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Lethal Alleles02:41

Lethal Alleles

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Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
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Tumefactive Multiple Sclerosis: The Lethal Chameleon.

Ana Carolina Monteiro1, Tomás França de Santana2, Carolina Chumbo1

  • 1Internal Medicine Department, Hospital Professor Doutor Fernando Fonseca, Lisbon, Portugal.

European Journal of Case Reports in Internal Medicine
|September 16, 2024
PubMed
Summary

Tumefactive multiple sclerosis (TMS) is a rare demyelinating disease often misdiagnosed as stroke or toxoplasmosis. Prompt diagnosis and aggressive treatment are crucial for a better prognosis in this challenging condition.

Keywords:
Tumefactive demyelinating lesionspseudotumoral demyelinating lesionstumefactive demyelination

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Area of Science:

  • Neurology
  • Neuroimmunology
  • Radiology

Background:

  • Tumefactive multiple sclerosis (TMS) is a rare demyelinating condition.
  • It presents as large CNS lesions with mass effect, mimicking other pathologies.
  • Clinical and radiological features can be mistaken for stroke or toxoplasmosis.

Purpose of the Study:

  • To report a case of tumefactive multiple sclerosis.
  • To highlight diagnostic challenges and the importance of accurate differential diagnosis.
  • To emphasize the need for timely immunosuppressive treatment.

Main Methods:

  • Case report of a 59-year-old woman with neurological decline.
  • Initial diagnosis considered stroke (CT) and toxoplasmosis (MRI).
  • Brain biopsy confirmed active tumefactive multiple sclerosis.

Main Results:

  • The patient presented with somnolence, weakness, and loss of consciousness.
  • Imaging studies were inconclusive, leading to a brain biopsy.
  • Biopsy revealed tumefactive multiple sclerosis in the subacute phase.
  • Treatment with plasmapheresis, natalizumab, and corticosteroids led to significant improvement.

Conclusions:

  • Tumefactive multiple sclerosis poses a significant diagnostic challenge.
  • It can mimic neoplasms, infections, and vascular events.
  • Brain biopsy is often essential for definitive diagnosis.
  • Early and aggressive immunomodulatory treatment improves outcomes and may prevent disease progression.