Atypical clinical course in two patients with GNB1 variants who developed acute encephalopathy

Tsuji, Megumi; Ikeda, Azusa; Tsuyusaki, Yu; Iai, Mizue; Kurosawa, Kenji; Kosaki, Kenjiro; Goto, Tomohide

doi:10.1016/j.braindev.2023.06.005

Cited by 3 publications

(1 citation statement)

References 13 publications

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“…GNB1 encephalopathy (GNB1-E) is a rare genetic disease caused by pathogenic variants in the G Protein Subunit Beta 1 (GNB1) gene. Only around 68 cases of this disease have been reported to this day worldwide [1][2][3][4]. Characterizing symptoms for GNB1-E are developmental delay, intellectual disability, and various neurological symptoms.…”

Section: Introductionmentioning

confidence: 99%

GNB1 Encephalopathy: Clinical Case Report and Literature Review

Nasvytis,

Čiauškaitė,

Jurkevičienė

2024

Medicina

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GNB1 encephalopathy is a rare genetic disease caused by pathogenic variants in the G Protein Subunit Beta 1 (GNB1) gene, with only around 68 cases documented worldwide. Although most cases had been caused by de novo germline mutations, in this case, the pathogenic variant was inherited from patient’s mother, indicating an autosomal dominant inheritance pattern. The patient presented at 25 years of age with mild developmental delay and cognitive impairment, prominent generalized dystonia, and horizontal nystagmus which are all characterizing symptoms of GNB1 encephalopathy. Electroencephalography (EEG) showed no epileptiform patterns, and magnetic resonance imaging (MRI) revealed hypointensities in globus pallidus and dentate nucleus areas. The main theory for GNB1 encephalopathy pathogenesis is neuronal hyperexcitability caused by impaired ion channel regulation. Due to low specificity of symptoms, diagnosis relies on genetic testing. As there are no standardized GNB1 encephalopathy treatment guidelines, evaluation of different treatment options is based on anecdotal cases. Reviewing different treatment options, deep brain stimulation and intrathecal baclofen pump, as well as some other medications still in preclinical trials, seem to be the most promising.

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Section: Introductionmentioning

confidence: 99%

GNB1 Encephalopathy: Clinical Case Report and Literature Review

Nasvytis,

Čiauškaitė,

Jurkevičienė

2024

Medicina

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Health problems in children with profound intellectual and multiple disabilities: a scoping review

Zandbelt,

Gijssel,

Coppens

et al. 2024

Eur J Pediatr

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This study aims to investigate and categorize health problems in children with profound intellectual and multiple disabilities (PIMD). We conducted a scoping review in five electronic databases (PubMed, Embase, Medline, PsychInfo, and Web of Science), including peer-reviewed studies that describe health problems in children with PIMD. Articles on PIMD were included when mentioning children with severe or profound intellectual disability (IQ/DQ < 35 or developmental age < 24 months) AND severe/profound motor impairment (GMFCS IV/V, non-ambulatory/not walking without support or gross motor function measure (GMFM-66) score < 40). Health problems were divided into 11 different categories based on literature and the experiences of the authors. Both health problems reported by caregivers and diagnosed by health professionals were included. A data extraction tool was developed using the JBI checklist recommendations. The review included 22 studies, with a total of 894 patients across all the articles. The most reported health problems in children with PIMD were epilepsy, respiratory infections, feeding difficulties, GERD, scoliosis, and visual impairment. There was no uniformity in the definition and terminology of PIMD. Conclusion: The studies in this review covered a wide range of health problems, with only a few focusing on the entire range. Given the lack of knowledge about children with PIMD, further research is required on the presence of health problems, the age of onset, and appropriate treatments. Awareness, early detection, and treatment of the health problems could optimize the medical care and quality of life of children with PIMD. What is Known:• Children with profound intellectual and multiple disabilities (PIMD) have severe intellectual and motor disabilities and various comorbidities.• Children often visit the hospital and provided care is complex and fragmented. What is New:• Children with PIMD develop a wide range of health problems; most reported are epilepsy, respiratory infections, and feeding difficulties.• Little is known about treatment of health problems in children with PIMD.

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Multiple drugs

2023

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Atypical clinical course in two patients with GNB1 variants who developed acute encephalopathy

Cited by 3 publications

References 13 publications

GNB1 Encephalopathy: Clinical Case Report and Literature Review

GNB1 Encephalopathy: Clinical Case Report and Literature Review

Health problems in children with profound intellectual and multiple disabilities: a scoping review

Multiple drugs

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