Paediatrician appointment

We're back at the paediatrician's today regarding delayed walking and abnormal brain MRI scan.

B is still not walking independently although recently he has started to take about 2 to 3 quick steps which are poorly co-ordinated. He is also delayed in other aspects of his development including his speech and language. He has made some progress in his play however it can be repetitive and he needs help to move on to a different activity. He has started using motoric type of communication such as using our hands to indicated what he wants. His eye contact is fair and he responds to his name but inconsistently.

Neurological examination is the same as before with asymmetrical brisk deep tendon reflexes and globally reduced muscle tone especially in his lower limbs. He is now beginning to stand, knee walking very well and when led by both hands he walks with a wide base gait and tends to drag his left leg.

B's MRI has shown some generalised non-specific abnormalities (gee that's helpful) with slight prominence of his ventricles and thin, featureless corpus callosum. There was also limited preriventricular signal change around the trigones of both lateral ventricles.

He has had some plasma amino acids and organic acids done. Initial blood tests showed a generalised raised amino acid pattern and therefore this was repeated. His repeats have shown slightly raised alanine and proline. She is unsure what the significance of this is.

In view of all of the above symptoms, and his abnormal investigations, b will be referred to the Neurologist for a second opinion to enable us to reach a more conclusive diagnosis.