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Rev Neurol (Paris). 2019 Oct;175(9):564-567. doi: 10.1016/j.neurol.2018.12.004. Epub 2019 May 1.

Life-threatening lactic acidosis occurring in adults with mitochondrial disorders.

Author information

1
Service de neurologie, centre de référence de pathologie neuromusculaire Nord/Est/Île-de-France, hôpital Raymond-Poincaré, AP-HP, 104, boulevard Raymond-Poincaré, 92380 Garches.
2
Centre de référence de pathologie neuromusculaire Nord/Est/Île-de-France, institut de myologie, Groupe hospitalier Pitié-Salpêtrière, AP-HP, 75013 Paris, France.
3
Service de neurologie, centre hospitalier René-Dubos, 95300 Pontoise, France.
4
UF cardiogénétique et myogénétique moléculaire et cellulaire, groupe hospitalier Pitié-Salpêtrière, AP-HP, 75013 Paris, France.
5
Service de réanimation, hôpital Sainte-Anne, AP-HP, 75014 Paris, France.
6
Inserm U 1127, CNRS UMR 7225, Sorbonne universités, UPMC université Paris 06 UMR S 1127, institut du cerveau et de la moelle épinière, ICM, 75013 Paris, France; Département de génétique, groupement hospitalier Pitié-Salpêtrière-Charles Foix, AP-HP, 75013 Paris, France; GRC UPMC Neurométabolique, groupement hospitalier Pitié-Salpêtrière-Charles Foix, 75013 Paris, France.
7
Service de réanimation polyvalente, centre médico-chirurgical de l'Europe, 78560 Le Port Marly, France.
8
Laboratoire de Biochimie, hôpital de Bicêtre, AP-HP, 94270 Le Kremlin-Bicêtre, France.
9
Inserm, institut Cochin, U1016, CNRS UMR 8104, 75014 Paris, France.
10
Service de neurologie, centre de référence de pathologie neuromusculaire Nord/Est/Île-de-France, hôpital Raymond-Poincaré, AP-HP, 104, boulevard Raymond-Poincaré, 92380 Garches. Electronic address: pascal.laforet@aphp.fr.

Abstract

Although relatively common in children, severe acute lactic acidosis is rare in adults with mitochondrial myopathies. We report here three cases, aged 27, 32 and 32 years, who developed life-threatening metabolic crisis with severe lactic acidosis, requiring hospitalisation in intensive care unit. Plasma lactates were elevated 10 to 15 fold normal values, necessitating extra-renal dialysis. By contrast CK levels were moderately increased (3 to 5N). No triggering factor was identified, but retrospectively all patients reported long-lasting mild muscle fatigability and weakness before their acute metabolic crisis. All of them recovered after prolonged intensive care but resting lactate levels remained elevated. Muscle biopsy showed ragged-red and COX-negative fibers in two patients and mild lipidosis in the third one. Heteroplasmic pathogenic point mutations were detected in MT-TL1 (m.3280G>A;m.3258C>T) and MT-TK (m.8363A>G). Life-threatening lactic acidosis may thus be a major inaugural clinical manifestation in adults with mitochondrial myopathies. Prolonged intensive care may lead to a dramatic and sustained improvement and is mandatory in such cases.

KEYWORDS:

Critical care; Lactic acidosis; Mitochondrial disorders; Muscle disease; Status epilepticus

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