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CNS 2016
December 05-07, 2016
Volume 7, Issue 5(Suppl) J Neurol Neurophysiol
ISSN: 2155-9562 JNN, an open access journal
conferenceseries .com
December 05-07, 2016 Dubai, UAE
2nd International Conference on
Central Nervous System Disorders & Therapeutics
Hussein Algahtani et al., J Neurol Neurophysiol 2016, 7:5(Suppl)
Urea cycle disorder misdiagnosed as multiple sclerosis: A case report
Hussein Algahtani, Yousef Marzouk, Hind Abobaker and Bader Shirah
King Saud bin Abdulaziz University for Health Sciences, KSA
Urea cycle disorders (UCD) are a collection of inborn errors of metabolism caused by dysfunction of any of the six enzymes
or two transport proteins involved in urea biosynthesis. Urea cycle is the final pathway for nitrogen metabolism and
dysfunction of this important pathway cause UCD, which are more common during the neonatal period. The suspicion for this
metabolic disorder arises when patients present with elevated blood ammonia level and neurological manifestation without
underlying hepatocellular dysfunction. In this article, we report a patient who presented with neurological dysfunction and
coma in the immediate postpartum period. She was misdiagnosed for many years as a case of demyelinating disorder. The
diagnosis was confirmed based on the presence of urine orotic acid and elevated certain serum amino acid levels. Hemodialysis
was performed to the patient to correct the hyperammonemic-related dysfunction which was unresponsive to conventional
measures. She improved gradually with repeated hemodialysis and made a full recovery. Her clinical and radiological status has
not changed for five years since diagnosis was made. The importance of reporting this case is to illustrate that wrong diagnosis
of patients as being affected with multiple sclerosis for many years due to MRI abnormalities rather than classical relapsing
remitting nature of the disease may lead to grave consequences. In addition, the patient was treated with intravenous steroids
several times which is contraindicated in patients with UCD as it may precipitate acute hyperammonemic attacks. We believe
that the presence of symmetrical hyperintense insular cortical changes is pathognomonic for UCD. This radiological sign is
extremely rare and seldom reported in the literature.
Biography
Hussein Algahtani is the Associate Dean of clinical affairs and the Head of the simulation Center in the College of Medicine at King Saud bin Abdulaziz University for
Health Sciences in Jeddah, Saudi Arabia. He is also an Assistant Professor in Neurology and the neurosciences block coordinator. In addition, he is the Neurology
section Head and the Head of Neurophysiology laboratory at King Abdulaziz medical city in Jeddah, Saudi Arabia. He is a well-known researcher with more than
50 publications in the literature.