Case Report Mucopolysaccroidosis

Case Report Mucopolysaccroidosis

Dr Deepashree Thakur1, Dr Ajay Kumar Sinha2, Dr Pramod Kumar3, Dr Vivek Ranjan4*, Dr Amit Munjal5

 

1,2,3,4 Jai prabha medanta superspeciality hospital, Patna, Bihar, India.

5 Dr Asha memorial Munjal Multispeciality Hospital, Fatehabad, Haryana, India.

*Correspondence to: Dr Vivek Ranjan, Jai prabha medanta superspeciality hospital, Patna, Bihar, India.

 

Copyright.

© 2025 Dr Vivek Ranjan This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Received: 30 Sep 2025

Published: 01 Dec 2025


Case Report Mucopolysaccroidosis

Introduction

A 14 year old young female presented in emergency department with history of shortness of breath ,Fever and cough .Initial evaluation and diagnostic testing led to a diagnosis of MUCOPOLYSACCHARADOSIS TYPE 1,a rare but clinically significant inherited lysosomal storage disorder.

Mucopolysaccharidoses Type 1 is caused by lack, or relative deficiency of the enzyme alfa –L- iduronidase (lysosomal enzyme involved in stepwise degradation of Glycosaminoglycans (GAGs) leading to accumulation of partially degraded GAGs ( dermatan and heparan sulphate ) in lysosomes and extracellular matrix.

Inheritance: It is an autosomal recessive disorder ,means both parents must carry the gene for their child to be affected.

Symptoms:

MPS 1 exists as a spectrum of subtypes :

  1. Severe MPS1 (HURLER’’S SYNDROME) causing early and severe symptoms.Symptoms usually appears within the first year of life,including coarsened facial features,hernias,skeletal deformities,developmental delays and potential intellectual disability.
  2. Attenuated MPS1 (HURLER-SCHEIE AND SCHEIE SYNDROME) which has milder and late onset of symptoms.Symptoms may appear later in childhood or even adolescence and can vary in severity with some individuals have no intellectual impairement.

Clinical Presentation:

The patient presented with shortness of breath, fever and cough. Initially She was managed conservatively with IV antibiotics and nebulization.

Physical Examination:

  1. FACIAL FEATURES:
    1. Coarse facies
    2. Large head and tongue
    3. Low nasal bridge
    4. Full cheeks and lips
    5. Widely spaced eyes
    6. Large forehead
  1. EYES: Corneal claudication(cloudy eyes)
  2. BONES: Dystosis multiplex
  3. ABDOMEN: Hepatosplenomegaly, Umbilical hernia
  4. ENT: Hearing loss.

 

Diagnosis:

Electrocardiogram-Normal sinus rhythm.

Echocardiography- a)Thickened mitral valve leaflets with severe mitral stenosis(Mitral valve orifice area- 1.7 cm2,Max/Mean gradient of 17/11 mmHg),Mild MR ,increased echogenicity of myocardium and Subvalvular apparatus (due to infiltration of GAGs)

  1. Thickened aortic valve with Mild aortic regurgitation but no stenosis.
  2. Mild tricuspid regurgitation with moderate pulmonary hypertension.
  3. LV dilatation and Hypertrophy.
  4. Normal biventricular function.

X RAY:  a)Cardiomegaly

  1. Thick clavicles, paddle shaped ribs.
  2. Wedge shaped vertebral bodies ,wide disc spaces.
  3. Dorsal kyphosis.

HRCT CHEST :a)Large area of consolidation and sub segmental collapse in left upper and lower lobe with focal atelectasis in right lobe of lung.

b)Focal kyphotic defect at L1 vertebral level.

Blood Investigations:

  1. Complete blood count-Microcytic hypochromic anemia.
  2. MUCOPOLYSACCHARIDOSIS (MPS) Sreen in Urine Examination(Toluidine Blue Spot Test)—Positive.