Hypotonia and feeding problems in the newborn: a congenital myotonic dystrophy type 1 clinical case

  • Cláudia Teles Silva Pediatrics Department, Hospital Pediátrico Integrado, Centro Hospitalar Universitário de São João
  • Cristina Madureira Pediatrics Department, Unidade de Famalicão, Centro Hospitalar Médio Ave
  • Cláudia Melo Neuropediatrics Unit, Hospital Pediátrico Integrado, Centro Hospitalar Universitário de São João
  • Cecília Martins Pediatrics Department, Unidade de Famalicão, Centro Hospitalar Médio Ave
  • Raquel Cardoso Pediatrics Department, Unidade de Famalicão, Centro Hospitalar Médio Ave
  • Cristina Miguel Pediatrics Department, Unidade de Famalicão, Centro Hospitalar Médio Ave
Keywords: Congenital myotonic dystrophy, DMPK gene, Hypotonia, Steinert’s disease

Abstract

Introduction: Congenital myotonic dystrophy type 1 (DM1) is characterized by hypotonia and severe general weakness at birth, often with respiratory distress and even death.
Clinical report:A newborn male with prenatal diagnosis of ventriculomegaly and polyhydramnios was born at 39 weeks of gestation with no immediate occurrences and a maternal family history of two cases with unspecified neuromuscular conditions. The newborn was admitted in the second day of life due to feeding problems and desaturation episodes, presenting with hypotonia, non-vigorous crying, facial diplegia, and arthrogryposis of the lower limbs. A genetic study for myotonic dystrophy was requested, which revealed cytosine thiamine and guanine (CTG) expansion in the DMPK gene (1100−1400 repeats), confirming diagnosis of congenital DM1.
Discussion and conclusions: Despite the presence of congenital DM1, this newborn presents with a milder phenotype than expected for the condition. Symptom recognition, combined with family history, allowed an early diagnosis and adequate follow-up.

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Published
2019-01-02
Section
Case Reports