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Yamashita F., Akamine S., Chong P.F., Maeda K., Kawakami S., Lee S., Ishimura M., Murayama K., Sakai Y., Kira R.
BMC Pediatrics 25 ( 1 ) 259 2025年12月
記述言語：英語 掲載種別：研究論文（学術雑誌） 出版者・発行元：BMC Pediatrics
Background: Methylmalonic acidemia is a rare autosomal recessive disorder of propionate catabolism characterized by the accumulation of propionic acid and methylmalonic acid caused by methylmalonyl-CoA mutase deficiency. Clinical presentations range from acute deterioration in the neonatal period to later onset with a heterogeneous clinical course. Metabolite accumulation results in systemic involvement, affecting the nervous, gastrointestinal, and renal system functions and causing cardiomyopathy. Bone marrow dysfunction manifesting as neutropenia and anemia is a common hematological finding. Although rare, three cases of secondary hemophagocytosis were documented. Case presentation: An 18-year-old male patient diagnosed with methylmalonic acidemia presented with vomiting and altered mental status. He had a medical history of presumably hemophagocytic lymphohistiocytosis (HLH) at the age of 17 months. Physical examination, laboratory tests, and bone marrow aspiration results met the HLH-2004 diagnostic criteria, confirming a recurrent HLH. Although he recovered after intensive treatment, his cognitive function declined. Retrospective analysis revealed higher serum levels of ferritin during acute decompensations compared with nonattack periods. Correlation analysis revealed a strong relationship between serum ferritin and propionylcarnitine, one of the major propionyl-CoA-derived metabolites. Conclusions: HLH is a rare and underrecognized hematologic emergency in methylmalonic acidemia, and its early diagnosis and treatment are critical. Serum ferritin may be a useful clinical biomarker in the diagnosis of HLH-associated attacks in methylmalonic acidemia.
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Yuan J.H., Cheng X., Matsuura E., Higuchi Y., Ando M., Hashiguchi A., Yoshimura A., Nakachi R., Mine J., Taketani T., Maeda K., Kawakami S., Kira R., Tanaka S., Kanai K., Dib-Hajj F., Dib-Hajj S.D., Waxman S.G., Takashima H.
Journal of the Peripheral Nervous System 28 ( 4 ) 597 - 607 2023年12月
記述言語：英語 掲載種別：研究論文（学術雑誌） 出版者・発行元：Journal of the Peripheral Nervous System
Background and Aims: Voltage-gated sodium channel Nav1.7, encoded by the SCN9A gene, has been linked to diverse painful peripheral neuropathies, represented by the inherited erythromelalgia (EM) and paroxysmal extreme pain disorder (PEPD). The aim of this study was to determine the genetic etiology of patients experiencing neuropathic pain, and shed light on the underlying pathogenesis. Methods: We enrolled eight patients presenting with early-onset painful peripheral neuropathies, consisting of six cases exhibiting EM/EM-like disorders and two cases clinically diagnosed with PEPD. We conducted a gene-panel sequencing targeting 18 genes associated with hereditary sensory and/or autonomic neuropathy. We introduced novel SCN9A mutation (F1624S) into a GFP-2A-Nav1.7rNS plasmid, and the constructs were then transiently transfected into HEK293 cells. We characterized both wild-type and F1624S Nav1.7 channels using an automated high-throughput patch-clamp system. Results: From two patients displaying EM-like/EM phenotypes, we identified two SCN9A mutations, I136V and P1308L. Among two patients diagnosed with PEPD, we found two additional mutations in SCN9A, F1624S (novel) and A1632E. Patch-clamp analysis of Nav1.7-F1624S revealed depolarizing shifts in both steady-state fast inactivation (17.4 mV, p <.001) and slow inactivation (5.5 mV, p <.001), but no effect on channel activation was observed. Interpretation: Clinical features observed in our patients broaden the phenotypic spectrum of SCN9A-related pain disorders, and the electrophysiological analysis enriches the understanding of genotype–phenotype association caused by Nav1.7 gain-of-function mutations.
DOI： 10.1111/jns.12590
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A case of infantile epileptic spasms syndrome and autism spectrum disorder with an RFX3 mutation 査読あり
Torio M., Maeda K., Akamine S., Kawakami S., Matsubara Y., Miya F., Kato M., Kira R.
Seizure 112 11 - 14 2023年11月
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Case Report: Acute Fulminant Cerebral Edema With Perivascular Abnormalities Related to Kawasaki Disease.
Maeda K, Chong PF, Akamine S, Yamashita F, Morooka Y, Mori H, Lee S, Mizuno Y, Kira R
Frontiers in pediatrics 9 732110 2021年
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Isolated cranial neuritis of the oculomotor nerve: Expanding the MOG phenotype?
Kawakami S, Akamine S, Chong PF, Yamashita F, Maeda K, Takahashi T, Kira R
Multiple sclerosis and related disorders 41 102040 2020年6月