Alkaptonuria

2016 ◽  
Author(s):  
Wendy J. Introne
Keyword(s):  
Clinical Trials ◽  
Heart Disease ◽  
Valvular Heart Disease ◽  
Early Onset ◽  
Autosomal Recessive ◽  
Specific Treatment ◽  
Autosomal Recessive Disorder ◽  
Pigment Deposition

Alkaptonuria is an autosomal recessive disorder with an incidence of 1:250,000 to 1:500,000. Aside from urine that darkens, the disease is relatively asymptomatic in childhood. As a result, the diagnosis is often overlooked early in life and not considered in many patients until they begin to manifest symptoms as adults. Features include pigment deposition (ochronosis) on the eyes, ears, and hands; early-onset, progressive arthritis, particularly of the spine and large joints; valvular heart disease; and renal and prostate stones. Management continues to be symptomatic, but specific treatment with nitisinone appears promising with additional clinical trials being planned.

scholarly journals DEVELOPMENTAL DELAY IN CHILDHOOD CATARACT: A CAVEAT MARINESCO-SJÖGREN SYNDROME

2014 ◽  
Vol 04 (03) ◽  
pp. 121-123
Author(s):  
Rathika D. Shenoy ◽  
Deepthi R. V. ◽  
Nutan Kamath ◽  
Sumana J. Kamath
Keyword(s):  
Developmental Delay ◽  
Early Onset ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Sjögren Syndrome ◽  
Sjogren Syndrome ◽  
Cerebellar Hypoplasia ◽  
Psychomotor Delay ◽  
Neuro Imaging ◽  
Childhood Cataract

AbstractWe report on a child with Marinesco-Sjögren Syndrome, a rare autosomal recessive disorder characterised by early onset cataract, psychomotor delay, cerebellar hypoplasia and myopathy. The presentation, neuro-imaging and muscle biopsy features are discussed.

scholarly journals Ochronotic Involvement of the Aortic and Mitral Valves in a 72-Year-Old Man

2015 ◽  
Vol 42 (1) ◽  
pp. 84-86 ◽  
Author(s):  
Atakan Atalay ◽  
Ugur Gocen ◽  
Yuksel Basturk ◽  
Erkan Kozanoglu ◽  
Hafize Yaliniz
Keyword(s):  
Heart Disease ◽  
Mitral Valve ◽  
Aortic Stenosis ◽  
Valve Replacement ◽  
Valvular Heart Disease ◽  
Metabolic Disorder ◽  
Autosomal Recessive ◽  
Homogentisic Acid ◽  
Mitral Insufficiency ◽  
Mitral Valves

Ochronosis, an autosomal recessive metabolic disorder, causes an excess of homogentisic acid that results in adverse pigmentation, calcification, and inflammation of cartilaginous and other tissues. Cardiovascular abnormalities are less frequently reported than are other manifestations. In rare cases, ochronosis can cause valvular heart disease. We report the case of a 72-year-old man with aortic stenosis and mitral insufficiency who was diagnosed with ochronosis while undergoing surgical aortic and mitral valve replacement. We discuss the history and surgical management of alkaptonuric ochronosis.

scholarly journals A Fourteen Years Old Boy with Cholesterol Ester Storage Disease

1970 ◽  
Vol 10 (2) ◽  
pp. 146-148
Author(s):  
Faizul Islum Chowdhury ◽  
Ahmedul Kabir ◽  
Jayanta Banik ◽  
Pinaki Paul ◽  
Mostofa Kamal ◽  
...  
Keyword(s):  
Liver Biopsy ◽  
Cholesterol Ester ◽  
Autosomal Recessive ◽  
Storage Disease ◽  
Specific Treatment ◽  
Autosomal Recessive Disorder ◽  
Lysosomal Storage Diseases ◽  
Lysosomal Storage ◽  
Acid Lipase ◽  
Storage Diseases

Cholesterol ester storage disease (CESD) is a rare autosomal recessive disorder resulting from lysosomal acid lipase deficiency and is usually characterized by hepatomegaly and hyperlipidemia. It is diagnosed by liver biopsy which characteristically shows microvesicular steatosis and periportal fibrosis. Here we report a fourteen years old boy who had presented with unexplained hepatomegaly, and hyperlipidemia determined incidentally. He was finally diagnosed as a case of cholesterol ester storage disease by liver biopsy. Though there is yet no specific treatment for CESD; however, the early detection of cases would make the timely control of complications possible. Keyword: Cholesterol Ester Storage Disease, Lysosomal Storage Diseases, Lipidoses    doi: 10.3329/jom.v10i2.2835   J MEDICINE 2009; 10 : 146-148

scholarly journals Enteroendocrine Dysfunction in Two Saudi Sisters

2021 ◽  
pp. 290-295
Author(s):  
Amna Basheer M. Ahmed ◽  
Badr M. Rasheed Alsaleem
Keyword(s):  
Early Diagnosis ◽  
Effective Treatment ◽  
Early Onset ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Proprotein Convertase ◽  
Whole Exome ◽  
Osmotic Diarrhea ◽  
Symptoms And Signs

