Posterior fossa syndrome in a patient with an ornithine transcarbamylase deficiency

作者：Nedermeijer S C M^*; van den Hout J; Geleijns C; de Klerk H; Catsman Berrevoets C E

来源：European Journal of Paediatric Neurology, 2015, 19(3): 364-366.

DOI：10.1016/j.ejpn.2014.12.001

• OTC
• Ornithine transcarbamylase deficiency
• Posterior fossa syndrome
• PFS

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.

• 出版日期2015-5