The Italian Journal of Neurological Sciences

, Volume 14, Issue 6, pp 461–464

Hyperammoniemic coma in an adolescent girl: An unusual case of ornithine transcarbamylase deficiency

  • Perini M. 
  • Zarcone D. 
  • Corbetta C. 
Case Reports

Abstract

Ornithine transcarbamylase deficiency (OTCD) is caused by an alteration of urea synthesis, linked with partial modification of the X-chromosome, whose clinical manifestations are: lethargy, nausea, vomiting and cerebral edema. While in newborn males OTCD presents with hyperammoniemia leading to cerebral palsy with profound neurological impairment and eventually death, in women who are healthy carriers, it is possible to detect the disorder only through specific tests, since heterozygote women are rarely symptomatic. We describe the case of a young woman admitted to the hospital after an episode of mental confusion with vomiting and psychomotor restlessness, which had previously occurred several times during the premenstruum and lasted a few hours. A 2 day history of stupor made admission mandatory. Tests carried out during the hospital stay showed marked hyperammoniemia and unconjugated hyperbilirubinemia, marked cerebral edema documented by a CT scan. Liver biopsy and CSF test were normal. Screening of plasma and urinary aminoacids, level of orotic acid in the urine and OTC activity in the liver, confirmed the diagnosis of OTCD.

The possibility of early diagnosis and therapy of a disease which otherwise leads to death, emphasizes the importance of precise evaluation of a possible organic cause of anorexia and behaviour disorders in young women.

Key Words

Ornithine transcarbamylase deficiency coma hyperammoniemia 

Sommario

Il deficit di ornitintranscarbamilasi (OTCD) è determinato da un'alterazione della sintesi di urea, legata ad una parziale modificazione del cromosoma X, le cui manifestazioni cliniche sono caratterizzate da sonnolenza, nausea, vomito, edema cerebrale. Mentre nei neonati maschi l'OTCD si manifesta con iperammoniemia seguita da paralisi cerebrale con importanti deficit neurologici ed eventualmente decesso, nelle donne, che sono portatrici sane, è possibile rilevare la malattia solo attraverso specifici tests, dato che le donne eterozigoti sono raramente sintomatiche.

Gli Autori descrivono il caso di un'adolescente ricoverata dopo un episodio confusionale, nausea, vomito, irrequietezza psicomotoria, presentatosi diverse volte durante il periodo premestruale e protrattosi diverse ore.

L'episodio attuale, perdurante da 2 giorni, portò al ricovero ospedaliero. I test eseguiti durante il ricovero evidenziarono marcata iperammoniemia e incremento della bilirubinemia indiretta, evidente edema cerebrale alla TAC cranio.

La biopsia epatica e l'esame liquorale risultarono nella norma.

Uno screening degli aminoacidi urinari e plasmatici, dell'acido orotico urinario e dell'attività epatica dell'OTC confermarono la diagnosi di OTCD.

La possibilità di diagnosi precoce e di terapia per una malattia che altrimenti porta a morte, rileva l'importanza di una precisa valutazione di una possibile causa organica in giovani affette da anoressia e disturbi del comportamento.

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Copyright information

© Masson Italia Periodici S.r.l. 1993

Authors and Affiliations

  • Perini M. 
    • 1
  • Zarcone D. 
    • 1
  • Corbetta C. 
    • 2
  1. 1.Divisione di NeurologiaOspedale S. Antonio AbateGallarate (VA)
  2. 2.Laboratorio di ricerche cliniche anatomia ed istologia patologicaIstituti Clinici di PerfezionamentoMilano
  3. 3.U.O. di NeurologiaOspedale S. Antonio AbateGallarate (Va)

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