Case 280.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 32176599.
- Also identified by DOI 10.1148/radiol.2020182236.
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Abstract
HistoryAn 8-month-old previously healthy boy was referred to our institution by the maternal child health center for progressive truncal hypotonia and developmental delay. This infant was born after an uncomplicated pregnancy with no perinatal complications. He was delivered at full term via spontaneous vaginal delivery. Two of his older male siblings died around 2-3 years of age due to pneumonia. According to the parents, these siblings also displayed reduced muscle tone, and one of them developed recurrent seizure.