MRI Findings in Acute Hyperammonemic Encephalopathy: Three Cases of Different Etiologies

Reis, Elizabeth; Coolen, Tim; Lolli, Valentina

doi:10.5334/jbsr.2017

Cited by 20 publications

(13 citation statements)

References 17 publications

(25 reference statements)

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“…The affected areas of cortical and deep grey matter show hyperintensity on T2-weighted images, which is more striking on FLAIR and DWI, while decreased diffusivity may be present on ADC maps. The basal ganglia are usually spared, along with perirolandic and occipital cortices [52,53].…”

Section: Acute Hyperammonaemic Encephalopathymentioning

confidence: 99%

Bilateral lesions of the basal ganglia and thalami (central grey matter)—pictorial review

et al. 2020

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The basal ganglia and thalami are paired deep grey matter structures with extensive metabolic activity that renders them susceptible to injury by various diseases. Most pathological processes lead to bilateral lesions, which may be symmetric or asymmetric, frequently showing characteristic patterns on imaging studies. In this comprehensive pictorial review, the most common and/or typical genetic, acquired metabolic/toxic, infectious, inflammatory, vascular and neoplastic pathologies affecting the central grey matter are subdivided according to the preferential location of the lesions: in the basal ganglia, in the thalami or both. The characteristic imaging findings are described with emphasis on the differential diagnosis and clinical context.

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Section: Acute Hyperammonaemic Encephalopathymentioning

confidence: 99%

Bilateral lesions of the basal ganglia and thalami (central grey matter)—pictorial review

et al. 2020

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“…Symmetrical extensive cortical signal abnormalities are detected in the insula, cingulate gyrus, and thalami, as in our case, and often accompany cytotoxic edema with spared perirolandic and occipital areas. 4 These imaging findings can be shown in hypoxic-ischemic encephalopathy, limbic encephalitis, hypertensive, metabolic, and Creutzfeldt-Jakob encephalopathy. 4 However, in the setting of acute ammonia elevation, hyperammonemic encephalopathy should be considered first.…”

mentioning

confidence: 99%

“… 4 These imaging findings can be shown in hypoxic-ischemic encephalopathy, limbic encephalitis, hypertensive, metabolic, and Creutzfeldt-Jakob encephalopathy. 4 However, in the setting of acute ammonia elevation, hyperammonemic encephalopathy should be considered first.…”

mentioning

confidence: 99%

“… 1 Hyperammonemia due to OTCD presents with various neurological symptoms such as nausea, irritability, neuropsychiatric changes, coma, or even death. 4 Asymptomatic OTCD patients may develop symptoms due to hyperammonemia if triggered by physiological stress or catabolism. 2 In this rare case of adult-onset OTCD in male, catabolism by starvation was thought to have caused hyperammonemia.…”

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confidence: 99%

“…Other hypotheses are that glutamine enters the astrocytic mitochondria and causes cell death, or that glutamine can interrupt neurotransmission. 4 …”

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confidence: 99%

See 2 more Smart Citations

Fatal Encephalopathy Caused by a Urea Cycle Disorder

et al. 2021

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MRI in LARS1 deficiency—Spectrum, patterns, and correlation with acute neurological deterioration

Hammann,

Lenz,

Bianzano

et al. 2024

J of Inher Metab Disea

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Leucine aminoacyl tRNA‐synthetase 1 (LARS1)‐deficiency (infantile liver failure syndrome type 1 (ILFS1)) has a multisystemic phenotype including fever‐associated acute liver failure (ALF), chronic neurologic abnormalities, and encephalopathic episodes. In order to better characterize encephalopathic episodes and MRI changes, 35 cranial MRIs from 13 individuals with LARS1 deficiency were systematically assessed and neurological phenotype was analyzed. All individuals had developmental delay and 10/13 had seizures. Encephalopathic episodes in 8/13 were typically associated with infections, presented with seizures and reduced consciousness, mostly accompanied by hepatic dysfunction, and recovery in 17/19 episodes. Encephalopathy without hepatic dysfunction occurred in one individual after liver transplantation. On MRI, 5/7 individuals with MRI during acute encephalopathy had deep gray matter and brainstem changes. Supratentorial cortex involvement (6/13) and cerebellar watershed injury (4/13) occurred with seizures and/or encephalopathy. Abnormal brainstem contour on sagittal images (8/13), atrophy (8/13), and myelination delay (8/13) were not clearly associated with encephalopathy. The pattern of deep gray matter and brainstem changes are apparently characteristic of encephalopathy in LARS1‐deficiency, differing from patterns of hepatic encephalopathy or metabolic stroke in organic acidurias and mitochondrial diseases. While the pathomechanism remains unclear, fever and energy deficit during infections might be causative; thus, sufficient glucose and protein intake along with pro‐active fever management is suggested. As severe episodes were observed during influenza infections, we strongly recommend seasonal vaccination.

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MRI Findings in Acute Hyperammonemic Encephalopathy: Three Cases of Different Etiologies

Cited by 20 publications

References 17 publications

Bilateral lesions of the basal ganglia and thalami (central grey matter)—pictorial review

Bilateral lesions of the basal ganglia and thalami (central grey matter)—pictorial review

Fatal Encephalopathy Caused by a Urea Cycle Disorder

MRI in LARS1 deficiency—Spectrum, patterns, and correlation with acute neurological deterioration

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