A case of infantile Tay-Sachs disease with late onset spasms

Yamamoto, Naohiro; Kuki, Ichiro; Nagase, Shizuka; Inoue, Takeshi; Nukui, Megumi; Okazaki, Shin; Furuichi, Yasuko; Adachi, Kaori; Nanba, Eiji; Sakai, Norio; Kawawaki, Hisashi

doi:10.1016/j.braindev.2020.12.016

Cited by 5 publications

(3 citation statements)

References 9 publications

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“…Genetic disorders include MECP2 gene duplication 22 and CASK gene mutation 6,23 . Metabolic syndrome has also been reported 6,24 …”

Section: Discussionmentioning

confidence: 99%

“…We performed preoperative and postoperative assessments of intellectual disability and motor dysfunction. Intellectual disability was classified based on the intelligence quotient as most severe [-19], severe [20][21][22][23][24][25][26][27][28][29][30][31][32][33][34], moderate [35][36][37][38][39][40][41][42][43][44][45][46][47][48][49], mild [50-69], and borderline [70-79].…”

Section: Key Pointsmentioning

confidence: 99%

“…6,23 Metabolic syndrome has also been reported. 6,24 Metsahonkala et al 11 performed epilepsy surgery in six (five with FCD; one with unknown) out of 17 patients with LOES. Five sublobar resections and one multilobar resection led to seizure-free status in four patients and persistent FS in two.…”

Section: Hidden Potential Focal Onset Loes In the Ne Groupmentioning

confidence: 99%

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Comparing late‐onset epileptic spasm outcomes after corpus callosotomy and subsequent disconnection surgery between post‐encephalitis/encephalopathy and non‐encephalitis/encephalopathy

et al. 2023

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Objective: We aimed to analyze the efficiency of corpus callosotomy (CC) and subsequent disconnection surgeries in patients with late-onset epileptic spasms (LOES) by comparing post-encephalitis/encephalopathy (PE) and nonencephalitis/encephalopathy (NE). We hypothesized these surgeries can control potential focal onset epileptic spasms (ES) in the NE group but not in the PE group. Methods:We retrospectively included 23 patients (12 with PE and 11 with NE) who initially underwent CC and subsequent disconnection surgeries (five NE).We compared the clinical courses, seizure types, MRI, video-EEG, epilepsy surgery, and seizure outcomes between the two groups. Results:The median age of LOES onset in the PE group was 2.8 (range 1.0-10.1 years) and 2.9 years (range 1.1-12.6) in the NE group. Bilateral MRI abnormalities were observed in both groups (PE, n = 12; NE, n = 3; P < 0.05). The PE group presented ES alone (n = 2), ES + focal seizures (FS) (n = 3), ES + generalized seizures (GS) (n = 3), and ES + FS + GS (n = 4) in addition to stimulusinduced startle seizures (SS) (n = 8) (mean 3.1 seizure types/patient). The NE group presented ES alone (n = 1), ES + FS (n = 2), and ES + FS + GS (n = 8) (mean 2.7 seizure types/patient). In the PE group, CC stopped ES (n = 1) and SS (n = 1) and achieved <50% SS (n = 3). In the NE group, CC achieved immediate ES-free status (n = 2) and < 50% ES (n = 1), and additional disconnection surgeries subsided all seizure types (n = 3) based on lateralized interictal/ictal EEG findings. LOES was significantly remitted by surgery in the NE group (6/11[55%]) compared with the PE group (1/12 [8%]) (P < 0.05).Significance: LOES is a drug-resistant, focal/generalized/unknown onset ES.

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“…Genetic disorders include MECP2 gene duplication 22 and CASK gene mutation 6,23 . Metabolic syndrome has also been reported 6,24 …”

Section: Discussionmentioning

confidence: 99%