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from Myopathies
Published online by Cambridge University Press: 29 November 2024
A five-month-old girl was referred with hypotonia and muscle weakness from birth onwards. She was born after an unremarkable pregnancy during a planned home birth at 40 weeks’ gestational age as the second child from healthy, unrelated parents. In the first days after her birth, they noted a paucity in movements and a low muscle tone. Breastfeeding failed, as she was unable to suck sufficiently. Bottle feeding with an adapted nipple also was a problem, and she often coughed or threw up after drinking. At the age of three months, a percutaneous endoscopic gastrostomy (PEG) probe had been placed to ensure caloric intake. Swallowing had gradually improved in the past month and now she managed to swallow small quantities of purified fruit and vegetables.
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