scholarly journals Gastrointestinal Manifestations in Mucopolysaccharidosis Type III: Review of Death Certificates and the Literature

2021 ◽  
Vol 10 (19) ◽  
pp. 4445
Author(s):  
Sophie Thomas ◽  
Uma Ramaswami ◽  
Maureen Cleary ◽  
Medeah Yaqub ◽  
Eva M. Raebel
Keyword(s):  
Cause Of Death ◽  
Causes Of Death ◽  
Clinical Feature ◽  
Mucopolysaccharidosis Type ◽  
Death Certificates ◽  
Type Iii ◽  
Mucopolysaccharidosis Type Iii ◽  
Gi Symptoms ◽  
Tract Infections ◽  
Mps Iii

Background: Mucopolysaccharidosis type III (MPS III, Sanfilippo disease) is a life-limiting recessive lysosomal storage disorder caused by a deficiency in the enzymes involved in degrading glycosaminoglycan heparan sulfate. MPS III is characterized by progressive deterioration of the central nervous system. Respiratory tract infections have been reported as frequent and as the most common cause of death, but gastrointestinal (GI) manifestations have not been acknowledged as a cause of concern. The aim of this study was to determine the incidence of GI problems as a primary cause of death and to review GI symptoms reported in published studies. Methods: Causes of death from 221 UK death certificates (1957–2020) were reviewed and the literature was searched to ascertain reported GI symptoms. Results: GI manifestations were listed in 5.9% (n = 13) of death certificates. Median (IQR) age at death was 16.7 (5.3) years. Causes of death included GI failure, GI bleed, haemorrhagic pancreatitis, perforation due to gastrostomies, paralytic ileus and emaciation. Twenty-one GI conditions were reported in 30 studies, mostly related to functional GI disorders, including diarrhoea, dysphagia, constipation, faecal incontinence, abdominal pain/distension and cachexia. Conclusions: GI manifestations may be an under-recognized but important clinical feature of MPS III. Early recognition of GI symptoms and timely interventions is an important part of the management of MPS III patients.

scholarly journals Hip pathologies in mucopolysaccharidosis type III

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Sandra Rafaela Breyer ◽  
Eik Vettorazzi ◽  
Leonie Schmitz ◽  
Amit Gulati ◽  
Katharina Maria von Cossel ◽  
...  
Keyword(s):  
Femoral Head ◽  
Hip Dysplasia ◽  
Intermediate Phenotype ◽  
Musculoskeletal Symptoms ◽  
Mucopolysaccharidosis Type ◽  
Severe Phenotype ◽  
Type Iii ◽  
Mucopolysaccharidosis Type Iii ◽  
Center Edge ◽  
Mps Iii

Abstract Background Mucopolysaccharidosis type III (MPS III) comprises a group of rare lysosomal storage diseases. Although musculoskeletal symptoms are less pronounced than in other MPS subtypes, pathologies of hip and spine have been reported in MPS III patients. The purpose of this study was to describe hip pathologies and influencing parameters in MPS III patients. Methods A retrospective chart review was performed for 101 MPS III patients. Thirty-two patients met the inclusion criteria of enzymatically or genetically confirmed diagnosis and anteroposterior radiograph of the hips. Modified Ficat classification, Wiberg’s center-edge angle, and Reimer’s migration percentage were measured. Results The mean age at data assessment was 11.0 years (SD 5.7). Osteonecrosis of the femoral head was observed in 17/32 patients. No statistically significant association was found between these changes and age, sex, or MPS III subtype. Patients with a severe phenotype showed significantly higher rates of osteonecrosis (14/17) than patients with an intermediate phenotype. Hip dysplasia was present in 9/32 patients and was significantly associated with osteonecrosis of the femoral head (p = 0.04). Conclusions The present study demonstrates a high rate of hip pathologies in MPS III patients. Hip dysplasia and severe phenotype were significantly correlated with osteonecrosis of the femoral head. Therefore, radiographs of the hips are highly recommended in baseline and follow-up assessments of MPS III patients. Trial registration Retrospectively registered.

Interleukin-1 plays a central role in behaviour abnormalities in mucopolysaccharidosis type III (MPS III)

2018 ◽  
Vol 123 (2) ◽  
pp. S24-S25 ◽  
Author(s):  
Brian W. Bigger ◽  
Rebecca Holley ◽  
Stuart Ellison ◽  
Claire O'Leary ◽  
Emmanuel Pinteaux ◽  
...  
Keyword(s):  
Interleukin 1 ◽  
Mucopolysaccharidosis Type ◽  
Type Iii ◽  
Mucopolysaccharidosis Type Iii ◽  
Mps Iii

What Can We Learn from the Parents of Children Affected with Mucopolysaccharidosis Type III-A in Israel?

2021 ◽  
pp. 45-49
Author(s):  
Shiri Liber ◽  
Orna Staretz-Chacham ◽  
Mor Kishon ◽  
Ben Pode-Shakked ◽  
Odelia Chorin ◽  
...  
Keyword(s):  
Heparan Sulfate ◽  
Clinical Manifestations ◽  
Ethnic Origin ◽  
Global Developmental Delay ◽  
Mucopolysaccharidosis Type ◽  
Lysosomal Storage ◽  
Delay In Diagnosis ◽  
Type Iii ◽  
Mucopolysaccharidosis Type Iii ◽  
Mps Iii

Sanfilippo Syndrome, or mucopolysaccharidosis type III (MPS III), is a group of autosomal-recessive lysosomal storage disorders leading to tissue accumulation of heparan sulfate. MPS III is caused by deficiency in one of 4 enzymes involved in lysosomal degradation of heparan sulfate. Based on the relevant enzyme deficiency, 4 types have been recognized. MPS III constitutes a progressive neurodegenerative and systemic disorder. Parents of children diagnosed with MPS III were interviewed using a retrospective questionnaire based on the known clinical manifestations of MPS III. Eight patients from 4 unrelated families of varied ethnic origin were included. All children were diagnosed with MPS type III-A. Average age at diagnosis was 6.1 years. The most common early clinical manifestations leading to parental suspicion of illness were speech delay and coarse facial features. All children were reported to have global developmental delay, sleep disorders, recurrent infections, hyperactivity, and decreased hearing. The time from first medical inquiry until diagnosis was over 2 years on average, consistent with the delay in diagnosis described in the literature. MPS III children frequently undergo early and repeated ear, nose and throat surgeries, thus we suggest that a high index of suspicion is warranted in relevant clinical circumstances.

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