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Oculomasticatory rhythmic movements, insomnia and stroke-like episodes in a patient with POLG mutation.
Ramesh, Rithvik; Amanmahanya, Chitneni; Krishnamoorthy, Vengadakrishnan; Krishnan, Vasanthan; Palani, Sathyamoorthy; Narasimhan Ranganathan, Lakshmi.
Afiliación
  • Ramesh R; Neurology, Sri Ramachandra Institute of Higher Education and Research (Deemed to be University), Chennai, Tamil Nadu, India rithvy@gmail.com.
  • Amanmahanya C; Neurology, Sri Ramachandra Institute of Higher Education and Research (Deemed to be University), Chennai, Tamil Nadu, India.
  • Krishnamoorthy V; Internal Medicine, Sri Ramachandra Institute of Higher Education and Research (Deemed to be University), Chennai, Tamil Nadu, India.
  • Krishnan V; Internal Medicine, Sri Ramachandra Institute of Higher Education and Research (Deemed to be University), Chennai, Tamil Nadu, India.
  • Palani S; Internal Medicine, Sri Ramachandra Institute of Higher Education and Research (Deemed to be University), Chennai, Tamil Nadu, India.
  • Narasimhan Ranganathan L; Neurology, Sri Ramachandra Institute of Higher Education and Research (Deemed to be University), Chennai, Tamil Nadu, India.
BMJ Case Rep ; 17(4)2024 Apr 29.
Article en En | MEDLINE | ID: mdl-38684350
ABSTRACT
The POLG mutation, a leading cause of mitochondrial diseases, exhibits a wide-ranging age of onset and a complex clinical presentation. We encountered an atypical clinical profile in an elderly man with a POLG mutation, characterised by a stroke-like episode, chronic insomnia and transient oculomasticatory rhythmic movement. History revealed chronic constipation since his 50s and progressive bilateral ophthalmoplegia since his early 60s. Subsequently, he had experienced acute encephalopathy and later developed chronic insomnia. The present neurological examination showed bilateral complete ophthalmoplegia, ptosis, and rhythmic ocular and jaw movements. Imaging indicated findings suggestive of a stroke-like episode and eventual genetic analysis revealed a homozygous missense mutation in the POLG gene. This case expands the clinical spectrum of POLG mutations in individuals over 60 years, showcasing the rare combination of a stroke-like episode, chronic insomnia and oculomasticatory rhythmic movement.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: ADN Polimerasa gamma / Trastornos del Inicio y del Mantenimiento del Sueño Límite: Aged / Humans / Male / Middle aged Idioma: En Revista: BMJ Case Rep Año: 2024 Tipo del documento: Article País de afiliación: India Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: ADN Polimerasa gamma / Trastornos del Inicio y del Mantenimiento del Sueño Límite: Aged / Humans / Male / Middle aged Idioma: En Revista: BMJ Case Rep Año: 2024 Tipo del documento: Article País de afiliación: India Pais de publicación: Reino Unido