Affiliations: Department II of Pediatrics Medical School Hanover,
Germany | Department III of Pediatrics Medical School Hanover,
Germany | Department of Neuroradiology, Medical School Hanover,
Germany | Department of Pediatric Hematology and Oncology,
Hamburg-Eppendorf, Germany
Note: [] Correspondence: Thomas Lücke, M.D., Department of
Pediatrics Medical School Hanover Carl-Neuberg-Str. 1 D-30623 Hanover, Germany.
Tel: 049-511-5323220, fax: 049-511-5328073. E-mail:
[email protected]
Abstract: Congenital ornithine transcarbamylase deficiency (OTCD, OMIM 311250,
Xp21.1) in humans results in hyperammonaemia with subsequent neurological
symptoms including hypotonia, seizures and mental retardation. At the age of 3
years a hyperkinetic-hyperactive behaviour disorder of unknown origin was
diagnosed in our female patient. The girl, ultimately diagnosed as having OTCD
presented at the age of 6 years with an episode of fever-associated metabolic
stroke including coma, epilepsy and further neurological symptoms due to
hyperammonaemia. The pattern of plasma amino acids, the elevated level of
orotic acid in urine and mutation analysis confirmed the diagnosis of OTCD. The
possibility of early diagnosis and therapy of a disease which otherwise leads
to severe neurological and psychiatric sequelae emphasizes the importance of
precise evaluation of a possible organic cause for hyperkinetic-hyperactive
behaviour disorders. This case of late-onset OTCD demonstrates that total
recovery is possible even after a long coma-episode with slow reconvalescence.
(J Pediatr Neurol 2004; 2(2): 97–100).
