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Chronic Kidney Disease II: Clinical Manifestations01:24

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Chronic Kidney Disease (CKD) progressively impairs multiple body systems due to the accumulation of uremic toxins, which disrupt cellular functions across various organs.Neurologic symptomsNeurologic symptoms often arise early in CKD, as uremic toxin buildup drives changes in cognitive and motor functions. Patients frequently experience fatigue, headache, confusion, difficulty concentrating, and, in severe cases, seizures. Peripheral neuropathy commonly manifests as burning sensations in the...
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Coronary Artery Disease III: Clinical Manifestations01:30

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Coronary Artery Disease (CAD) is a primary health risk worldwide, leading to significant morbidity and mortality. The condition arises from the buildup of atherosclerotic plaques within the coronary arteries, resulting in diminished blood supply to the heart muscle.The clinical manifestations of CAD vary widely, from asymptomatic stages to severe, life-threatening conditions. Understanding these manifestations is crucial for early diagnosis and effective management.Angina Pectoris: The Warning...
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Endocarditis II: Clinical Features of Infective Endocarditis01:25

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Heart Failure III: Clinical Manifestations01:26

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Gastroesophageal reflux disease, or GERD, is a persistent medical condition that affects many individuals worldwide. Its clinical manifestations can vary greatly, making diagnosis and management challenging for healthcare professionals. The following is a comprehensive overview of the clinical manifestations, assessment, and management strategies for GERD.
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Video Experimental Relacionado

Updated: Jan 7, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

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Manifestaciones Clínicas

Mauricio Silva Teixeira1,2, Anna Maria Gomes2, Hindalis Ballesteros Epifanio2

  • 1Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Sao Paulo, Brazil.

Alzheimer's & dementia : the journal of the Alzheimer's Association
|December 25, 2025
PubMed
Resumen
Este resumen es generado por máquina.

El Insomnio Familiar Fatal (IFF), una rara enfermedad priónica, puede imitar la demencia con cuerpos de Lewy (DCL). Las pruebas genéticas revelaron la mutación D178N en el gen PRNP, confirmando el IFF en un paciente con demencia progresiva y anomalías del sueño.

Palabras clave:
Insomnio Familiar FatalEnfermedad priónicaDemencia con cuerpos de LewyMutación D178NGen PRNPDiagnóstico diferencialNeurodegeneraciónTrastornos del sueño

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Área de la Ciencia:

  • Neurología
  • Genética
  • Enfermedades priónicas

Sus antecedentes:

  • El Insomnio Familiar Fatal (IFF) es una enfermedad priónica rara, autosómica dominante.
  • Este caso presenta IFF imitando inicialmente la demencia con cuerpos de Lewy (DCL).

Objetivo del estudio:

  • Informar un caso de IFF con presentación atípica.
  • Destacar la importancia de una investigación exhaustiva en casos sospechosos de DCL con signos de alarma.

Principales métodos:

  • Estudio de caso de un varón de 48 años con demencia progresiva e insomnio.
  • Se utilizó RMN cerebral, PET FDG, SPECT TRODAT, polisomnografía y secuenciación del gen PRNP.
  • Se identificó la variante patogénica c.532G>A:p (Asp178Asn) en el gen PRNP.

Principales resultados:

  • El paciente presentó demencia rápidamente progresiva, fluctuaciones cognitivas, alucinaciones, parkinsonismo y disautonomía severa.
  • El análisis genético confirmó la mutación D178N en el gen PRNP, vinculada al IFF.
  • Aunque la hipometabolismo talámico estuvo ausente, se observó afectación estriatal en el SPECT TRODAT, correlacionada con el parkinsonismo.

Conclusiones:

  • El IFF puede manifestarse con diversos fenotipos clínicos, incluidas presentaciones que se asemejan a la DCL.
  • La demencia rápidamente progresiva, los trastornos del sueño y los antecedentes familiares justifican una investigación más allá de la sospecha inicial de DCL.