Teaching video NeuroImages: shake Mom's hand to get the diagnosis.

نویسندگان

  • Partha S Ghosh
  • Shalaka Indulkar
  • Manikum Moodley
چکیده

A term male newborn was admitted to the neonatal intensive care unit for respiratory distress and feeding difficulty. His 19-year-old mother was apparently healthy. The baby had generalized hypotonia, weakness, a weak cry, and a tented upper lip (figure). Maternal examination facilitated diagnosis (videos 1 and 2 on the Neurology Web site at www.neurology.org). Genetic testing identified 99 CTG repeats, confirming myotonic dystrophy type 1 (DM1), a trinucleotide repeat disorder involving the DMPK gene.1 Congenital DM1, usually maternally transmitted,2 presents antenatally with polyhydramnios and reduced fetal movements. Postnatally it presents with generalized weakness, hypotonia, respiratory compromise, and feeding difficulties.1 The inverted V-shaped upper lip represents facial weakness. Because myotonia is absent in newborns, examination of the mother is diagnostic.

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عنوان ژورنال:
  • Neurology

دوره 77 19  شماره 

صفحات  -

تاریخ انتشار 2011