Gastroenterologie
a hepatologie

Swallowing disorder as the first symptom of desminopathy

Tereza Málková¹, Miroslava Balaščaková², Jana Zídková³, Jana Haberlová⁴, Hana Nestávalová⁵, Barbora Jírová¹, Kristýna Zárubová¹, Barbora Obermannová¹

+ Affiliation
¹ Pediatrická klinika 2. LF UK a FN Motol, Praha
² Ústav biologie a lékařské genetiky 2. LF UK a FN v Motole, Praha
³ Centrum molekulární biologie a genetiky, FN Brno
⁴ Klinika dětské neurologie 2. LF UK a FN v Motole, Praha
⁵ Neurologická klinika 2. LF UK a FN v Motole, Praha

Summary

Swallowing disorder represents a serious clinical symptom that in childhood tends to be part of a complex disease, frequently of neurological origin. In the following text we present a case of a patient with a very rare cause of dysphagia combined with very mild manifestations of congenital myopathy due to genetically determined desminopathy with a bialelic homozygous mutation in the DES gene. The dominant manifestation in our patient was a severe form of swallowing disorder with massive silent aspirations of both liquid and semi-solid food, which led to the indication for percutaneous endoscopic gastrostomy placement during infancy. This case report extends the phenotypic spectrum of autosomal recessive desminopathy by adding dysphagia as an initial clinical manifestation and highlights the importance of genetic reassessment in children with atypical swallowing disorder.

Keywords

swallowing disorder, desminopathy, percutaneous endoscopic gastrostomy

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