A Case Report Of Lowe Syndrome Diagnosed By Linkage Analysis

1232 words - 5 pages

INTRODUCTIONLowe oculocerebrorenal syndrome is a rare X-linked disorder characterized by major abnormalities of the lens, brain and kidneys. It leads to the clinical triad of cataract formation during early infancy, mental retardation and a broad range of renal abnormalities, including incomplete bicarbonate resumption, renal tubular acidosis and end-stage kidney disease (Lowe, Terrey, MacLachan, 1952, 83:164-84.)[1, 2]. The OCRL1 gene is located on chromosome Xq25-26(Lowe, Terrey, MacLachan, 1952, 83:164-84.)1 .Over 70 mutations have been identified. ( Charnas & Gahl, 1990; 38:75-107.)2 The OCRL gene encodes phosphatidylinositol 4, 5-biphospsphate 5-phosphatase (ocrl1p) is present in the Golgi complex, and reduced enzyme activity results in increased enzyme substrate and abnormal distribution of acting-binding proteins that may cause abnormal cell migration and differentiation.( Suchy & Nussbaum, 2002;71:1420-1427)4CLINICAL REPORTThis boy was the second child of non-consanguineous healthy parents and had a birth weight of 2.9 kg at 40 weeks of gestation. He had generalized hypotonia and congenital cataracts after birth. Cranial ultrasound showed features of generalized brain atrophy. Chromosome analysis showed a normal 46,XY male karyotype and the TORCH screen was negative. Renal and abdominal ultrasound findings were unremarkable. His psychomotor development was severe delay, with sitting unsupported at 14 months, independent ambulation at 2 years and speaking his first words at 2 years.He was diagnosed as Lowe syndrome until age 4 years 10 months when he developed metabolic acidosis after lower airway infection. On examination, his height, weight and occipital frontal circumference below the 5th percentile for age. The face was triangular in appearance; the head was dolichocephalic with frontal bossing; hairline was receded anteriorly. The eyes were deeply set. The ears were large, protruding, but normally placed. The palate was highly arched. The philtrum was prominent and elongated; the upper lip was thin. He had numerous dental carries, some of which were surgically removed. His genitalia showed prepubertal male with undescended testicles. He had decreased muscle strength and clumsy gait. Laboratory showed decreased level of Na, 132 mmol/L, K, 3.0 mmol/L and Ca, 8.7 mg/dl phosphate, 3.3 mg/dl and normal anion gap metabolic acidosis. Elevated serum chloride is found to be 108 mmol/L, Mg 2.7 mg/dl. BUN/Cre 12.6/0.46. Proximal tubular acidosis with diffuse hyperaminoaciduria was documented with a decreased bicarbonate reabsorption threshold. There was no glucosuria.Treatment consisted of alkalization by sodium bicarbonate (3 mg/kg/day) that corrected acidosis and growth. He currently is attending 2nd grade in the public school system, where he receives supplemental speech therapy, physical therapy, and vision and occupational therapies. There has been no formal IQ testing performed. His mother reports that he is able to keep up...

Find Another Essay On A Case Report of Lowe Syndrome Diagnosed By Linkage Analysis

Analysis of Paul’s Case by Willa Cather

2649 words - 11 pages her childhood and her time spent in a small town she grew up in. Giving her the brilliancy and the ambition to become a writer of short stories which included, Paul’s Case. Themes are represented in all short stories in Paul’s Case, Cather shows the readers a young boy being brought up in a hostile environment whose only dream is to one day pursuiting more than what he came from to make his life better. In Paul's Case by Willa Cather, a boy by

Analysis and Description of Ehlers danlos Syndrome

2197 words - 9 pages (space within cells and tissue) and bones. At least 50 percent of type I and II EDS is caused by a mutation in the COL5A1 gene. Collagen V cannot construct fibrils in skin and tissues properly, resulting in large fibrils that are disorganized causing EDS. The COL5A1 gene is located on chromosome 9 and is located between base pairs 134,641,804 to 134, 844,842 (Ehlers-Danlos Syndrome, 2014) (see figure 2). Type III hypermobile EDS occurs in

Analysis of the Fragile X Syndrome

1818 words - 7 pages "Fragile X Syndrome (also called FXS) is the most common cause of inherited mental retardation." (2011, University of Michigan Health System). "The gene on the X chromosome that causes FXS is called the Fragile X Mental Retardation 1 (FMR1) gene. The FMR1 gene makes a protein that is needed for normal brain development." (September 1, 2006. Department of Human Health and Services Center of Disease Control and Prevention.) When this protein is

Tibial Osteomyelitis caused by Gordonia Bronchialis in an Imuunocompetent patient: a case report

1352 words - 5 pages a patient with external otitis. Int. J. Syst. Evol. Microbiol. 55:1871–1876. doi:10.1099/ ijs.0.63282-0. 6. Bakker, X. R., P. H. Spauwen, and W. M. Dolmans. 2004. Mycetoma of the hand caused by Gordona terrae: a case report. J. Hand Surg. Br. 29:188–190. 7. Lai, C. C., et al. 14 October 2009, posting date. Infections caused by Gordonia species at a medical center in Taiwan, 1997 to 2008. Clin. Microbiol. Infect. doi:10.1111/j.1469

Indications that Munchausen by proxy syndrome stems from a variety of reasons.

