Posterior fossa syndrome in a patient with an ornithine transcarbamylase deficiency

Eur J Paediatr Neurol. 2015 May;19(3):364-6. doi: 10.1016/j.ejpn.2014.12.001. Epub 2014 Dec 24.

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.

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.

Keywords: OTC; Ornithine transcarbamylase deficiency; PFS; Posterior fossa syndrome.

Publication types

  • Case Reports

MeSH terms

  • Ataxia / etiology
  • Brain Diseases / etiology*
  • Child
  • Child Behavior Disorders / etiology
  • Female
  • Humans
  • Japan
  • Mutism / etiology
  • Ornithine Carbamoyltransferase Deficiency Disease / complications*
  • Syndrome