Krabbe s disease - case report

@article{Noronha2000KrabbeSD,
  title={Krabbe s disease - case report},
  author={Lucia de F{\'a}tima Moror{\'o} Noronha and Gilberto Antunes Sampaio and Isac Bruck and Jorge S Reis-Filho and M{\'a}rio R. Montem{\'o}r-Netto and Luiz Fernando Bleggi-Torres and Leonardo Nercolini Faoro and E. Gasparetto and S{\'e}rgio A. Antoniuk and Gerald B Kasting},
  journal={Jornal de pediatria},
  year={2000},
  volume={76 1},
  pages={
          79-82
        }
}
OBJECTIVE: Report a case of Krabbés disease with necropsy. METHODS: Review of medical and necropsy records. RESULTS: An 8 months-old male patient developed tremors, swallowing difficulty and excessive salivation for 4 months prior to admission, evolving with vomiting and fever. Physical examination showed microcephaly and diffuse pigmentation of the retinae. Neurological examination showed flexion of upper limbs with spastic hyperthony, symmetrical global hyperreflexia, nystagmus and… CONTINUE READING

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