scholarly journals Management of type IV A mucopolysaccharidosis or Marquio A syndrome (A case report)

2019 ◽  
Vol 6 (2) ◽  
pp. 121-124
Author(s):  
Amina Benbellal ◽  
◽  
Hanène Belabbassi ◽  
Sarrah Ait Ziane ◽  
Houria Kaced
Keyword(s):  
Case Report ◽  
Type Iv ◽  
Morquio A ◽  
Mps Iva ◽  
Morquio A Syndrome

La maladie de Morquio A, ou mucopolysaccharidose de type IV A (Morquio A syndrome, MPS IVA), est une maladie génétique rare ; multisystémique, et extrêmement invalidante. Elle est liée à un déficit enzymatique en N-acétylgalactosamine-6-sulfate sulfatase (GALNS), enzyme lysosomale responsable de la dégradation du kératane sulfate (KS) et de la chondroïtine-6-sulfate (C6S), éléments présents principalement dans le cartilage et la cornée. Cette maladie métabolique se manifeste principalement par une atteinte osseuse constante, sous forme d’une dysplasie spondylo-épi-métaphysaire progressive, et des complications ophtalmologiques, auditives et cardiaques plus modérées d’apparition tardive. Nous relatons le cas d’un enfant âgé de 8 ans qui présente cette pathologie, en étayant ses caractéristiques cliniques, et ses modalités thérapeutiques pluridisciplinaires.

scholarly journals Pediatric Dental Management of an Uncommon Case of Mucopolysaccharidosis Type IV A (Morquio A Syndrome): A Case Report of a Three-Year Follow-Up

2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Andrea Gómez-González ◽  
Miguel Ángel Rosales-Berber ◽  
Paola De Ávila-Rojas ◽  
Amaury Pozos-Guillén ◽  
Arturo Garrocho-Rangel
Keyword(s):  
Case Report ◽  
Mucopolysaccharidosis Type ◽  
Type Iv ◽  
Morquio A ◽  
Dental Management ◽  
Histochemical Tests ◽  
Morquio Syndrome ◽  
Uncommon Case ◽  
Morquio A Syndrome

Mucopolysaccharidosis type IV A or Morquio syndrome is an uncommon inherited metabolic condition caused by the deficient intralysosomal storage of glycosaminoglycans. Diagnosis is typically based on clinical examination, skeletal radiographs, and histochemical tests in blood cells or fibroblasts. It is characterized by evident skeletal deformities, poor joint mobility, severe growth deficit, occlusal anomalies, and enamel defects. The aim of the present clinical case report is to describe the general oral management provided to a 6-year-old female patient and its corresponding evolution for more than three years.

scholarly journals Treating a teenager with Morquio A syndrome (mucopolysaccharidosis IV A) with Vimizim

2021 ◽  
Vol 66 (4) ◽  
pp. 109-117
Author(s):  
E. E. Gurinova ◽  
A. L. Sukhomyasova ◽  
A. N. Semyachkina ◽  
P. V. Ochirova
Keyword(s):  
Muscle Tone ◽  
Interdisciplinary Approach ◽  
Fine Motor ◽  
Enzyme Replacement ◽  
Lack Of Information ◽  
Morquio A ◽  
Mps Iva ◽  
Mucopolysaccharidosis Type Iva ◽  
Morquio A Syndrome ◽  
Elosulfase Alfa

The article describes a clinical case of enzyme replacement therapy (ERT) with elosulfase alfa for a teenager with mucopolysaccharidosis type IVA (MPS IVA, Morquio A syndrome). Treatment was started quite late, at the age of 12, against the background of a severe course of Morquio A syndrome. Nevertheless, the child showedan improvement in enduranceand fine motor skills, and an increase in muscle tone. The article discusses lack of information on modern methods of enzymereplacement therapy, as well as the limitations of this type of therapy. The paper emphasizes the need for an interdisciplinary approach to treat such diseases and alleviate the condition of patients.

