Niemann-Pick disease type C2 presenting as fatal pulmonary alveolar lipoproteinosis: morphological findings in lung and nervous tissue.

@article{Bjurulf2008NiemannPickDT,
  title={Niemann-Pick disease type C2 presenting as fatal pulmonary alveolar lipoproteinosis: morphological findings in lung and nervous tissue.},
  author={Bj{\"o}rn Bjurulf and Signe Spetalen and A. W. Erichsen and Marie Th{\'e}r{\`e}se Vanier and Erik Heyerdahl Str\om and Petter Str\omme},
  journal={Medical science monitor : international medical journal of experimental and clinical research},
  year={2008},
  volume={14 8},
  pages={CS71-5}
}
BACKGROUND Niemann-Pick disease type C1 (NPC1) and type C2 (NPC2) display the same pattern of neurovisceral storage due to deficiencies within lysosomes. NPC2 is a much rarer condition, and as reports on the pathological changes are scarce, the morphological findings in the lungs and brain in two siblings who died at an early age from pulmonary involvement are described. The diagnosis of NPC2 was confirmed at postmortem mutational analysis. CASE REPORTS Both siblings presented with postnatal… CONTINUE READING
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