NUMERO: #20260611

Título: Macroglossia Associated with a KY Gene Mutation: why how and what

Nome do Apresentador: Irit ALLON

Categoria do Trabalho: Apresentação Oral - Relato de Caso ou Série de Casos

Área Temática: Áreas afins no caráter multidisciplinar

Resumo: A 15-year-old female with hereditary spastic paraplegia was referred for evaluation of tongue enlargement and impaired oral function. The patient exhibited macroglossia associated with dysarthria, feeding difficulty, and nocturnal breathing disturbances. A midline keyhole glossectomy was performed to reduce tongue volume. Following recovery, tongue size normalized relative to oral cavity dimensions, speech clarity improved, and respiratory symptoms resolved. Sensory and motor functions of the tongue were preserved. Histopathology demonstrated muscle-fiber hypertrophy and atrophy with fibro-adipose replacement and intramuscular autophagic granules. The final diagnosis was of: Macroglossia Associated with KY Gene Mutation, causeing Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome. The condition is characterized by progressive spasticity, kyphoscoliosis, motor delays, and distinctive lateral tongue atrophy. While tongue atrophy is a recognized feature, symptomatic macroglossia has not been well documented in this genetic context. We describe a patient with KY-associated hereditary spastic paraplegia presenting with functionally significant macroglossia requiring surgical intervention.

Autor 1:  Irit ALLON

E-mail 1:  [email protected]

Autor 2:   Yehuda Peknaev

E-mail 2: 

Autor 3 :  Alex Abramson

E-mail 3: