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Ohtahara, syndrome
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(Early childhood epileptic encephalopathy with "bursts-suppression", EIEE)
Annual incidence: 1/50,000 (UK) to 1/100,000 (Japan).
Early childhood epileptic encephalopathy. The disease begins in the first weeks of life: tonic spasms with bursts suppression on the EEG, sometimes partial motor crises. This syndrome (EIEE: acronym for Early Infantile Epileptic Encephalopathy) has a great genetic heterogeneity:
- EIEE1: mutation of the ARX gene (Xp21.3) (initial case report) [MIM 308 350]
- EIEE2: mutation of the CDKL5 gene [MIM 300 672]
- EIEE3: mutation of the gene SLC25A22 (11p15.5) [MIM 609 304]
- EIEE4: mutation of the STXBP1 gene (9q34.1) [MIM 612 164]
- EIEE5: mutation of the SPTAN1 gene [MIM 613 477]
- EIEE6: mutation of the Gene SCN1A [MIM 607 208] or Dravet syndrome (see this term),
- EIEE7: mutation of the KCNQ2 gene [MIM 613 720]
- EIEE8: mutation of the ARHGEF9 gene [MIM 300 607]
- EIEE9: mutation of the PCDH19 gene [MIM 300 088]
- EIEE10: mutation of the PNKP gene [MIM 613 402]
- EIEE11: mutation of the SCN2A gene [MIM 613 721]
- EIEE12: mutation of the PLCB1 gene [MIM 613 722]
- EIEE13: mutation of the SCN8A gene [MIM 614 558]
- EIEE14: Mutation of the KCNT1 gene [MIM 614 959]
- EIEE15: mutation of the ST3GAL3 gene [MIM 615 006]
- EIEE16 : mutation of the TBC1D24 gene [MIM 615 338]
- EIEE17 : mutation of the GNAO1 gene [MIM 615 473] or GNAO1 encephalopathy
- EIEE18: mutation of the SZT2 gene [MIM 615 476]
- EIEE19: mutation of the GAGRA1 gene [MIM 615 744]
- EIEE20: mutation of the PIGA gene [MIM 300 868]
- EIEE21: mutation of the NECAP1 gene [MIM 615 833]
- EIEE22: mutation of the SLC35A2 gene [MIM 300 896]
- EIEE23: mutation of the DOCK7 gene [MIM 615 859]
- EIEE24: mutation of the HCN1 gene [MIM 615 871]
- EIEE25: mutation of the SLC35A5 gene [MIM 615 905]
- EIEE26: mutation of the KCNB1 gene [MIM 616 056]
- EIEE27: mutation of the GRIN2B gene [MIM 616 139]
- EIEE28: mutation of the WWOX gene [MIM 616 211]
- EIEE29: Mutation of the AARS gene [MIM 619 339]
- EIEE30: mutation of the SIK1 gene [MIM 616 341]
- EIEE31: mutation of the DNM1 gene [MIM 616 346]
- EIEE32: Mutation of the KCNA2 gene [MIM 616 366]
- EIEE33: mutation of the Gene EEF1A2 [MIM 616 645]
- EIEE34: mutation of the SLC12A5 gene [MIM 300 672]
- EIEE35: mutation of the ITPA gene [MIM 616 647]
- EIEE36: mutation of the ALG13 gene [MIM 300 884]
- EIEE37: mutation of the FRRS1L gene [MIM 616 981]
- EIEE38: mutation of the ARV1 gene [MIM 617 020]
- EIEE39: mutation of the SLC25A12 gene [MIM 612 949]
- EIEE40: mutation of the GUF1 gene [MIM 617 065]
- EIEE41: mutation of the SLC1A2 gene [MIM 617 105]
- EIEE42: mutation of the CACNA1A gene [MIM 617 106]
- EIEE43: mutation of the GABRB3 gene [MIM 617 113]
- EIEE44: mutation of the UBA5 gene [MIM 617 132]
- EIEE45: mutation of the GENER1 gene [MIM 617 153]
- EIEE46: mutation of the GRIN2D gene [MIM 617 7162]
- EIEE47: mutation of the FGF12 gene [MIM 617 166]
- EIEE48: mutation of the AP3B2 gene [MIM 617 276]
- EIEE49: mutation of the DENND5A gene [MIM 617 281]
- EIEE50: mutation of the CAD gene [MIM 616 457]
- EIEE51: mutation of the MDH2 gene [MIM 617 339]
- EIEE52: mutation of the SCN1B gene [MIM 617 350]
- EIEE53: mutation of the SYNJ1 gene [MIM 617 389]
- EIEE54: mutation of the HNRNPU gene [MIM 617 391]
- EIEE55: mutation of the PIGP gene [MIM 617 599]
- EIEE56: mutation of the YWHAG gene [MIM 617 665]
- EIEE57: mutation of the KCNT2 gene [MIM 617 771]
- EIEE58: mutation of the NTRK2 gene [MIM 617 830]
- EIEE59: mutation of the GABBR2 gene [MIM 617 904]
- EIEE60: mutation of the CNPY3 gene [MIM 617 929]
- EIEE61: mutation of the ADAM22 gene [MIM 617 933]
- EIEE62: mutation of the SCN3A gene [MIM 617 938]
- EIEE63: mutation of the CPLX1 gene [MIM 617 976]
- EIEE64: mutation of the RHOBTB2 gene [MIM 618 004]
- EIEE65: mutation of the CYFIP2 gene [MIM 618 008]
- EIEE66: mutation of the PACS2 gene [MIM 618 067]
- EIEE67: mutation of the CUX2 gene [MIM 618 141]
- EIEE68: mutation of the TRAK1 gene [MIM 618 201]
- EIEE69: mutation of the CACNA1E gene [MIM 618 285]
- EIEE70: mutation of the PHACTR1 gene [MIM 618 298]
- EIEE71: mutation of the GLS gene [MIM 618 328]
- EIEE72: mutation of the NEUROD2 gene [MIM 618 374]
- EIEE73: mutation of the RNF13 gene [MIM 618 379]
- EIEE74: mutation of the GABRG2 gene [MIM 618 396]
- EIEE75: mutation of the PARS2 gene [MIM 618 437]
- EIEE76: mutation of the ACTL6B gene [MIM 618 468]
- EIEE77: mutation of the PIGQ gene [MIM 618 548]
- EIEE78: mutation of the GABRA2 gene [MIM 618 557]
- EIEE79: mutation of the GABRA5 gene [MIM 618 559]
- EIEE80: mutation of the PIGB gene [MIM 618 580]
- EIEE81: mutation of the DMXL2 gene [MIM 618 663]
- EIEE82: mutation of the GOT2 gene [MIM 618 721]
Other causes can produce a similar phenotype such as a brain malformation (porencephaly, hemimegaloencephaly) or a metabolic disease: Leigh syndrome, cytochrome c oxidase deficiency, GLUT1 deficiency, glycine encephalopathy (non-ketotic hyperglycinemia).
The prognosis is severe: early death or progression to refractory epilepsy (West syndrome or infantile spasms in 75 % of cases) with significant psychomotor delay and sometimes abnormal movements. In the case of a cerebral anomaly, epilepsy surgery is sometimes performed.
Anesthetic implications:
refractory epilepsy.
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- take advice from the neuropediatrician: efficacy of the diet, which treatment in case of seizure, side effects (urinary lithiases ?) - evaluation: RBC, WC, platelets, electrolytes, urea, creatinine, Ca, Mg, albumin and prealbumin (nutrition). SGOT and SGPT levels are often moderately elevated - avoid prolonged fasting: clear unsweetened fluids allowed - avoid sweetened fluids in the premedication - avoid IV administration of carbohydrates containing IV fluids - check glycemia at induction: ideally 50-80 mg/dL |
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anesthesia |
- propofol: OK for induction but avoid TIVA: source of glycerol, risk of PRIS and pancreatitis - fluids: 0.9 % NaCl (risk of worsening metabolic acidosis) or Ringer lactate (but lactate promotes gluconeogenesis) - avoid corticosteroids: dexamethasone? - avoid carbohydrate-containing medications (glucose, mannitol, glycerol) if possible - the transfusion of labile blood products is a hidden intake of carbohydrates - in case of hypoglycemia, correct with low doses of glucose (0.25g/kg) - monitor glycemia, pH, electrolytes, NaHCO3 |
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postoperative |
- resume the ketogenic diet as soon as possible - check ketone bodies (urine): between 40 and 160 mg/dL or at least 2 ++ |
Ketogenic diet: perianesthetic recommendations
References :
- Bruton J, Crowe S.
Combined general and regional anesthesia in a child with Ohtahara syndrome.
Pediatr Anesth 2008; 18: 1111-2.
- Conover ZR, Talai A, Klockau KS, Ing RJ, Chaterjee D.
Perioperative management of children on ketogenic dietary therapies.
Anesth Analg 2020 ; 131 :1872-82.
Updated: November 2020