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Related Experiment Video

Updated: May 28, 2026

Concurrent Collection of Fetal Murine Brain and Serum to Assess Effects of Maternal Diet on Nutrition and Neurodevelopment in Neurofibromatosis Type 1
05:44

Concurrent Collection of Fetal Murine Brain and Serum to Assess Effects of Maternal Diet on Nutrition and Neurodevelopment in Neurofibromatosis Type 1

Published on: May 17, 2024

Diffuse lung disease in neurofibromatosis.

Rocco Trisolini1, Vanina Livi, Luigi Lazzari Agli

  • 1Thoracic Endoscopy and Pulmonology Unit, Maggiore Hospital, Largo Nigrisoli 2, 40133 Bologna, Italy. rocco.trisolini@ausl.bologna.it

Lung
|November 1, 2011
PubMed
Summary

Neurofibromatosis-associated diffuse lung disease is poorly understood, with limited diagnostic methods. This case report highlights clinical, functional, and HRCT findings, improving understanding of this rare condition.

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Published on: July 28, 2013

Area of Science:

  • Pulmonology
  • Radiology
  • Genetics

Background:

  • Neurofibromatosis-associated diffuse lung disease (NF-ALD) prevalence and characteristics are poorly defined.
  • Previous studies on pulmonary involvement in neurofibromatosis (NF) patients relied on chest X-rays, limiting diagnostic accuracy.

Observation:

  • This report details a case of a patient with neurofibromatosis-associated diffuse lung disease.
  • Clinical presentation, pulmonary function tests, and high-resolution computed tomography (HRCT) findings were analyzed.

Findings:

  • HRCT is crucial for diagnosing subtle pulmonary changes in NF-ALD.
  • The study provides detailed clinical and functional data, contributing to the understanding of NF-ALD manifestations.

Implications:

  • Improved diagnostic criteria for NF-ALD are needed, incorporating advanced imaging like HRCT.
  • This case report aids clinicians in recognizing and managing this rare pulmonary complication of neurofibromatosis.