scholarly journals Hurler’s disease presenting with quadriparesis and short stature

2021 ◽  
Vol 8 (5) ◽  
pp. 927
Author(s):  
Anuradha Sanadhya ◽  
Lakhan Poswal ◽  
Nitin Gupta ◽  
Shivani Sharma ◽  
Pooja Yadav
Keyword(s):  
Short Stature ◽  
Definitive Diagnosis ◽  
Lysosomal Storage ◽  
Intellectual Impairment ◽  
Dysostosis Multiplex ◽  
Corneal Clouding ◽  
Body Tissues ◽  
Different Types ◽  
Spastic Quadriparesis ◽  
Coarse Facies

Mucopolysachharidosis are a broad spectrum of rare lysosomal storage disorder caused by deficiency of enzymes responsible for degradation of glycosaminoglycans (GAG), thus leading to accumulation of GAG in various body tissues leading to somatic and neurological manifestations. General phenotype includes coarse facies, corneal clouding, hepatosplenomegaly, dysostosis multiplex etc. Detailed clinical and radiological evaluation and identification of type of GAG excreted in urine narrows the diagnostic possibilities. Definitive diagnosis requires assay of specific enzymes in various tissues. Till date 14 different types of MPS including subtypes are identified. We report a case of 4 years old male child presented with short stature, spastic quadriparesis, bony abnormalities and hepatosplenomegaly without intellectual impairment.

scholarly journals Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) in the pre-Columbian culture of Colombia

2014 ◽  
pp. 85-88 ◽  
Author(s):  
Harry Pachajoa ◽  
Carlos Armando Rodriguez
Keyword(s):  
Lysosomal Storage Disorder ◽  
Autosomal Recessive ◽  
Pacific Coast ◽  
Facial Dysmorphism ◽  
Mucopolysaccharidosis Type ◽  
Lysosomal Storage ◽  
Dysostosis Multiplex ◽  
Mucopolysaccharidosis Type Vi ◽  
Corneal Clouding ◽  
Arylsulfatase B

Mucopolysaccharidosis type VI or Maroteaux Lamy syndrome is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B, the clinical features include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism, with intelligence usually normal. We present evidence of the possible existence of Maroteaux Lamy syndrome in pre-Columbian pottery 2000 years ago, in the Colombo Ecuadorian Pacific coast of the Tumaco-Tolita culture.

scholarly journals Glycosaminoglycan Storage Disorders: A Review

2012 ◽  
Vol 2012 ◽  
pp. 1-16 ◽  
Author(s):  
Maria Francisca Coutinho ◽  
Lúcia Lacerda ◽  
Sandra Alves
Keyword(s):  
Central Nervous System ◽  
Molecular Basis ◽  
Clinical Manifestations ◽  
Lysosomal Storage ◽  
Dysostosis Multiplex ◽  
Cell Tissue ◽  
Degrees Of Severity ◽  
Coarse Facies ◽  
Storage Disorders ◽  
Progressive Course

Impaired degradation of glycosaminoglycans (GAGs) with consequent intralysosomal accumulation of undegraded products causes a group of lysosomal storage disorders known as mucopolysaccharidoses (MPSs). Characteristically, MPSs are recognized by increased excretion in urine of partially degraded GAGs which ultimately result in progressive cell, tissue, and organ dysfunction. There are eleven different enzymes involved in the stepwise degradation of GAGs. Deficiencies in each of those enzymes result in seven different MPSs, all sharing a series of clinical features, though in variable degrees. Usually MPS are characterized by a chronic and progressive course, with different degrees of severity. Typical symptoms include organomegaly, dysostosis multiplex, and coarse facies. Central nervous system, hearing, vision, and cardiovascular function may also be affected. Here, we provide an overview of the molecular basis, enzymatic defects, clinical manifestations, and diagnosis of each MPS, focusing also on the available animal models and describing potential perspectives of therapy for each one.

scholarly journals The massage approach of Avicenna in the Canon of Medicine

2019 ◽  
Vol 17 (1) ◽  
pp. 103-114
Author(s):  
Murat Çetkin ◽  
İlhan Bahşi ◽  
Mustafa Orhan
Keyword(s):  
The Body ◽  
Western World ◽  
Health And Wellness ◽  
State Of Health ◽  
Important Work ◽  
Historical Process ◽  
Body Tissues ◽  
Different Types ◽  
Important Position ◽  
Natural Healing

