Electroencephalography and transcranial Doppler ultrasonography in neonatal citrullinemia

Su, Pen‐Hua; Chen, Jia-Yuh; Chen, Yung-Jung; Niu, Dau‐Ming; Hsu, Ju-Hui; Lee, Inn‐Chi

doi:10.1016/j.jfma.2010.12.004

Cited by 3 publications

(3 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…However, EEG was found to be normal, contrary to the expected EEG findings consisting of burst suppression, multifocal spikes, or repetitive paroxysmal activity at times of classical crisis of citrullinemia. [ 7 ] Thanks to the analysis of plasma and urine amino acids, elevated levels of citrulline were detected, which proved useful in the diagnosis of citrullinemia. To confirm the disease, we studied and identified two mutations of ASS1.…”

Section: Discussionmentioning

confidence: 99%

Citrullinemia with an atypical presentation: Paroxysmal hypoventilation attacks

et al. 2018

View full text Add to dashboard Cite

Citrullinemia type 1 (CTLN1) is a rare inherited urea cycle disorder, which resulted from the deficiency of argininosuccinate synthetase enzyme. We presented an infant who was hospitalized because of acute losses of tonus and cyanotic hypoventilation attacks lasting approximately 4–5 min. The physical and neurological examinations were normal. Ammonia level was in the normal range. Citrulline levels increased in both blood and urine. The blood sample was sent to mutation analysis, which showed one novel and one known mutation on ASS1 gene sequencing: a heterozygous novel mutation p.A94V (c.281C>T) and a heterozygous mutation p.W179R (c.535C>T). Urea cycle disorders should be considered in the differential diagnosis of unexplained brief apnea or hypoventilation attacks, even though those symptoms do not lead to hyperammonemia during infancy and childhood as seen in our patient. This is the first case in terms of atypical clinical presentation with a new mutation for CTLN1.

show abstract

Section: Discussionmentioning

confidence: 99%

Citrullinemia with an atypical presentation: Paroxysmal hypoventilation attacks

et al. 2018

View full text Add to dashboard Cite

show abstract

“…Electroencephalography has shown similar characteristics in 3 newborns with hyperammonemia: multifocal spikes or repetitive paroxysmal activity during crisis 13 but is not specific. Its interest lay mostly in detecting seizures in a comatose or sedated patient.…”

Section: Diagnosis and Etiologies Of Hyperammonemiamentioning

confidence: 99%

“…Of note, cerebral blood flow could increase before symptomatic intracranial hypertension. 13 Careful TCD monitoring could, therefore, permit an early intracranial hypertension diagnosis. From our center’s experience, TCD is the method of choice to routinely and noninvasively monitor cerebral blood flow and guide medical therapy.…”

Section: Diagnosis and Etiologies Of Hyperammonemiamentioning

confidence: 99%

Acute pediatric hyperammonemia: current diagnosis and management strategies

Savy¹,

Brossier²,

Brunel‐Guitton³

et al. 2018

HMER

View full text Add to dashboard Cite

Acute hyperammonemia may induce a neurologic impairment leading to an acute life-threatening condition. Coma duration, ammonia peak level, and hyperammonemia duration are the main risk factors of hyperammonemia-related neurologic deficits and death. In children, hyperammonemia is mainly caused by severe liver failure and inborn errors of metabolism. In an acute setting, obtaining reliable plasma ammonia levels can be challenging because of the preanalytical difficulties that need to be addressed carefully. The management of hyperammonemia includes 1) identification of precipitating factors and cerebral edema presence, 2) a decrease in ammonia production by reducing protein intake and reversing catabolism, and 3) ammonia removal with pharmacologic treatment and, in the most severe cases, with extracorporeal therapies. In case of severe coma, transcranial Doppler ultrasound could be the method of choice to noninvasively monitor cerebral blood flow and titrate therapies.

show abstract