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Posterior fossa syndrome in a patient with an ornithine transcarbamylase deficiency

By S. C M Nedermeijer, J. Van Den Hout, C. Geleijns, H. De Klerk and C. E. Catsman-Berrevoets


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

Topics: Ornithine transcarbamylase deficiency, OTC, PFS, Posterior fossa syndrome, Clinical Neurology, Pediatrics, Perinatology, and Child Health
Year: 2015
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