Document Detail

Relationship between café-au-lait spots as the only symptom and peripheral neurofibromatosis (NF1): a follow-up study.
MedLine Citation:
PMID:  8335018     Owner:  NLM     Status:  MEDLINE    
We re-examined 21 children with the possible diagnosis of peripheral neurofibromatosis (NF1) based on the presence of café-au-lait (CAL) spots as the single clinical finding. We evaluated whether "typical" or "atypical" appearance of the spots was important for the final diagnosis and whether the co-existence of other non-specific signs (e.g. pectus excavatum) were of any significance for the final diagnosis. In 8/14 (57.1%) cases with "typical" CAL spots, the diagnosis of NF1 was finally established on the basis of other criteria. For the other 6 patients the diagnosis is not yet definitive but highly probable on the basis of the presence of macrocephaly, pectus excavatum and/or MRI findings. Only one patient among five with "atypical" CAL spots possibly has NF1.
A Fois; L Calistri; P Balestri; R Vivarelli; G Bartalini; L Mancini; A Berardi; M Vanni
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  European journal of pediatrics     Volume:  152     ISSN:  0340-6199     ISO Abbreviation:  Eur. J. Pediatr.     Publication Date:  1993 Jun 
Date Detail:
Created Date:  1993-08-25     Completed Date:  1993-08-25     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7603873     Medline TA:  Eur J Pediatr     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  500-4     Citation Subset:  IM    
Clinica Pediatrica, Università degli Studi, Siena, Italy.
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MeSH Terms
Brain Neoplasms / complications,  diagnosis*
Child, Preschool
Follow-Up Studies
Magnetic Resonance Imaging
Neurofibromatosis 1 / complications,  diagnosis*
Pigmentation Disorders / etiology*

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