Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria
✍ Scribed by Marine Jequier Gygax; Eliane Roulet-Perez; Kathleen Meagher-Villemure; Cornelis Jakobs; Gajja S. Salomons; Olivier Boulat; Andrea Superti-Furga; Diana Ballhausen; Luisa Bonafé
- Publisher
- Springer
- Year
- 2008
- Tongue
- English
- Weight
- 238 KB
- Volume
- 168
- Category
- Article
- ISSN
- 0340-6997
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
We studied 21 patients, from 18 families, with L-2-hydroxyglutaric aciduria (L-2-HGA), a rare neurometabolic disorder with a homogeneous presentation: progressive neurodegeneration with extrapyramidal and cerebellar signs, seizures, and subcortical leukoencephalopathy. Increased levels of L-2-hydrox
## Abstract P250R mutation in the __FGFR3__ gene also known as Muenke syndrome is associated with coronal craniosynostosis, sensorineural deafness, craniofacial, and digital abnormalities. We report a family with this mutation associated with sudden death in an affected newborn, most probably due t
## Abstract Congenital extrahepatic portosystemic shunt (CEPS) is associated with polysplenia and heterotaxy and can cause portopulmonary hypertension. We report a 12‐month‐old girl who acutely died likely due to portopulmonary hypertension secondary to CEPS associated with heterotaxy and polysplen