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Neurofibromatosis Type 1 in Childhood.
  1. SUSAN HUSON, Consultant Clinical Geneticist

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    Neurofibromatosis Type 1 in Childhood. By Kathryn North. (Pp 132; £27.95 (US$47.95) hardback.) Mackeith Press, 1997. ISBN 1-898-68313-1.

    This review must begin with a declaration of conflict of interest! There are only three other currently published texts purely on neurofibromatosis and I am a coeditor of one of them. However, as I was initially trained as an adult physician before going into clinical genetics, I have to start by saying that Kathryn North, as a paediatric neurologist, provides a different and important perspective to clinical studies of neurofibromatosis type 1 (NF1).

    The book is a volume in the International Review of Child Neurology series. It is based on the experience gained in establishing a neurofibromatosis clinic at the Royal Alexandra Hospital for Children in Sydney, Australia. Dr North wrote the entire text apart from the chapter on molecular biology of NF1, which is a well written summary of the state of the art in this field by David Gutmann.

    The other six chapters and appendices are all about clinical aspects of NF1 with an emphasis on the neurological aspects, particularly optic gliomas and the developmental and learning problems seen in children with this condition. The highlight of the book for me was an extremely practical description of how to go about setting up a children’s clinic: the appendices contain all the clinic proformas that would be extremely useful in this respect.

    The sections on cognitive function and optic gliomas in NF1 are excellent. They contain a detailed literature review and then Dr North’s own studies, which have been an important contribution to the field. The book ends with a helpful discussion about the role of cranial magnetic resonance imaging (MRI) in management. The subject of whether patients should have a routine cranial MRI at the time of diagnosis has long been disputed. Dr North concludes that currently there is no place for screening MRIs in the routine clinic and only recommends scans when there are particular clinical indications. She makes the point however, and I quite agree, that there is still a place for continuing evaluation of the routine use of this technique in the research setting. For example, if a marker could be found as to exactly which children with optic nerve changes on MRI were going to progress to some level of visual problem it would be extremely important, and perhaps newer techniques such as PET scanning will give us the answer.

    This book is clearly an essential addition to the shelves of all those of us that regard ourselves as neurofibromatologists. Perhaps in my own early work I underplayed the value of specialist clinics as I felt that the American model of running such clinics was overplaying the severity of the condition for families. However, now I have run a fairly low key specialist clinic for nearly a decade, I feel that there is a role for regional neurofibromatosis clinics. I suspect that also there are sufficient cases such that if each district or community paediatric service designated one paediatrician to look after all of them, the general burden of the cognitive problems (occurring in between 30% and 50% of children) so elegantly described by Dr North would become more apparent and the children given better support. This book is a must for anybody wanting to undertake this challenge and for paediatric neurologists, on whom the burden of assessing children with the more severe cognitive problems and neurological complications falls.