scholarly journals Modelling Morquio A syndrome: an anthropometric study of body characteristics and stature

2020 ◽  
Author(s):  
Agnieszka Różdżyńska-Świątkowska ◽  
Krzysztof Szklanny ◽  
Jolanta Marucha ◽  
Anna Tylki-Szymańska
Keyword(s):  
General Population ◽  
Body Height ◽  
Lower Limbs ◽  
Lysosomal Storage ◽  
Mean Values ◽  
Morquio A ◽  
Mps Iva ◽  
Characteristic Features ◽  
Body Stature ◽  
Morquio A Syndrome

Abstract Background: Morquio A syndrome, or mucopolysaccharidosis (MPS) IVA is an autosomal recessive, life-limiting lysosomal storage disease caused by deficient activity of the enzyme galactosamine-6-sulfatase. Common early symptoms such as abnormalities of body stature can facilitate timely diagnosis. The aim of this study was to create a pattern of face and body stature based on anthropometric measurements taken from a cohort of Polish patients with MPS IVA. Methods: Analysis of 11 somatometric and 14 craniofacial features was performed on 20 patients with MPS IVA, aged from 3 months to 26 years. Diagnosis of MPS IVA was confirmed by enzymatic and molecular analysis. Two-tailed t-tests were used to compare mean values for body length and weight at birth between the MPS IVA patients and the general population. To show the degree and direction of deviation z-scores were calculated and then used to construct a model of an average MPS IVA patient. Results: Mean values for body height and weight at birth were greater for boys than for the general population. The observed pattern of head and body shape indicated that dwarfism occurred with increasing age as a result of relatively short trunk and lower limbs. Skeletal abnormalities included a bell-shaped chest with ratio of chest depth and chest width was significantly above the norm. The head and neck were relatively elongated in comparison to body height and tucked between narrow shoulders. The head was narrow and elongated, while the nose was short with wide nostrils. Conclusions: Multiple measurements – including age ranges – allowed the creation of a model that showed the most characteristic features of the MPS IVA phenotype.

scholarly journals Modeling Morquio A Syndrome: An Anthropometric Study of Body Characteristics and Stature

Diagnostics ◽  
2020 ◽  
Vol 10 (2) ◽  
pp. 116
Author(s):  
Agnieszka Różdżyńska-Świątkowska ◽  
Krzysztof Szklanny ◽  
Jolanta Marucha ◽  
Anna Tylki-Szymańska
Keyword(s):  
General Population ◽  
Body Height ◽  
Anthropometric Measurements ◽  
Lower Limbs ◽  
Lysosomal Storage ◽  
Mean Values ◽  
Morquio A ◽  
Mps Iva ◽  
Body Stature ◽  
Morquio A Syndrome

Background: Morquio A syndrome or mucopolysaccharidosis (MPS) IVA is an autosomal recessive, life-limiting lysosomal storage disease caused by deficient activity of the enzyme galactosamine-6-sulfatase. Common early symptoms such as abnormalities of body stature can facilitate timely diagnosis. This study aimed to create a pattern of face and body stature based on anthropometric measurements taken from a cohort of Polish patients with MPS IVA. Methods: Analysis of 11 somatometric and 14 craniofacial features was performed on 20 patients with MPS IVA, aged from 3 months to 26 years. The diagnosis of MPS IVA was confirmed by enzymatic and molecular analysis. Two-tailed t-tests were used to compare mean values for body length and weight at birth between the MPS IVA patients and the general population. To show the degree and direction of deviation z-scores were calculated and then used to construct a model of an average MPS IVA patient. Results: Mean values for body height and weight at birth were greater for boys than for the general population. The observed pattern of head and body shape indicated that dwarfism occurred with age as a result of the relatively short trunk and lower limbs. Skeletal abnormalities included a bell-shaped chest with the ratio of chest depth to chest width being significantly above the norm. The head and neck were relatively elongated, in comparison to body height, and tucked between narrow shoulders. The head had dolichocephalic shape, while the nose was short with wide nostrils. Conclusions: Multiple anthropometric measurements, including age ranges, allowed for the creation of a model that showed the most characteristic features of the MPS IVA phenotype.

