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A 2 year old with coarse features and cataracts
A 2 year old with coarse features and cataracts 02/05/2009 https://www.pediatriconcall.com/Journal/images/journal_cover.jpg
Dr Ira Shah.
Medical Services Department, Pediatric Oncall, Mumbai.

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Shah I. A 2 years old with coarse features and Cataracts. Pediatr Oncall J. 2008;5: 83.

Address for Correspondence
Medical Sciences Department, Pediatric Oncall, Mumbai

Clinical Problem :
Case Report:- A 2 years old boy born of non-consanguineous marriage presented with delayed development, increased head size since birth. The child has only been able to sit with support, has crude grasp and monosyllable speech. He was operated for inguinal hernia at 6 months of age and also noticed to have umbilical hernia since 3 months of age. There was no problems at time of birth and no similar complaints in the extended family. On examination, he was short (Weight = 8 kg, Height = 75 cm) with upper segment: lower segment being 1.3:1. He had open anterior fontanelle with head circumference of 48 cm with parietal prominence. He had coarse facies, hypertelorism, depressed nasal bridge, macroglossia with short stubby fingers. On systemic examination, he had hepatomegaly with spasticity and brisk reflexes in the lower limbs. Ophthalmic examination showed corneal clouding and hearing evaluation was normal.
 
Question :
What is the diagnosis? How to investigate further?
 
Expert Opinion :
Expert’s opinion:- Dr Ira Shah

This child has developmental delay with organomegaly with coarse features, corneal clouding and open anterior fontanelle with an apparently large head. Hence, one would consider a diagnosis of mucopolysaccharidosis (MPS). This child needs to investigated further in the form of
- Urine for MPS
- X-Ray spine/ribs/hands to look for kyphoscoliosis, oar shaped ribs and bullet shaped metatarsals respectively.
- Ultrasound of the skull to check for hydrocephalus especially since the child has spasticity with brisk reflexes in the lower limbs.
- Hemogram to look for pancytopenia which may suggest bone marrow involvement.
- Echocardiography to look for cardiomyopathy.

Once the diagnosis of MPS is confirmed, the child should be tested for specific enzyme deficiency that will aid in prenatal counseling.

In this child, urine for MPS was positive and he did have kyphoscoliosis with oar shaped ribs and bullet shaped metatarsals. His ultrasound of skull did show non-communicating hydrocephalus. His hemogram was normal and echocardiography showed left ventricular dysfunction.
 
Funding:  None  
 
Conflict of Interest: None
 
DOI No. : 
 
Cite this article as :
Shah I. A 2 years old with coarse features and Cataracts. Pediatr Oncall J. 2008;5: 83.
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