A while ago, the radiologists at Star Imaging were approached by the parents of a toddler, who was demonstrating developmental issues like expressive language delay. The little boy was not meeting the normal milestones expected for his age, and the parents were worried. More so, because they had already done a 3T MRI scan and everything was showing up normal. The parents were puzzled, but a wise doctor advised them to get a second opinion on their scan, which led them to our centre.

When our radiologists heard the case out, they had an inkling of what the problem could be – and in order to confirm it, and MR Spectroscopy was carried out, along with a routine 3T MRI scan.

Diagnosing the problem

In our experience, developmental retardation and the other symptoms that were being manifested by the child were strong indicators of either perinatal insults or an inherited (congenital) metabolic disorder. Metabolism refers to the chemical reactions taking place in our body to convert or use energy. This process helps us grow and function as normal human beings. To carry out the metabolic process, the body requires certain enzymes. However, sometimes, a particular enzyme may not be produced by a baby’s body at all or it may be produced in a form that is not accepted; due to a genetic mutation. In this case, the baby grows up with a metabolic disorder, which can become apparent only through routine screening tests, or through other symptoms such as delayed growth, intellectual disabilities, seizures, lethargy, loss of appetite, vomiting, etc.

In the case of the toddler, an MR spectroscopy revealed Cerebral Creatinine Deficiency Disorder (CCDC), a type of congenital metabolic disorder.  Creatinine is an essential component of the energy generating mechanism of our body, including ATP production. In CCDC, enzymes like AGAT and GAMT are deficient.  And the effect of this deficiency is most apparent in large organs with high energy demands like the brain, which is why the brain is scanned when CCDC is suspected.

Treatment and prognosis

Once we carried out the 3T MRI along with MR spectroscopy, the diagnosis of this potentially treatable disorder was confirmed.

The young boy was then immediately started on the required line of treatment, which included creatine supplements. In CCDS, early detection is key to ensure improved quality of life and longevity of the patient. That’s why it’s crucial to get the right screening test at the right time.

Why MR spectroscopy made wonders along with routing MRI?

The procedure for a (3T) MR spectroscopy is the same as a normal (3T) MRI scan – the difference lies in the image produced. An MR Spectroscopy (MRS) gives great information on tissue chemical composition, rather than anatomic details produced by a conventional 3T MRI scan.

However, remember that just getting an MR Spectroscopy is not enough, it is essential that the scans are interpreted by a qualified super-specialised radiologist who knows what to look for. Similarly, experienced radiologists will even be able to advise you on the right tests needed, even if the doctor hasn’t recommended it.

In the case of the little boy, this is exactly what happened – the doctor had asked for a 3T MRI, but since our neuroradiology experts suspected a metabolic disorder, we decided to do an MR Spectroscopy test too, along with the 3T MRI, at no extra cost to the patient. This call made all the difference and changed the course of the little boy’s future!

Bottom line?

If you are in doubt of your diagnosis, never hesitate to ask for a second opinion; and always choose expert radiologists – they are more important than you realize!

Star Imaging offers the world’s most advanced technology, including 3T MRI scanners with ambient experience (with MR Spectroscopy capabilities), 128 slice CT scanners, a 3D digital mammography machine and more; and is Pune’s leading Second Opinion clinic. For more information, feel free to reach out to us on 020 4132 2222 / 4122 2222.