|Home » Patients » Patients Stories »|
Pravin Raj Prabagaran27 February 2016
About Pravin Raj
Pravin is 25 and the only child in the family and has diagnosed with MPS IV A or Morquio Syndrome.Nevertheless,he feels blessed to be able to pursue his education in school until he completed his SPM and also able to use information technology through personal computer, laptop and other devices.
Symptoms / Physical
MPS Type IV A is triggered when there is an absence of the Galactosa 6 – Sulphate enzyme. This enzyme is essential in breaking down of Key Sulphate.
Patients with Morquio’ s syndrome appear healthy at birth but are present with spinal deformity, hyper mobility of the intervertebral joints in the neck poses a major treat with the increase risk and manipulation of the neck under anesthesia. It requires cervical fusion at an early age. Other symptoms that he faces is cause of facial features, clouding of the cornea, enlarged head, chest and back deformation, short and broad hands, access hair growth, restricted limb movements, short stature, commonly associated was the narrowing of treachea and bronchi, enlargement of tongue. The growth retardation and possibly valgum ( knock – knee).
Diagnosis / Treatments
Pravin was diagnosed at age of 2, By Prof Sen to have Morquio Syndrome. Pravin presented with C1 -C2 dislocation with respiratory failure where He had a prolonged admission requiring spinal fusion and long term ventilation with tracheostomy for life ( happened in Penang GH). Recurrent pneumonia maybe increase volume and poor clearance of airways secretions. He is ventilator depends due to cervical spinal injury and resultant alveolar hypo ventilation during sleep. He is also quadriplegic and wheel chair bound with normal mental development. Genetic counseling and counsellors assist with referral to diagnostic facilities with experience sub-specialities physician. Introduce us to community and stayed support service.
|© Copyright Malaysia Lysosomal Diseases Association (Pertubuhan Penyakit Lisosomal Malaysia) 2011 All rights reserved.|
|Registration No: 2621-NSE
1520, TAMAN BUKIT KAYA, 70200 SEREMBAN, NEGERI SEMBILAN, MALAYSIA.
Email: email@example.com Telephone: 019-6899620