scholarly journals Bisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic Phenotype

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Albina Tummolo ◽  
Orazio Gabrielli ◽  
Alberto Gaeta ◽  
Maristella Masciopinto ◽  
Lucia Zampini ◽  
...  
Keyword(s):  
Therapeutic Option ◽  
Keratan Sulfate ◽  
Inherited Metabolic Disorder ◽  
Allogenic Bone ◽  
Enzyme Replacement ◽  
Morquio A ◽  
Mps Iva ◽  
Or Gene ◽  
Mucopolysaccharidosis Type Iva ◽  
Morquio A Syndrome

Morquio A syndrome (Mucopolysaccharidosis type IVA) (MPS IVA) is a rare inherited metabolic disorder characterized by the defective degradation of keratan sulfate and chondroitin-6-sulfate. Classically, MPS IVA patients present with severe multisystemic involvement and have a short life expectancy. Attenuated forms with clinical features limited to minor skeletal abnormalities and short stature have also been described, sometimes associated to an early-onset osteoporotic phenotype. No treatment with allogenic bone marrow transplantation or gene therapy is currently available for Morquio A syndrome, and enzyme replacement therapy is under evaluation. We report a case of MPS IVA, who manifested tardily attenuated phenotype and significant bone mass reduction, which was treated with a bisphosphonate (BPN), resulting in an improvement of X-ray skeletal aspects and functional bone performance. We suggest that the use of bisphosphonates may be an interesting supportive therapeutic option for Morquio A patients with osteoporotic phenotype, but further studies involving more patients are necessary to confirm our findings.

scholarly journals A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months

2020 ◽  
Vol 21 (3) ◽  
pp. 989
Author(s):  
Akari Nakamura-Utsunomiya ◽  
Toshio Nakamae ◽  
Reiko Kagawa ◽  
Shuhei Karakawa ◽  
Sonoko Sakata ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Body Height ◽  
Decompression Surgery ◽  
Lysosomal Storage ◽  
Enzyme Replacement ◽  
Morquio A ◽  
Mps Iva ◽  
Morquio A Syndrome ◽  
Elosulfase Alfa

Background: Morquio A syndrome, mucopolysaccharidosis type IVA (MPS IVA), is a lysosomal storage disorder caused by the deficient activity of N-acetylgalactosamine-6-sulfatase (GalNac6S), due to alterations in the GALNS gene. This disorder results in marked abnormalities in bones and connective tissues, and affects multiple organs. Here, we describe the clinical course of a Japanese boy with MPS IVA who began enzyme replacement therapy (ERT) at the age of 24 months. Patient: the patient presented for kyphosis treatment at 22 months of age. An X-ray examination revealed dysostosis multiplex. Uronic acids were elevated in the urine and the keratan sulfate (KS) fraction was predominant. The leukocyte GalNac6S enzyme activity was extremely low. The patient exhibited the c.463G > A (p.Gly155Arg) mutation in GALNS. Based on these findings, his disease was diagnosed as classical (severe) Morquio A syndrome. An elosulfase alfa infusion was initiated at the age of 24 months. The patient’s body height improved from −2.5 standard deviation (SD) to −2 SD and his physical activity increased during the first 9 months on ERT. However, he gradually developed paralysis in the lower legs with declining growth velocity, which required cervical decompression surgery in the second year of the ERT. The mild mitral regurgitation, serous otitis media, and mild hearing loss did not progress during treatment. Conclusion: early initiation of the elosulfase alfa to our patient showed good effects on the visceral system and muscle strength, while its effect on bones appeared limited. Careful observation is necessary to ensure timely surgical intervention for skeletal disorders associated with neurological symptoms. Centralized and multidisciplinary management is essential to improve the prognosis of pediatric patients with MPS IVA.

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