1378 words - 6 pages Most people would never dream of inflicting pain on themselves or their loved ones in an attempt to gain the attention and sympathy of others, but people with Munchausen by Proxy Syndrome (MSBP) do just that. Someone who has this mental illness is a parent, most often the mother, who fabricates illnesses in their children, subjecting them to numerous medical examinations and tests. Scientific studies have been unable to establish a clear

Causal Analysis of Pauls Case by Willa Cather

879 words - 4 pages "Happiness is not having what you want, but wanting what you have." (Schachtel) "Paul's Case" by Willa Cather, is a story of a young man that lives in a world in which he feels he does not belong. According to the National Alliance for the Mentally Ill, Paul could be "suffering from a narcissistic personality disorder, which is a pervasive pattern of grandiosity, the need for admiration, and the lack of empathy." (NAMI) His desire for this

Case Analysis of "Star Alliance (A): A Global Network"

2486 words - 10 pages how to keep their current customers. Furthermore the airlines are facing a new threat from low-cost carriers, which are emerging and succeeding, especially in Europe, in an incredible pace.Causes of ProblemStar Alliance launched in May 1997 with renowned airlines as Lufthansa, United Airlines, Air Canada, SAS and Thai Airways. This alliance came to life shortly after the last phase of the "Third Package" (p. 619) was put to an end by the European

"The Case" A Critical analysis of the article "Making His Case" by Karen Tumulty, "Attacking Iraq, Think Again," by Mark Strauss, & a speech on Oct 8, 2002, by Pres Bush.

1022 words - 4 pages dispute a report that an al Qaeda suicide bomber met with an Iraqi intelligence officer in Prague five months before the September 11 attacks (4). Also, the White House now concedes that the anthrax sent by mail in the fall of 2001 originated in the United States, and not in Saddam'sweapons labs. Strauss goes on to say that based on the U.S. State Department's Patterns of Global Terrorism report published in April 2001, Iraqi terrorism has, inthe

Analysis of The Types of Law in a Case Study

2204 words - 9 pages formed between both parties. The Sales of Goods Act 1979 would come into effect if such a contact had been formed, which provides legal rights to buyers of goods.A contract for the sale of goods can be defined using s.2 (1) of the Sales Of Goods Act 1979 as 'a contract of sale of goods by which the seller transfers or agrees to transfer ownership in goods to the buyer for money consideration, called the price'. Further,It can therefore be

"The Strange Case Of Dr. Jekyll and Mr. Hyde" by Robert Louis Stevenson. It includes a short summary of the book and a analysis of the characters.

1198 words - 5 pages In "The Strange Case of Dr. Jekyll and Mr. Hyde" Robert Louis Stevenson tells the story of Dr. Jekyll, a man who finds a way to become someone else, literally. But there is more to the book then meets the eye. "The Strange Case of Dr. Jekyll and Mr. Hyde" is a book of mystery that has several themes and motifs surrounding it. It is a book about a man trying to find a way to stay himself and a lawyer who is trying to figure out the mystery

Book Report: "A Tale of Two Cities" by Charles Dickens

1755 words - 7 pages Book EvaluationSetting: "A Tale of Two Cities" is written by Charles Dickens and it takes place in France and England beginning in 1775. It's told in third person until the end when Sydney Carton overtakes the narrator and talks in first person for the last few paragraphs of the novel.Protagonist: Charles Darnay is a young French aristocrat by birth but he chooses to live in England because he hates the French social system. He is virtuous in

Similar Essays

Analysis Of The Most Common Diagnosed Cancer In Women

1016 words - 4 pages findings. Similarly, H. Lynch & J. Lynch (2011) found that women with significant childhood exposure to passive smoking were diagnosed with breast cancer more than non-smokers. Conversely, passive smoking commonly known as second-hand smoke has been discredited as a risk factor partly due to the lack of a reported association in active smokers. It was found that the breast cancer effect was hindered by the lack of specificity in

Complete Analysis Of Tourette's Syndrome, A Genetic Disease

669 words - 3 pages Have you ever heard or seen a person scream out or jerk at random? These people could have a disorder called Tourette's Syndrome. This disorder is named after Georges Gilles de la Tourette, in 1857. Tourette was a neuropsychiatrist who was amazed by Sister Jeanne des Anges's illness when she was thrashing out at her friends, relatives, and random people and screaming out of the ordinary. Tourette and a colleague wrote an analysis about this

Manzana Insurance (Case Analysis Report)

1344 words - 5 pages )The Objective:To identify bottlenecks in Manzana's operations using process flow analysis.The Analysis:Manzana is a service company and hence, it has a constraint of not being able to store its products for supply unlike a manufacturing company. In this case the turnaround time or TAT defines the service quality. Manzana has a problem of not being able to renew its insurance policies on time as a result of which, many clients choose to go

Analysis Of Paul's Case By Willa Cather

1094 words - 4 pages Analysis of Paul's Case by Willa Cather Willa Cather’s “Paul’s Case” is a story about a young 16 year-old man, Paul, who is motherless and alienated. Paul’s lack of maternal care has led to his alienation. He searches for the aesthetics in life that that he doesn’t get from his yellow wallpaper in his house and his detached, overpowering father figure in his life. Paul doesn’t have any interests in school and his only happiness is in working