Prosaposin Deficiency - a Rarely Diagnosed, Rapidly Progressing, Neonatal Neurovisceral Lipid Storage Disease. Report of a Further Patient

Abstract An infant presented with multifocal myoclonus and cyanotic hypoxemia immediately after birth, and severe feeding problems, a protein-losing enteropathy, massive ascites and grand-mal epilepsy marked his rapid downhill course, with death at 17 weeks. At 2 weeks, brain MRI revealed grey matte...

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Veröffentlicht in:	Neuropediatrics 2005-06, Vol.36 (3), p.171-180
Hauptverfasser:	Elleder, M., Jeřábková, M., Befekadu, A., Hřebíček, M., Berná, L., Ledvinová, J., Hůlková, H., Rosewich, H., Schymik, N., Paton, B. C., Harzer, K.
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Brain - metabolism Brain - pathology Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Fatal Outcome Fibroblasts - metabolism Fibroblasts - pathology Glycolipids - metabolism Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy Humans Hydrolases - metabolism Infant, Newborn Lipid Metabolism, Inborn Errors - genetics Lipid Metabolism, Inborn Errors - metabolism Lipid Metabolism, Inborn Errors - pathology Male Medical sciences Nervous system (semeiology, syndromes) Neurology Original Article Saposins - deficiency Saposins - genetics Sphingolipids - metabolism
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