title: Posterior fossa syndrome in a patient with an ornithine transcarbamylase deficiency.
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors: Department of Neurology, Sint Lucas Andreas Hospital, Amsterdam, Netherlands. Electronic address: s.nedermeijer@slaz.nl.
authors: S C M
authors: SC
authors: Nedermeijer
authors: Department of Paediatric Neurology, Erasmus MC, Erasmus Universi-ty Hospital Rotterdam and Sophia Children's Hospital, Rotterdam, Netherlands.
authors: J
authors: J
authors: van den Hout
authors: Department of Paediatric Neurology, Erasmus MC, Erasmus Universi-ty Hospital Rotterdam and Sophia Children's Hospital, Rotterdam, Netherlands.
authors: C
authors: C
authors: Geleijns
authors: Centre for Lysosomal and Metabolic Diseases, Departments of Internal Med-icine and Pediatrics, Erasmus MC, Rotterdam, Netherlands.
authors: H
authors: H
authors: de Klerk
authors: Department of Paediatric Neurology, Erasmus MC, Erasmus Universi-ty Hospital Rotterdam and Sophia Children's Hospital, Rotterdam, Netherlands.
authors: C E
authors: CE
authors: Catsman-Berrevoets
mesh_terms: D001259:Ataxia / Q000209:etiology; D001927:Brain Diseases / Q000209:etiology*; D002648:Child; D002653:Child Behavior Disorders / Q000209:etiology; D005260:Female; D006801:Humans; D007564:Japan; D009155:Mutism / Q000209:etiology; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000150:complications*; D013577:Syndrome
keywords: OTC; Ornithine transcarbamylase deficiency; PFS; Posterior fossa syndrome