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            : MRI findings in carbamoyl phosphate synthetase 1 deficiency

Nunley, Sunjay; Ghosh, Debabrata

doi:10.1212/wnl.0000000000001546

Cited by 2 publications

(4 citation statements)

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“…Dysfunction of the urea cycle could involve stroke and SLEs. SLEs may be observed in carbamoyl phosphate synthetase I (CPS1) deficiency, ornithine transcarbamylase (OTC) deficiency and citrullinemia [ 3 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 59 , 60 , 61 , 62 , 63 , 64 , 65 , 66 ]. The pathogenesis of stroke-like events in patients affected by urea cycle disorders is unclear.…”

Section: Resultsmentioning

confidence: 99%

“…Those who present in adulthood usually have milder symptoms than children and also may be asymptomatic. MRI shows cortical injuries, including acute ischemia, ventricular dilatation and myelination defects [ 54 , 55 , 56 , 57 ].…”

Section: Resultsmentioning

confidence: 99%

“…The features of various neurometabolic disorders characterized by the occurrence of SLEs include genetic and molecular basis, clinical manifestations, MRI and EEG results, onset and prevalence and treatment methods ( Table 1 ) [ 2 , 3 , 4 , 7 , 8 , 9 , 11 , 13 , 14 , 15 , 16 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 59 , …”

Section: Resultsmentioning

confidence: 99%

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Stroke-like Episodes in Inherited Neurometabolic Disorders

2022

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Stroke-like episodes (SLEs) are significant clinical manifestations of metabolic disorders affecting the central nervous system. Morphological equivalents presented in neuroimaging procedures are described as stroke-like lesions (SLLs). It is crucial to distinguish SLEs from cerebral infarction or intracerebral hemorrhage, mainly due to the variety in management. Another significant issue to underline is the meaning of the main pathogenetic hypotheses in the development of SLEs. The diagnostic process is based on the patient’s medical history, physical and neurological examination, neuroimaging techniques and laboratory and genetic testing. Implementation of treatment is generally symptomatic and includes L-arginine supplementation and adequate antiepileptic management. The main aim of the current review was to summarize the basic and actual knowledge about the occurrence of SLEs in various inherited neurometabolic disorders, discuss the possible pathomechanism of their development, underline the role of neuroimaging in the detection of SLLs and identification of the electroencephalographic patterns as well as histological abnormalities in inherited disorders of metabolism.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

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Stroke-like Episodes in Inherited Neurometabolic Disorders

2022

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“…[3] In addition, the curvilinear hyperintensities in subcortical white matter seen on follow-up of this child have also been suggested to be a clue to an underlying proximal urea cycle disorder. [4]…”

Section: Discussionmentioning

confidence: 99%

Late-onset citrullinemia type I: A radiological mimic of herpes encephalitis

Kadwa

Sankhyan²,

Ahuja

et al. 2019

J Pediatr Neurosci

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We describe a 10 year old boy who presented with acute onset rapidly progressing encephalopathy. MRI revealed bilateral insular cortex and basifrontal involvement suggesting Herpes encephalitis.He was treated with acyclovir and his symptoms improved. Six months after the first hospitalization he reported back with two episodes of partial seizures. He was started on Valproate. A week after starting valproate he was readmitted with hyperammonemic encephalpathy, on further investigations Citrullinemia Type 1 was diagnosed. This case highlights a metabolic disorder which radiologically mimics herpes encephalitis. The management of the disorder differs remarkably from herpes encephalitis and hence its recognition and suspicion based on radiology is critical.

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Teaching Neuro Images : MRI findings in carbamoyl phosphate synthetase 1 deficiency

Abstract: Go to Neurology.org for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.

Cited by 2 publications

References 1 publication

Stroke-like Episodes in Inherited Neurometabolic Disorders

Stroke-like Episodes in Inherited Neurometabolic Disorders

Late-onset citrullinemia type I: A radiological mimic of herpes encephalitis

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