Stroke mimics add to the phenotypic spectrum of GLUT1 deficiency syndrome

Braakman, Hilde M. H.; Engelen, Marc; Nicolai, Joost; Willemsen, M.A.A.P.

doi:10.1136/jnnp-2017-316861

Cited by 8 publications

(7 citation statements)

References 5 publications

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“…Atypical manifestations: Rare features described in Glut1DS include writer's cramp, intermittent ataxia, total body paralysis, Parkinsonism, and nocturnal painful muscle cramps in the legs 32 . Alternating hemiplegia of childhood, hemiplegic migraine, cyclic vomiting, and stroke‐like episodes with paroxysmal hemiparesis, dysarthria, or aphasia have been described in individual patients 23,35,36 . Other rare features include hemolytic anemia associated with PED, hepatosplenomegaly, periventricular calcifications, brain atrophy, pseudohyperkalemia, cataracts, and retinal dysfunction 18,37 …”

Section: State Of the Art In Glut1ds And Consensus Recommendationsmentioning

confidence: 99%

Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group

et al. 2020

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Glut1 deficiency syndrome (Glut1DS) is a brain energy failure syndrome caused by impaired glucose transport across brain tissue barriers. Glucose diffusion across tissue barriers is facilitated by a family of proteins including glucose transporter type 1 (Glut1). Patients are treated effectively with ketogenic diet therapies (KDT) that provide a supplemental fuel, namely ketone bodies, for brain energy metabolism. The increasing complexity of Glut1DS, since its original description in 1991, now demands an international consensus statement regarding diagnosis and treatment. International experts (n = 23) developed a consensus statement utilizing their collective professional experience, responses to a standardized questionnaire, and serial discussions of wide‐ranging issues related to Glut1DS. Key clinical features signaling the onset of Glut1DS are eye‐head movement abnormalities, seizures, neurodevelopmental impairment, deceleration of head growth, and movement disorders. Diagnosis is confirmed by the presence of these clinical signs, hypoglycorrhachia documented by lumbar puncture, and genetic analysis showing pathogenic SLC2A1 variants. KDT represent standard choices with Glut1DS‐specific recommendations regarding duration, composition, and management. Ongoing research has identified future interventions to restore Glut1 protein content and function. Clinical manifestations are influenced by patient age, genetic complexity, and novel therapeutic interventions. All clinical phenotypes will benefit from a better understanding of Glut1DS natural history throughout the life cycle and from improved guidelines facilitating early diagnosis and prompt treatment. Often, the presenting seizures are treated initially with antiseizure drugs before the cause of the epilepsy is ascertained and appropriate KDT are initiated. Initial drug treatment fails to treat the underlying metabolic disturbance during early brain development, contributing to the long‐term disease burden. Impaired development of the brain microvasculature is one such complication of delayed Glut1DS treatment in the postnatal period. This international consensus statement should facilitate prompt diagnosis and guide best standard of care for Glut1DS throughout the life cycle.

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Section: State Of the Art In Glut1ds And Consensus Recommendationsmentioning

confidence: 99%

Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group

et al. 2020

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“…It indicated that genetic analysis for SLC2A1 should be taken into consideration for pediatric-onset HSP patients, especially those without pathogenic variants in HPS gene (12). Paroxysmal eye-head movements, paroxysmal hemiparesis, dysarthria, or aphasia also occur in Glut1-DS patients, which would lead to diagnostic errors (13,14). Brain MRI images of most Glut1-DS patients are normal.…”

Section: Discussionmentioning

confidence: 99%

“…Clinicians should be aware of this atypical presentation of Glut1-DS in order to avoid misdiagnosis. A complete understanding of Glut1-DS will help to facilitate its diagnosis as well as its effective treatment with KD (13).…”

Section: Discussionmentioning

confidence: 99%

A Challenging Diagnosis of Atypical Glut1-DS: A Case Report and Literature Review

Jin

et al. 2021

Front. Neurol.

