Open AccessCase 280
Author(s) -
K. P. Fung,
Yin Yee Kwong,
Wing Sze Mak,
Yee Ling Elaine Kan
Publication year - 2020
Publication title -
radiology
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 3.118
H-Index - 295
eISSN - 1527-1315
pISSN - 0033-8419
DOI - 10.1148/radiol.2020182236
Subject(s) - medicine , hypotonia , pediatrics , pneumonia , pregnancy , muscle tone , vaginal delivery , genetics , psychiatry , biology
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.