Mucopolysaccharidoses

Question

Home | All Discussions | Submit Dilemma

Mucopolysaccharidoses

Author: Pediatric Oncall

Question
A 4-year-old boy 2nd born of third-degree consanguineous marriage presented with cough and breathlessness for 10 days. He was operated on for an inguinal hernia at 4 months of age and was treated for rickets in view of skeletal deformities. Milestones are normal. On examination, he had bronchospasm, a large head, short stature, dysostosis multiplex, umbilical hernia, corneal clouding, and hepatosplenomegaly. Other systems were normal. Chest X-Ray showed oar-shaped ribs and he had bullet-shaped phalanges. He was suspected of a case of Mucopolysaccharidoses (MPS). Echocardiography showed infiltrative cardiomyopathy with mild mitral valve and aortic valve prolapse with mitral regurgitation.

What additional complications should one screen for?

Answer Discussion :

?

????? ??????????

0

Genetic tests for MPS

12 Days ago

D

Dfsa Ata

0

Hearing
fundus examination
atlanto-axial instabilty
sensory neuron

12 Days ago

View More Comments

Answer 1

Complications commonly seen in MPS are

• Heart disease in form of cardiomyopathy, aortic and mitral valve prolapse
• Scoliosis/Kyphosis
• Altanto axial dislocations
• Respiratory infections due to bony cage abnormalities
• Glaucoma
• Hydrocephalus

Thus, in this child apart from echocardiography, one should do X-Ray spine and look for altanto axial dislocation and spine deformities. Also if there is lower limb spasticity with brisk reflexes, one must also rule out hydrocephalus. Regular annual tonometric measurement of intraocular pressure would be advisable to rule out glaucoma.

Mucopolysaccharidoses

Home

Partner Sites