Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic disorders

Loiselet, Klervie; Ruzzenente, Benedetta; Roux, Charles‐Joris; Barcia, Giulia; Pennisi, Alessandra; Desguerre, Isabelle; Rötig, Agnès; Münnich, Arnold; Boddaert, Nathalie; Levy, Raphaël; Dangouloff‐Ros, Volodia; Grévent, David; Lonlay, Pascale de

doi:10.1111/dmcn.14814

Cited by 7 publications

(6 citation statements)

References 17 publications

(30 reference statements)

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“…The overall hyperperfusion of the lesion on ASL sequence, which could be a very unique feature, distinguished mitochondrial disease from adrenoleukodystrophy or inflammatory etiology. According to a recent investigation of Leigh syndrome, the increased cerebral blood flow detected by the ASL sequence is a hallmark in acute episodes, which coincides with our patient's MRI results (5). One hint to consider a mitochondrial disorder as a differential diagnosis was the presence of bilateral optic atrophy.…”

supporting

confidence: 90%

Convergence-Retraction Nystagmus and Ophthalmoplegia as the Presenting Sign of Leigh Syndrome in a Young Boy

Chen¹,

Feny²,

Sh³

et al. 2022

Journal of Neuro-Ophthalmology

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A 6-year-old boy complained of droopy eyelids and double vision for 2 months. There was no associated fever and headache nor any history of vision loss, developmental delay, or movement disorder. The ptosis improved, but the double vision persisted. Routine brain CT showed no pathological findings. The boy had 2 siblings, none of whom exhibited any similar symptoms. The neuro-ophthalmological examination revealed that the boy was alert and oriented. His best-corrected visual acuity was 20/20 bilaterally. Pupils were round and equal, and both reacted briskly to light. Funduscopic examination showed slight temporal pallor of the bilateral optic disc (Fig. 1A). There was no ptosis, but the horizontal and vertical extraocular motility was dramatically limited (Fig. 1B). A convergence-retraction nystagmus was observed while attempting up-gaze and down-gaze (see video, Supplemental Digital Content, http://links.lww.com/WNO/ A635). Other neurological examinations, including cranial nerves, FIG. 1. A. Fundus photographs showing bilateral optic disc with temporal pallor. B. External photographs of the 9 cardinal gaze positions showing both horizontal and vertical eye movement dysfunction. C. MRI T2-Flair revealing longitudinal dorsal hyperintensity lesions from cerebellar peduncles, pontine, midbrain, up to medial thalamus. D and E. Brain MRI sequence showing the lesions with a reduced signal in T1WI, hyperintensity in T2WI, without enhancement on T1WI after gadolinium; no hemorrhage on SWI, with marginal diffusion restriction on DWI, and the lesions showing a dramatic hyperperfusion on ASL.

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supporting

confidence: 90%

Convergence-Retraction Nystagmus and Ophthalmoplegia as the Presenting Sign of Leigh Syndrome in a Young Boy

Chen¹,

Feny²,

Sh³

et al. 2022

Journal of Neuro-Ophthalmology

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“… 31–37 However, striatal hypermetabolism was also described in non-auto-immune disorders such as Moya–Moya disease and hyperglycaemia. 38 , 39 As hyperperfusion of basal ganglia (BG) has also been described in metabolic disorders, 40 Leigh disease was initially suspected but not confirmed in our patients with LPDs. Using cortical, striatal and thalamic segmentation, we showed in our patients with ictal examinations, for the first time, A-CBF and R-CBF increase in corresponding C-S-T compartments, topographically correlated to the EEG focus, not necessarily related to motor manifestations neither to an auto-immune phenomenon.…”

Section: Discussionmentioning

confidence: 89%

Periodic electroencephalographic discharges and epileptic spasms involve cortico-striatal-thalamic loops on Arterial Spin Labeling Magnetic Resonance Imaging

