Posterior fossa syndrome in a patient with an ornithine transcarbamylase deficiency

Samantha Nedermeijer, J van den Hout, CPW Geleijns, H de Klerk, Coriene Catsman - Berrevoets

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The posterior fossa syndrome (PFS) is a well-known clinical entity and mainly occurs in children. Ornithine transcarbamylase deficiency (OTC) is the most common urea cycle disorder, which occurs in an estimated 1 per 50.000 live births in Japan. Symptoms are mostly due to hyperammonemia and include nausea, vomiting, lethargia and even convulsions and coma. Common neurological symptoms at presentation of a hyperammonemia are a decreased level of consciousness, abnormal motor function or seizures. In this case we describe a girl with late onset OCT deficiency presenting with transient mutism and subsequent dysarthria, ataxia and behavioural changes. This is an exceptional report of a not yet described neurologic syndrome in OTC. Synopsis: Neurologic symptoms in ornithine transcarbamylase deficiency do not only occur during an episode of hyperammonemia and may present as a transient neurologic symptoms compatible with the posterior fossa syndrome. (C) 2014 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
Original languageUndefined/Unknown
Pages (from-to)364-366
Number of pages3
JournalEuropean Journal of Paediatric Neurology
Issue number3
Publication statusPublished - 2015

Research programs

  • EMC MM-04-44-02

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