Related Experiment Video

Updated: May 30, 2026

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
05:32

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia

Published on: January 19, 2022

Difficulties in diagnosing slowly progressive mucopolysaccharidosis VI: A case series

Maurizio Scarpa1, Ebba Buffone, Philipp La Marca

  • 1Department of Pediatrics, University of Padova, Padova, Italy.

Journal of Pediatric Rehabilitation Medicine
|July 28, 2011
PubMed

Insights

Two sisters with attenuated mucopolysaccharidosis VI (MPS VI) were diagnosed late, highlighting the need for increased awareness of this rare lysosomal storage disorder among specialists.

Area of Science:

  • Medical Genetics
  • Biochemistry
  • Rare Diseases

Background:

  • Mucopolysaccharidosis VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a rare, heterogeneous lysosomal storage disorder.
  • It results from a deficiency in the enzyme arylsulfatase B, crucial for glycosaminoglycan degradation.

Purpose of the Study:

  • To report two cases of adult sisters with the attenuated form of MPS VI.
  • To emphasize the diagnostic challenges and the importance of recognizing clinical features suggestive of MPS VI.

Main Methods:

  • Case report detailing the clinical presentation and diagnostic journey of two affected sisters.
  • Review of characteristic clinical manifestations associated with MPS VI.

Main Results:

  • Both sisters were misdiagnosed for over 30 years.
  • Presenting symptoms included mild short stature, coarse facial features, skeletal dysmorphisms, carpal tunnel syndrome, heart valve disease, and spinal cord compression.

Conclusions:

  • Late diagnosis of attenuated MPS VI is common due to its heterogeneous presentation.
  • Increased awareness of MPS VI clinical features among neurologists, rheumatologists, and other specialists is crucial for timely referral and diagnosis.

More Related Videos

Examination of Oral Candida Infection in Primary Sjögren's Syndrome Patients05:26

Examination of Oral Candida Infection in Primary Sjögren's Syndrome Patients

Published on: March 1, 2024

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes08:56

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes

Published on: October 10, 2025

Related Concept Videos

Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation01:21

Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation

Clinical manifestationsPeripheral Arterial Disease (PAD) manifests through a range of symptoms, from the characteristic intermittent claudication to atypical presentations and severe complications in advanced stages. Intermittent claudication, a hallmark symptom of PAD, presents as exercise-induced muscle pain that typically resolves within minutes of rest. This pain is reproducible and stems from inadequate blood flow, leading to the accumulation of lactic acid produced during anaerobic...
Chronic Pancreatitis II: Pathophysiology01:21

Chronic Pancreatitis II: Pathophysiology

Chronic pancreatitis is a progressive and irreversible inflammation of the pancreas, most often caused by long-term alcohol abuse, but it can also be related to ductal obstruction, smoking, or genetic factors.Chronic pancreatitis occurs when the pancreas is repeatedly exposed to harmful agents like alcohol, smoking, ductal obstruction, or genetic predisposition. These factors lead to the release of toxic metabolites and inflammatory cytokines, sustaining chronic inflammation in the pancreatic...