Massage is the manipulation of the body tissues by using techniques, such as rubbing, kneading, pressing, and rolling to sustain a state of health and wellness. Massage is one of the oldest and most natural healing applications in human history. Avicenna (980 – 1037) gained a very important position in the medical world with his most important work, the Canon of Medicine, known as the holy book of medicine in the Western world. Different types of massage were defined in the book. These were hard friction that braces the body, soft friction that relaxes the body, repeated friction that reduces the amount of fat in the body, moderately hard friction that improves the body, rough friction that leads the blood to the surface rapidly, gentle friction that increases blood flow in the application area, preparatory friction that prepares the body before exercise, and restorative friction that is applied after exercise which alleviates exhaustion. It may be seen that Avicenna, whose work shows influence of Greek and Roman physicians, was heavily influenced by Hippocrates and Galen. It is seen that the massage techniques and effect mechanisms defined by Avicenna about a thousand years ago have contributed a lot to the developments in massage through the historical process.

scholarly journals Hurler’s Syndrome - A Case Report (Mucopolysaccharidosis Type-1H)

2018 ◽  
Vol 24 (2) ◽  
pp. 148-151
Author(s):  
AHM Tohurul Islam ◽  
Elora A Leema ◽  
Tapos K Das ◽  
O Ibne Ali ◽  
MH Rahman ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Facial Dysmorphism ◽  
Low Grade ◽  
Intermittent Fever ◽  
Dysostosis Multiplex ◽  
College Hospital ◽  
Medical College ◽  
Corneal Clouding ◽  
Hurler’S Syndrome ◽  
Strong Suspicion

A girl named Tania, aged 5yrs was brought to Shaheed Ziaur Rahman Medical College Hospital, Bogra with the complains of swelling of both legs for 5days & low grade intermittent fever for 1month & she also had severe mental retardation, facial dysmorphism, hepatosplenomegaly, umbilical hernia, corneal clouding, large calvaria & features of dysostosis multiplex. Her clinical as well as radiological features arouse strong suspicion suffering from a rare genetic disease (autosomal recessive) hurler’s syndrome though it wasn’t confirmed by deficiency of specific enzyme or urinary excretion of GAG (glycosaminoglycan).TAJ 2011; 24(2): 148-151

Clinical Spectrum of Mucolipidosis Type IV

PEDIATRICS ◽  
1988 ◽  
Vol 81 (4) ◽  
pp. 602-602
Author(s):  
RAPHAEL WEITZ ◽  
GERTRUDE KOHN
Keyword(s):  
Psychomotor Retardation ◽  
Clinical Spectrum ◽  
Lysosomal Storage ◽  
Motor Delay ◽  
Mucolipidosis Type Iv ◽  
Corneal Clouding ◽  
Type Iv ◽  
History Of ◽  
Corneal Opacities ◽  
Mucolipidosis Type

To the Editor.— We read with interest the presentation by Amir et al1 concerning the clinical spectrum and natural history of mucolipidosis type IV. Based on their experience with 20 patients, they try to provide guidelines for the clinical diagnosis of this lysosomal storage disease. It appears that severe visual impairment (due mainly to corneal opacities, myopia, and retinal degeneration) and psychomotor retardation are the cardinal features of this entity. However, corneal clouding and mild motor delay in their early stages may frequently be missed by even experienced pediatricians and we recently examined a 15-month-old boy who was referred to us for evaluation of a possible congenital myopathy.

scholarly journals Clinical Manifestations and Diagnostic Challenges in Acute Porphyrias

2013 ◽  
Vol 2013 ◽  
pp. 1-6 ◽  
Author(s):  
Henry Trier ◽  
Vikram P. Krishnasamy ◽  
Pashtoon Murtaza Kasi
Keyword(s):  
End Stage Renal Disease ◽  
Laboratory Testing ◽  
Biosynthetic Pathway ◽  
Clinical Manifestations ◽  
Definitive Diagnosis ◽  
Enzyme Deficiency ◽  
Different Types ◽  
Acute Porphyrias ◽  
Stage Renal Disease ◽  
End Stage