Proprotein convertase (PC) deficiency is a rare autosomal recessive disorder caused by mutations in proprotein convertase subtilisin/kexin type 1 (PCSK1). It is characterized by severe malabsorptive early-onset diarrhea, obesity, and systemic endocrinopathies. Only few cases have been reported in the literature; we have add two female sisters with some difference in clinical progress. Herein, we describe two sisters with congenital osmotic diarrhea diagnosed with PC1/3 deficiency, causing malabsorptive diarrhea and enteroendocrine dysfunction, who presented with chronic enteropathy with hypernatremia but with different expressivity. PC1/3 deficiency presents with symptoms and signs that mimic glucose-galactose malabsorption. Because of the clinical paucity and heterogeneity of congenital enteropathies, whole-exome sequencing may be of great help towards early diagnosis and effective treatment.

Recent clinical trials in valvular heart disease

2017 ◽  
Vol 32 (4) ◽  
pp. 343-347 ◽  
Author(s):  
Daniel Kiss ◽  
Saif Anwaruddin
Keyword(s):  
Clinical Trials ◽  
Heart Disease ◽  
Valvular Heart Disease

scholarly journals Ellis Van-Creveld Syndrome in an Ethnic Group in Nepal: Case Report with Review of Literature

2016 ◽  
Vol 36 (2) ◽  
pp. 188-192
Author(s):  
Eva Gauchan ◽  
Prakash Sharma
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Case Report ◽  
Ethnic Group ◽  
Congenital Heart ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Review Of Literature ◽  
Dental Abnormalities ◽  
Ellis Van Creveld Syndrome

Ellis van-Creveld syndrome is a rare autosomal recessive disorder characterized by acromesomelic dwarfism, postaxial polydactyly, oro-dental abnormalities and congenital heart disease. We are reporting three cases in two families of the same ethnic group from Western Nepal. Genetic testing should be done in this population in order to identify the mutation in the gene causing the syndrome.J Nepal Paediatr Soc 2016;36(2):188-192.

Papillon-Lefèvre Syndrome: Detrimental Periodontal Condition in the Affected Individuals

2020 ◽  
Author(s):  
Ayesha Hanif
Keyword(s):  
Case Report ◽  
Genetic Mapping ◽  
Early Onset ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Periodontal Pathogens ◽  
Cathepsin C ◽  
Periodontal Condition ◽  
Periodontal Destruction

This paper aims to highlight the detrimental periodontal condition in patients with Papillon-Lefèvre syndrome (PLS) and the pivotal role of a Periodontist in the diagnosis of the condition. PLS is also known as palmo-plantar keratosis (PPK) with an unusual periodontal status. Uncontrolled early-onset periodontitis, which affects both primary and permanent dentitions alike, is a hallmark of the syndrome. PLS patients’ exhibit defected neutrophil chemotactic function due to substandard activity of Cathepsin C (CTSC) gene. The result is the failure of elimination of periodontal pathogens that leads to severe periodontal destruction. We reported a case of an 11 years old Pakistani girl affected with PLS whose parents are consanguineously married. Since PLS is a rare autosomal recessive disorder and multiple consanguinity in a family, increases the risk of the occurrence of the syndrome in the off springs, the case report also highlights the importance of pre-marital genetic mapping and conception counseling for the families.

Identification of a novel mutation (C321X) in HJV

Blood ◽  
2004 ◽  
Vol 104 (7) ◽  
pp. 2176-2177 ◽  
Author(s):  
Franklin W. Huang ◽  
Isabel Rubio-Aliaga ◽  
James P. Kushner ◽  
Nancy C. Andrews ◽  
Mark D. Fleming
Keyword(s):  
Family History ◽  
Iron Overload ◽  
Early Onset ◽  
Autosomal Recessive ◽  
Novel Mutation ◽  
Autosomal Recessive Disorder ◽  
Termination Codon ◽  
Compound Heterozygous ◽  
Juvenile Hemochromatosis ◽  
History Of

Abstract Juvenile hemochromatosis is a rare autosomal recessive disorder characterized by the early onset of severe iron overload. We report the occurrence of compound heterozygous mutations in hemojuvelin (HJV), including a termination codon, in a patient with juvenile hemochromatosis but no family history of iron disorders. (Blood. 2004;104:2176-2177)

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