. Zhimin Xiong; Yanmei Lu; Jinjie Xue; Sanchuan Luo; Xiaojuan Xu; Lusi Zhang; Hao Peng; Wei Li; Dengming Chen; Zhengmao Hu; Kun Xia // Journal of Medical Case Reports;2013, Vol. 7 Issue 1, p1 

    Introduction: Hutchinson-Gilford progeria syndrome is a rare pediatric genetic syndrome with an incidence of one per eight million live births. The disorder is characterized by premature aging, generally leading to death due to myocardial infarction or stroke at approximately 13.4 years of age....

  • Oligohydramnion, renal failure and no pulmonary hypoplasia in glomerulocystic kidney disease. Landau, D.; Shalev, H.; Shulman, H.; Barki, Y.; Maor, E.; Zmora, E. // Pediatric Nephrology;Mar2000, Vol. 14 Issue 4, p319 

    Two newborns with glomerulocystic kidney disease manifesting as late onset oligohydramnion and neonatal anuria, yet without severe respiratory distress, are presented. They had a similar perinatal course and associated clinical manifestations. No associated congenital or inherited malformation...

  • Orthoptics and Craniofacial Syndromes. Schweinler, Bonita // American Orthoptic Journal;2014, Vol. 64 Issue 1, p21 

    Craniofacial syndromes in children present with a variety of ophthalmic manifestations in which an orthoptist would be a part of the team of health professionals taking care of these patients. The significant role that the orthoptist would have in the evaluation and treatment of these patients...


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics