Non-Immune Hydrops, Hypotonia, Encephalopathy, and Liver Failure with Novel Compound Heterozygous AHCY Mutations
| Autor: | Brianna C. MacQueen, Rong Mao, Jessica M. Comstock, Josue Flores-Daboub, Allison J. Judkins, Robert D. Christensen |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty business.industry Encephalopathy Prenatal diagnosis Compound heterozygosity medicine.disease Gastroenterology Asymptomatic Hypotonia 03 medical and health sciences 030104 developmental biology Internal medicine Pediatrics Perinatology and Child Health medicine Coagulopathy Etiology medicine.symptom business Exome sequencing Developmental Biology |
| Zdroj: | Neonatology. 114:337-340 |
| ISSN: | 1661-7819 1661-7800 |
| Popis: | A late-preterm infant with a prenatal diagnosis of non-immune hydrops was born with hypotonia, poor respiratory effort, chylothorax, encephalopathy, coagulopathy, progressive hepatic failure, and refractory pulmonary hypertension. Life support was withdrawn at 7 days of life due to multisystem organ failure. Rapid whole exome sequencing revealed novel compound heterozygous mutations in the gene encoding S-adenosylhomocysteine hydrolase (AHCY); each novel variant was carried by an asymptomatic parent. Reports of neonates with other AHCY mutations describe a pathology of varying severity. AHCY mutations should be considered when seeking an etiology for neonates with the combination of non-immune hydrops, hypotonia, encephalopathy, and liver failure. |
| Databáze: | OpenAIRE |
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