Case 280.

Radiology

From the Department of Diagnostic and Interventional Radiology, Kwong Wah Hospital, 25 Waterloo Road, Yau Ma Tei, Hong Kong (K.F.K.F., Y.Y.K., W.S.M.); and Department of Radiology, Hong Kong Children's Hospital, Hong Kong (Y.L.E.K.).

Published: April 2020

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.

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http://dx.doi.org/10.1148/radiol.2020182236DOI Listing

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