The porphyrias are a group of disorders characterized by an enzyme deficiency in the heme biosynthetic pathway. These can be classified into either erythropoietic or hepatic forms depending on the site of the major enzyme deficiency. The diagnosis of acute porphyrias, however, can be very challenging due to overlapping features amongst the various types. Initial suspicion is based on a myriad of clinical manifestations, which then are confirmed by laboratory testing where available. Genetic testing is now also available for the different types of porphyrias, aiding in the definitive diagnosis. Here, we present a challenging case of porphyria in a patient with end-stage renal disease and present the diagnostic challenges associated with the case and the ways forward.

scholarly journals Effects of alcohol consumption in general, and wine in particular, on the risk of cancer development: a review

OENO One ◽  
2020 ◽  
Vol 54 (4) ◽  
pp. 813-832
Author(s):  
Pierre-Louis Teissedre ◽  
Zurine Rasines-Perea ◽  
Jean-Claude Ruf ◽  
Creina Stockley ◽  
Arina Oana Antoce ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Alcohol Consumption ◽  
Alcoholic Beverages ◽  
International Agency ◽  
Upper Aerodigestive Tract ◽  
Body Tissues ◽  
Increased Risk ◽  
Different Types ◽  
Lifestyle Pattern ◽  
Risk Of Cancer

Since 1988, alcohol has been classified as a Group 1 carcinogen, the highest level of risk, by the International Agency for Research on Cancer (IARC). In fact, alcohol consumption is the third leading risk factor for disease and mortality in Europe. It accounts for 4.65 % of the global burden of both injury and disease, making it one of the most preventable causes of injury and death. Tissues in closest contact with alcohol when it is ingested, such as those of the oral cavity, pharynx, esophagus and larynx, have at greater risk of becoming cancerous than other body tissues. The consumption of alcohol is also associated with an increased risk of stomach, colon, rectum, liver, female breast and ovarian cancers. Conversely, recent studies suggest that red wine components inhibit colony formation of human breast cancer and esophageal carcinoma cells, suggesting that wine-derived phenolic compounds may be inhibitory, in contrast to the alcohol component of wine. Because of a lack of systematic studies dealing with the different types of cancer and alcoholic beverages and wine in particular, in this narrative review we summarize the general risk of cancer linked to the consumption of alcoholic beverages, including wine, according to type of cancer, with 140 extracted relevant references from 1966 to 2020. Mostly epidemiological studies concerning large cohorts have been selected. For the cancers of the upper aerodigestive tract, liver, colorectum, breast cancer, pancreatic, prostate, an excessive consumption and/or misuse of alcoholic beverages is correlated with increased risk. Conversely a probable decreased risk has been found for renal/kidney cancers, as well as for Non-Hodgkin lymphomas, such as thyroid lymphomas, associated with the moderate consumption of alcoholic beverages. There is no evidence of ovarian, gastric, head and neck, and lung cancer being linked to the moderate consumption of alcoholic beverages. Cancer is a multifactorial disease, and many factors contribute to effects on health status, usually being both genetic and environmental. Habits (smoking, dietary/lifestyle pattern/ habits, physical activity), should also be taken into account when defining appropriate consumption frequencies for different types of alcoholic drink (wine, beer, spirits). Further research is needed related to wine consumption in the context of a healthy dietary and lifestyle pattern given health-promoting constituents of wine and its effects on cancer incidence.

scholarly journals Mucopolysaccharidosis Type II: A Kenyan Case Series

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
L. N. Wainaina Mungai ◽  
C. M. Njeru ◽  
L. A. Nyamai ◽  
M. Maina
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Metabolic Diseases ◽  
Central Nervous System Involvement ◽  
Case Series ◽  
Hunter Syndrome ◽  
Mucopolysaccharidosis Type ◽  
Lysosomal Storage ◽  
Multiple Organs ◽  
Body Tissues

