Early Ataxic gait with ? marfanoid features

[Nareshankush]

Dear Sir

My son, 17 yrs of age, has finished high school with excellent grades, and has joined Junior College in Jan this year. He also plays lawn tennis and cricket. Last week he was home during his vacations. During an evening walk with him, I noticed that he would sometimes tend to go off balance. Though he never fell, but as he was walking by my side, I felt that he was dragging his feet occasionally during the walk. He said this happens to him sometimes and when he is walking with a group of friends he sometimes hits fellow students walking by his side.

I showed him to a local neurologist, who felt he had marfanoid features like slightly long neck, slightly high arched palate, possibly longish fingers with some hyperlaxity and bluish sclera. He also felt that my son possibly could have something like ataxic gait. The MRI of brain including cerebellum and whole spine was reported normal.

There is no family history of similar disease. Can you please advise what further investigations should be done to make a definitive diagnosis and what treatment should we start for him.

Thanks

Naresh

[Nareshankush]

Dear Dr. Chahine

Thank you very much for your answer. You have provided extremely useful information, which is of great help. We (me and my wife) live in India and our son (Ankush) shifted to Singapore six months back for his 'A' levels. He'll now be home in Nov./Dec. We intend to do a cardiac echo +/- CT at that time. Till that time we'll try to keep him under observation. To avoid a therapeutic vacuum, he has been put on Co Q10 (Ubidecarnone) - 300 mg daily, Vit E with antoxidants - 300 mg alertnate day, and Methycobalmine 1000 mg alertnate day; with ceratin group of exercises. Visit to a Paediatric Neurologist and Geneticist, we feel we could do as and when required.

I shall be visiting him in Singapore next week and try to assess how he is doing. I shall keep you updated about the progress/any change in his condition.

Do you think there should be any change in the above plan or it should be OK?

We are extremely grateful for your help. It was quite reassuring, going thro' your reply.

Best regards

Naresh

PS:  I forgot to mention in my last message that he has a history of Chronic and recurrent sinusitis (daignosed as allergic), which actually improved significantly after he moved to Singapore. His MRI done last month for ataxia, also revealed a polyp in his maxillary antrum. This also we intend to get removed in Nov./Dec.

Naresh

[Neuro Forum]

Thanks for using the forum. I am happy to address your questions, and my answer will be based on the information you provided here. Please make sure you recognize that this forum is for educational purposes only, and it does not substitute for a formal office visit with your doctor.

Without the ability to examine your son and obtain a history, I can not tell you what the exact cause of his symptoms is. However I will try to provide you with some useful information.

Marfanoid features may be indicative of a syndrome, but some people have marfanoid features without further clinical implications. In general though in that setting, an echocardiogram of the heart should be done to exclude valvular or aortic problems that accompany Marfan's disease.

There are hundreds of causes of ataxia. In children, post-infectious cerebellitis (transient inflammation of the part of the brain called the cerebellum, which is involved in coordination and other functions) following most often viral infection is common and self-limited and improves with time. If his MRI of the brain, some causes such as cerebellar tumors, demyelinating diseases like multiple sclerosis, and other structural problems are excluded. Metabolic disorders, such as deficiencies in certain enzymes or other proteins, celiac disease, or disorders of amino acid or organic acid metabolism, can also cause ataxia. There is a very large group of genetic/hereditary disorders that can lead to ataxia, with spinocerebellar ataxia being one of the more common ones. Paraneoplastic processes (autoimmune problems associated with the presence of cancer in the body) leads to a relatively rapid progression of ataxia over weeks or months. In addition, certain deficiencies such as vitamin E deficiency can lead to ataxia as well.

It sounds like he is doing very well cognitively, which makes a childhood neurodegenerative disorder much less likely. Evaluation of your son by a pediatric neurologist or a neurologist at a tertiary care center in your area (a hospital associated with an academic  medical center such as a medical school hospital) would be beneficial. Before pursuing an extensive and possibly expensive evaluation, confirmation that there is in fact ataxia and marfanoid features is important, rather than his walking troubles just being some mild clumsiness. If these are confirmed, it may be of benefit to have him seen by a geneticist too, to see if his syndromic features help make a diagnosis.

Thank you for this opportunity to answer your questions, I hope you find the information I have provided useful, good luck.