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Glucose transporter type 1 deficiency syndrome (Glut1-DS) is a rare neurometabolic disorder caused by mutations of the SLC2A1 gene. Paroxysmal exercise-induced dyskinesia is regarded as a representative symptom of Glut1-DS. Paroxysmal non-kinesigenic dyskinesia is usually caused by aberrations of the MR1 and KCNMA1 genes, but it also appears in Glut1-DS. We herein document a patient with Glut1-DS who suffered first from paroxysmal exercise-induced dyskinesia and subsequently paroxysmal non-kinesigenic dyskinesia and experienced a recent worsening of symptoms accompanied with a low fever. The lumbar puncture result showed a decreased glucose concentration and increased white blood cell (WBC) count in cerebrospinal fluid (CSF). The exacerbated symptoms were initially suspected to be caused by intracranial infection due to a mild fever of <38.0°C, decreased CSF glucose, and increased CSF WBC count. However, the second lumbar puncture result indicated a decreased glucose concentration and normal WBC count in CSF with no anti-infective agents, and the patient's symptoms were not relieved apparently. The continuous low glucose concentration attracted our attention, and gene analysis was performed. According to the gene analysis result, the patient was diagnosed with Glut1-DS finally. This case indicates that the complex paroxysmal dyskinesia in Glut1-DS may be confusing and pose challenges for accurate diagnosis. Except intracranial infection, Glut1-DS should be considered as a differential diagnosis upon detection of a low CSF glucose concentration and dyskinesia. The case presented here may encourage clinicians to be mindful of this atypical manifestation of Glut1-DS in order to avoid misdiagnosis.

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“…Заболевание вызвано мутациями в гене SLC2A, который кодирует белок-транспортер глюкозы I типа, отвечающий за перенос глюкозы через гематоэнцефалический барьер [4]. В результате таких мутаций функция белка GLUT1 нарушается, тем самым полностью блокируется или значительно снижается поступление в клетки головного мозга главного источника энергии -глюкозы, необходимой для полноценного энергетического обмена в тканях мозга [14].…”

Section: Ch I Ld Neurology R U S S I a N J O U R N A L O Funclassified

“…Главным источником энергии для организма служит глюкоза [2]. В здоровом организме белок GLUT1 переносит глюкозу в необходимых количествах через гематоэнцефалический барьер, доставляя ее в мозг [4]. При синдроме дефицита GLUT1 этот процесс нарушен.…”

Section: Ch I Ld Neurology R U S S I a N J O U R N A L O Funclassified

Glucose transporter deficienc y syndrome type 1: a case report

Кулиш

Котов

Mukhina

et al. 2019

Rus. ž. det. nevrol.

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The authors present a unique clinical observation of the case of a hereditary deficiency of a type 1 glucose transporter, also called de Vivo disease. The type 1 glucose transporter deficiency syndrome (OMIM: 606777, ORPHA: 71277) is an extremely rare genetic disease associated with mutations in the SCL2A gene encoding the transfer of glucose across the blood-brain barrier. The clinical case, given in the article, replenishes the piggy bank of genetically verified glucose transport disruption syndromes leading to the development of polymorphic neurological disorders. The syndrome is most often inherited by an autosomal dominant pathway, but rare cases of autosomal recessive transmission are known. About 500 clinical cases of the present syndrome are described, although, according to various authors, the number of clinically verified cases not confirmed by genetic verification is much higher. In addition to the given data of the clinical course of the disease, detailed results of the genetic interpretation of the hereditary syndrome are given, the modern method of pathogenetic therapy is considered – the ketogenic diet.

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Stroke mimics add to the phenotypic spectrum of GLUT1 deficiency syndrome

Cited by 8 publications

References 5 publications

Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group

Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group

A Challenging Diagnosis of Atypical Glut1-DS: A Case Report and Literature Review

Glucose transporter deficienc y syndrome type 1: a case report

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