Eisermann

Fillon

Saitovitch

et al. 2022

Brain Communications

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Periodic discharges are a rare peculiar EEG pattern, occasionally associated with motor or other clinical manifestations, usually observed in critically ill patients. Their underlying pathophysiology remains poorly understood. Epileptic spasms in clusters and periodic discharges with motor manifestations share similar EEG pattern and some etiologies of unfavorable prognosis such as Subacute Sclerosing Panencephalitis or herpes encephalitis. Arterial Spin Labeling Magnetic Resonance Imaging (ASL-MRI) identifies localizing ictal and inter-ictal changes in neurovascular coupling, therefore assumed able to reveal concerned cerebral structures. Here, we retrospectively analyzed ictal and inter-ictal ASL-MRI in patients aged 6m-15yrs (median 3y4m) with periodic discharges including epileptic spasms, and compared these findings to those of patients with drug-resistant focal epilepsy who never presented periodic discharges nor epileptic spasms as well as to those of age-matched healthy controls. Ictal EEG was recorded either simultaneously with ASL-MRI or during the close time lapse of patients’ periodic discharges, while inter-ictal exams were performed during the patients’ active epilepsy but without seizures during the ASL-MRI. Ictal ASL-MRI was acquired in five patients with periodic discharges (Subacute Sclerosing Panencephalitis (1), stroke-like events (3), West syndrome with cortical malformation (1), two of them also had inter-ictal ASL-MRI. Inter-ictal group included patients with drug-resistant epileptic spasms of various etiologies (14) and structural drug-resistant focal epilepsy (8). Cortex, striatum and thalamus were segmented and divided in 6 functional subregions: prefrontal, motor (rostral, caudal), parietal, occipital, temporal. Rest cerebral blood flow (CBF) values, absolute and relative to whole brain, were compared to those of age-matched controls for each subregion. Main findings were diffuse striatal as well as cortical motor CBF increase during ictal exams in generalized periodic discharges with motor manifestations (Subacute Sclerosing Panencephalitis) and focal CBF increase in corresponding cortical-striatal-thalamic subdivisions in lateralized periodic discharges with or without motor manifestations (stroke-like events and asymmetrical epileptic spasms) with straight topographical correlation with the EEG focus. For inter-ictal exams, patients with epileptic spasms disclosed CBF changes in corresponding cortical-striatal-thalamic subdivisions (absolute-CBF decrease and relative-CBF increase) more frequently when compared to the group of drug-resistant focal epilepsies, and not related to Vigabatrin treatment. Our results suggest that corresponding cortical-striatal-thalamic circuits are involved in periodic discharges with and without motor manifestations, including epileptic spasms, opening new insights in their pathophysiology and new therapeutical perspectives. Based on these findings we propose a model for the generation of periodic discharges and of epileptic spasms combining existing pathophysiological models of cortical-striatal-thalamic network dynamics.

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“…It is reasonably considered that hyperperfusion in the globus pallidus observed on ASL may compensate for energy depletion. In the acute phase of Leigh's encephalopathy, a mitochondrial disorder with progressive neurodegeneration, hyperperfusion observed on ASL has also been reported in the basal ganglia [7] , for which a compensatory mechanism has also been postulated.…”

Section: Discussionmentioning

confidence: 90%

Multimodal MR imaging in acute exacerbation of methylmalonic acidemia

Saito

Murofushi

Kimura

et al. 2023

Radiology Case Reports

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Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic disorders

Cited by 7 publications

References 17 publications

Convergence-Retraction Nystagmus and Ophthalmoplegia as the Presenting Sign of Leigh Syndrome in a Young Boy

Convergence-Retraction Nystagmus and Ophthalmoplegia as the Presenting Sign of Leigh Syndrome in a Young Boy

Periodic electroencephalographic discharges and epileptic spasms involve cortico-striatal-thalamic loops on Arterial Spin Labeling Magnetic Resonance Imaging

Multimodal MR imaging in acute exacerbation of methylmalonic acidemia

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