New Delhi: Hunter syndrome (mucopolysaccharidosis type II) is an inherited metabolic disorder that primarily affects males. It happens because of a gene mutation that leads to the buildup of a sugar molecule in the tissues called glycosaminoglycans (GAGs). There is a lack of awareness regarding this syndrome, and the symptoms may go unnoticed. Hunter syndrome is divided into neuronopathic and non-neuronopathic. Hunter syndrome can affect children in different ways; behavioural changes and attention issues often appear in the neuronopathic form. As the condition progresses, it can lead to seizures, cognitive decline, language delays, and oral, respiratory, heart, and digestive problems.
Dr. Anish Pillai, Lead Consultant- Neonatology and Paediatrics, Motherhood Hospitals, Kharghar, Navi Mumbai, while talking about the symptoms, said that children may also have joint stiffness, short stature, and muscle issues. In the non-neuronopathic form, most children maintain normal cognitive development. Other features include coarse facial features, enlarged head, recurrent ear/throat infections, hernia, and short stature. Recognising these symptoms early helps in timely care and a better quality of life. It is essential for parents to watch out for these symptoms and seek timely attention. The expert went on to talk about the timely diagnosis of the disorder.
How easy is it to get a proper diagnosis in India?
Getting a proper diagnosis in India can be challenging due to limited awareness, access to specialists, and delayed referrals. However, the growing healthcare infrastructure is slowly improving early detection. Hence, parents should consult a doctor without any delay if they notice any developmental delay or unusual signs.
What are the first steps after a child is diagnosed with Hunter syndrome?
After confirming the diagnosis, blood tests, urine tests, and X-rays may be performed. The treatment options include enzyme replacement therapy, hematopoietic stem cell transplantation, and supportive measures such as nonsteroidal anti-inflammatory drugs and physiotherapy. The child will be under the care of a multi-disciplinary medical team involving paediatrician, paediatric neurologist, geneticist, physiotherapist, occupational therapist, and speech therapist.
How do you explain this condition to worried parents?
Hunter syndrome is a rare genetic condition where certain substances build up in the body due to a deficiency of a crucial enzyme. This affects the growth and development of the child. With the right care and support, many symptoms can be managed.
Do you recommend genetic testing for the family?
Genetic testing is recommended for the family to know the risk for future children. Hunter syndrome is an X-linked recessive disorder, and females can be carriers of the genetic mutation. Genetic testing will help with early diagnosis and timely intervention. With current advances, even antenatal (in-utero) diagnosis of the fetus is possible.
Conclusion
Awareness and early detection are key to managing Hunter syndrome effectively. If parents notice any concerning signs in their child, they should seek medical advice promptly. With proper care and support, children with Hunter syndrome can lead better lives