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• Re: Question 2 -NeurofibromatosisType1
  Zuher E Lokhandwala
  Published on: 10 October 2013

• Published on: 10 October 2013

  Re: Question 2 -NeurofibromatosisType1

  • Zuher E Lokhandwala, ST8, Paediatrics
  • Other Contributors:
    • Manish Prasad,Consultant Paediatrician

  Dear Editor, We read with interest the article by Peter A Lio et. al. (1). With regards to question no.2, the authors have rightly pointed out that Neurofibromatosis Type 1 (NF1) is the most likely diagnosis.

  Once the diagnosis of NF1 is confirmed, an affected individual should have a thorough initial assessment with particular attention to features of NF1, a physical examination with particular attention to the s...

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  Dear Editor, We read with interest the article by Peter A Lio et. al. (1). With regards to question no.2, the authors have rightly pointed out that Neurofibromatosis Type 1 (NF1) is the most likely diagnosis.

  Once the diagnosis of NF1 is confirmed, an affected individual should have a thorough initial assessment with particular attention to features of NF1, a physical examination with particular attention to the skin, skeleton, cardiovascular system & neurological systems, ophthalmologic evaluation including slit lamp examination and developmental assessment in children.

  Ongoing surveillance should include annual physical examination comprising regular blood pressure monitoring, annual head circumference monitoring (rapid increase might indicate tumour or hydrocephalus, annual ophthalmologic examination (including fundoscopy and visual fields) until age 7, regular developmental and growth assessment.Further investigations as indicated.

  However, we are aware that presently in this child's case only one criteria for diagnosis is met. As the diagnosis of NF1 has major implications for the child and the family, we would be interested in finding out whether one should confirm the diagnosis at this stage with genetic test and start the surveillance process as per the guidelines (2) or should one wait for the second major criteria to appear?

  Reference: 1. Peter A Lio, Kachiu C Lee. Brown birthmarks. Arch Dis Child Educ Pract Ed 2013;98:171-172 2. Ferner RE, Huson SM, Thomas N, et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 2007;44:81 -88

  Conflict of Interest:

  None declared

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  Conflict of Interest:
  None declared.

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