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Unrecognized citrullinemia mimicking encephalitis in a 14-year-old boy: unexpected result through the use of a standardized lumbar puncture protocol


Karall, Daniela; Haberlandt, Edda; Albrecht, Ursula; Rostasy, Kevin; Häberle, Johannes; Scholl-Bürgi, Sabine (2012). Unrecognized citrullinemia mimicking encephalitis in a 14-year-old boy: unexpected result through the use of a standardized lumbar puncture protocol. Neuropediatrics, 43(2):59-63.

Abstract

Citrullinemia is a urea cycle disorder caused by deficiency of argininosuccinate synthetase. Late onset forms can remain undiscovered until a decompensation that can resemble encephalitis. Herein, we report a 14-year old patient with suspected encephalitis with fluctuating episodes of confusion. EEG mainly showed bilateral slowing with some spikes plus spike waves; and was interpreted as suspicious for encephalitis. Brain MRI was normal. Leukocytes in CSF were slightly elevated. Treatment for a CNS infectious disease was begun. Symptoms did not resolve and there were several episodes of confusion, so a repeat lumbar puncture was performed according to a standardized protocol including an amino acid profile. An elevation of citrulline in CSF was found, which ultimately led to the diagnosis of a late onset citrullinemia. The establishment of this diagnosis will protect the patient from the sequelae of unrecognized and thus untreated episodes of hyperammonemia. Thus, following a standardized lumbar puncture protocol can be essential to detect patients with otherwise unrecognized underlying metabolic disorders that are not suspected because of clinical symptoms. In addition, it is important to stress that an ammonia concentration should be determined in any patient with neurological signs like confusion.

Citrullinemia is a urea cycle disorder caused by deficiency of argininosuccinate synthetase. Late onset forms can remain undiscovered until a decompensation that can resemble encephalitis. Herein, we report a 14-year old patient with suspected encephalitis with fluctuating episodes of confusion. EEG mainly showed bilateral slowing with some spikes plus spike waves; and was interpreted as suspicious for encephalitis. Brain MRI was normal. Leukocytes in CSF were slightly elevated. Treatment for a CNS infectious disease was begun. Symptoms did not resolve and there were several episodes of confusion, so a repeat lumbar puncture was performed according to a standardized protocol including an amino acid profile. An elevation of citrulline in CSF was found, which ultimately led to the diagnosis of a late onset citrullinemia. The establishment of this diagnosis will protect the patient from the sequelae of unrecognized and thus untreated episodes of hyperammonemia. Thus, following a standardized lumbar puncture protocol can be essential to detect patients with otherwise unrecognized underlying metabolic disorders that are not suspected because of clinical symptoms. In addition, it is important to stress that an ammonia concentration should be determined in any patient with neurological signs like confusion.

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2 citations in Web of Science®
3 citations in Scopus®
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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:April 2012
Deposited On:20 Feb 2013 13:47
Last Modified:05 Apr 2016 16:31
Publisher:Georg Thieme Verlag
ISSN:0174-304X
Publisher DOI:https://doi.org/10.1055/s-0032-1307453
PubMed ID:22473243

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