Hunter syndrome, or mucopolysaccharidosis type 2 (MPS2), is a lysosomal storage disorder associated with the involvement of multiple organs such as the central nervous system, hepatomegaly, musculoskeletal, respiratory, cardiac, and hearing. This is due to the accumulation of glycosaminoglycans in body tissues leading to organ failure. Since the laboratories in Kenya do not screen for metabolic diseases, there is the likelihood of assumption that these patients do not exist. These first cases were referred from the eastern part of Kenya where the majority of inhabitants are from the same ethnic community. It was noted that there was increased mortality among boys below the age of 20 years, and hence, the families sought for help in the national referral and teaching hospital. The case series is meant to show that these cases exist and the majority of the patients may be dying before the diagnosis is made. There are no data on MPS2 from Kenya, and the prevalence and incidence are unknown. In this retrospective study, we present a case series of 6 Kenyan boys with MPS2 from a national referral hospital. They were part of 17 patients who had had their blood analyzed for metabolic diseases. All of them were symptomatic with varying degrees of central nervous system involvement. They had undetectable levels of iduronate-2-sulfatase (I2S) enzyme, and three genetic mutations were detected in the IDS gene.

scholarly journals Differences in MPS I and MPS II Disease Manifestations

2021 ◽  
Vol 22 (15) ◽  
pp. 7888
Author(s):  
Christiane S. Hampe ◽  
Brianna D. Yund ◽  
Paul J. Orchard ◽  
Troy C. Lund ◽  
Jacob Wesley ◽  
...  
Keyword(s):  
Dermatan Sulfate ◽  
Treatment Options ◽  
Neurological Involvement ◽  
Type I ◽  
Ionic Balance ◽  
Lysosomal Storage ◽  
Enzyme Replacement ◽  
Mps Ii ◽  
Corneal Clouding ◽  
Mps I

Mucopolysaccharidosis (MPS) type I and II are two closely related lysosomal storage diseases associated with disrupted glycosaminoglycan catabolism. In MPS II, the first step of degradation of heparan sulfate (HS) and dermatan sulfate (DS) is blocked by a deficiency in the lysosomal enzyme iduronate 2-sulfatase (IDS), while, in MPS I, blockage of the second step is caused by a deficiency in iduronidase (IDUA). The subsequent accumulation of HS and DS causes lysosomal hypertrophy and an increase in the number of lysosomes in cells, and impacts cellular functions, like cell adhesion, endocytosis, intracellular trafficking of different molecules, intracellular ionic balance, and inflammation. Characteristic phenotypical manifestations of both MPS I and II include skeletal disease, reflected in short stature, inguinal and umbilical hernias, hydrocephalus, hearing loss, coarse facial features, protruded abdomen with hepatosplenomegaly, and neurological involvement with varying functional concerns. However, a few manifestations are disease-specific, including corneal clouding in MPS I, epidermal manifestations in MPS II, and differences in the severity and nature of behavioral concerns. These phenotypic differences appear to be related to different ratios between DS and HS, and their sulfation levels. MPS I is characterized by higher DS/HS levels and lower sulfation levels, while HS levels dominate over DS levels in MPS II and sulfation levels are higher. The high presence of DS in the cornea and its involvement in the arrangement of collagen fibrils potentially causes corneal clouding to be prevalent in MPS I, but not in MPS II. The differences in neurological involvement may be due to the increased HS levels in MPS II, because of the involvement of HS in neuronal development. Current treatment options for patients with MPS II are often restricted to enzyme replacement therapy (ERT). While ERT has beneficial effects on respiratory and cardiopulmonary function and extends the lifespan of the patients, it does not significantly affect CNS manifestations, probably because the enzyme cannot pass the blood–brain barrier at sufficient levels. Many experimental therapies, therefore, aim at delivery of IDS to the CNS in an attempt to prevent neurocognitive decline in the patients.

scholarly journals Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches

Biomolecules ◽  
2021 ◽  
Vol 11 (7) ◽  
pp. 964
Author(s):  
Enrico Moro
Keyword(s):  
Intellectual Disabilities ◽  
Molecular Basis ◽  
Clinical Symptoms ◽  
Lysosomal Storage Disorders ◽  
Lysosomal Storage ◽  
Therapeutic Approaches ◽  
Progressive Muscle Weakness ◽  
Corneal Clouding ◽  
Storage Disorders ◽  
Bone Deformities

Lysosomal storage disorders (LSDs) are a group of 60 rare inherited diseases characterized by a heterogeneous spectrum of clinical symptoms, ranging from severe intellectual disabilities, cardiac abnormalities, visceromegaly, and bone deformities to slowly progressive muscle weakness, respiratory insufficiency, eye defects (corneal clouding and retinal degeneration), and skin alterations [...]

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