PURA syndrome: a case report / 中华围产医学杂志
Chinese Journal of Perinatal Medicine
;
(12): 345-347, 2020.
Article
in Chinese
| WPRIM
| ID: wpr-871073
ABSTRACT
We hereby report a case of a full-term male neonate diagnosed with PURA syndrome with the symptoms of hypotonia, respiratory distress, feeding difficulty and lethargy. A heterozygous mutation of c.98dupG, p.(Gly34fs) in the PURA gene was detected using next-generation sequencing panel and the diagnosis of PURA syndrome was confirmed. This neonate was followed up for 6 months, and showed delayed mental development. PURA syndrome should be considered in neonates presenting with hypotonia, epilepsy, and delayed nervous system development, after excluding brain damage of premature, hypoxic-ischemic encephalopathy, and congenital metabolic defects. Genetic testing is needed to clarify the diagnosis.
Full text:
Available
Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
Chinese Journal of Perinatal Medicine
Year:
2020
Type:
Article
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