Stuart Green's Vignettes
- A 14-year-old girl on holiday in the States with friends was not enjoying herself as much as her family would have expected. On September 11th 2001 (the day of the terrorist attack on the Twin Towers) she didn't seem “particularly concerned” but carried on her normal activities. The family wondered if she might be “down in the dumps” or depressed but didn't think to make any particular referral. However, when she came back to her parents in the U.K. a few weeks later they noticed a slight change in mood and a general lack of interest in things about her.
- A child with a complex developmental problem, cardiac and bowel disease was referred to me by the family's GP who wanted a further opinion. The parents were older. The couple was almost like the traditional seaside postcard couple with a very large matronly woman and diminutive husband. She did all the talking. When I examined the child I realised that most things that needed to be done had been done but I said to them that since cardiac surgery had come a long way in the last five years it might be worth reviewing the child's cardiac problems to see if any further surgery could he done.
- Training in Kentucky which I did in the late sixties and early seventies with Dr. David Clarke, was a wonderful experience which combined paediatric neurology and adult neurology. There was a good team of people with residents from all over the world and there was a wide variety of patients from well-to-do and well-heeled stud owners and horse trainers through farmhands to poor hillbillies.
- A highly articulate young couple came to me with a two-year-old daughter who had unfortunately slowed down in development. She had been really forward and bright until she was two years of age. She had started to become unsteady between the age of two and three, she had in-coordinated movements and had rather long, irregular eye movements. She appeared to have relatively well-preserved intellect and wasn't really unwell but had episodes of quite severe deterioration whenever she had intercurrent infection.
- A boy of 6 years was diagnosed upon an acute collapse as having insufficiency of the adrenal glands, which was subsequently diagnosed as part of a very serious degenerative disorder called adrenoleucodystrophy, in which the children (boys only) develop a combination of adrenal insufficiency (which can be corrected using hormonal treatment) and progressive loss of intellectual and physical skills which at the time of writing is still to difficult to treat. They very often, but not always, die early in life.
- There is a disease called Batten's disease—a slowly progressive neurodegenerative disease of children—which causes visual problems which are progressive. The children become blind between the age of 5 and 8 and then they lose cognitive skills and eventually plateau leaving them in a state where their intellect is dulled, their speech is affected and they walk and move in a Parkinsonian-like way. The speech is stuttering and repetitive and when one sees a patient with this disease it is fairly distinctive.
- A 12-year-old girl was diagnosed because of a progressive weakness with a condition known as Friedreich's ataxia, a progressive condition causing weakness, unsteadiness and inco-ordination with a chance of developing a cardiomyopathy (a weakness of the heart muscle). When discussing the diagnosis with the parents, I asked what they had told the young girl, who was a bright kid at a Grammar School. They said they had told her nothing at all-after all it would be totally inappropriate to tell a 12-year old she had “a terrible condition which was going to shorten her life”, I explained to them that the 12 year old was already having physiotherapy, she knew she had a problem; she was having blood tests and imaging and what was it they thought she thought she had? They told us she thought she just had some form of un-coordination and that was all they wanted her to know.
- A young boy of 9 or 10 presented with a history of muscle weakness. He had been getting worse over a number of years. From the history it sounded as if it might be some form of hereditary muscle disease or peripheral neuropathy. I asked his father—a most articulate and rather Bohemian character—whether there was any family history and he said “No, not at all”. When I examined the child he clearly had weak legs; they were thin with depressed reflexes, which suggested either some form of muscular dystrophy or disease of the anterior horn cells or peripheral neuropathy.
- One of the problems of paediatric neurologists dealing with epilepsy and other paroxysmal (occasional) events is that one is entirely dependent on the observations of the parents or the child themselves about exactly what has happened. After all a surgeon dealing with breast lumps or hernias examines people and “sees” what is there but many children we see in paediatric neurology are on examination entirely normal and it is only the character of the event that gives the diagnosis. This was the position until recently when people started to video events, and this has made an enormous difference to this area of paediatric neurology (see later).