The pathogenesis of hydrocephalus in inborn errors of the single carbon transfer pathway

A Rossi, R Biancheri, P Tortori-Donati - Neuropediatrics, 2001 - thieme-connect.com
A Rossi, R Biancheri, P Tortori-Donati
Neuropediatrics, 2001thieme-connect.com
Although further experimental studies are awaited to support this hypothesis, we believe this
is a tenable explanation for the occurrence of hydrocephalus in this group of disorders.
Awareness of the fact that tetraventricular hydrocephalus may be caused by metabolic
disorders is especially important as these causes are often overlooked in favour of more
common aetiologies such as infection, haemorrhage, tumour, or congenital malformations.
Therefore, we agree with Baethmann et al in that plasma amino acid determinations …
Although further experimental studies are awaited to support this hypothesis, we believe this is a tenable explanation for the occurrence of hydrocephalus in this group of disorders. Awareness of the fact that tetraventricular hydrocephalus may be caused by metabolic disorders is especially important as these causes are often overlooked in favour of more common aetiologies such as infection, haemorrhage, tumour, or congenital malformations. Therefore, we agree with Baethmann et al in that plasma amino acid determinations including homocysteine should be implemented in the aetiological work-up of infants with tetraventricular hydrocephalus of unknown origin.
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