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Cerebral Ultrasonography of Cytotoxic Edema in a Newborn With a Mitochondrial Disorder

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A preterm infant born at 34 weeks’ gestation weighing 1500 g due to intrauterine growth restriction (IUGR) presented with persistent hyperlacticaemia. Clinical evolution was favorable in the first weeks, and the early cerebral ultrasound (cUS) did not show abnormalities. On a routine blood test at age 6 days, severe hyperlacticaemia (63 mg/dL [to convert to millimoles per liter, multiply by 0.111]) was detected. Findings of physical and neurological examination were unremarkable, and hyperlacticaemia was initially attributed to a transient disorder common in newborns with IUGR. Nevertheless, moderate hyperlacticaemia (27 to 36 mg/dL) without acidosis persisted. Sepsis, heart failure, and pharmacological causes were ruled out, and a metabolic workup was conducted. Urine analysis showed unspecific high levels of Krebs cycle metabolites, reported as possibly transient, and plasmatic amino acids showed a mild alanine elevation. A second cUS performed at age 19 days showed symmetrical increased echogenicity of the subthalamic nuclei. Magnetic resonance imaging (MRI; MR 3 Tesla; Philips Ingenia) was subsequently performed, which showed mild restriction of the subthalamic nuclei and colliculi in diffusion-weighted images with normal T1-weighted and T2-weighted images (Figure 1). Considering analytical and radiological abnormalities, a mitochondrial disease was suspected, and appropriate cofactors were initiated. Follow-up cUS confirmed persistent increased echogenicity of the subthalamic nuclei, colliculi, and globi pallidi. A second MRI was performed at 42 days, showing at this moment clear abnormal signal intensity of these areas on T1-weighted and T2-weighted images (Figure 2) as well as a more obvious restriction diffusion, indicating cytotoxic edema without lactate peak in the magnetic resonance spectroscopy. Genetic study confirmed a mitochondrial transfer RNA translation optimization 1 (MTO1) deficiency. This disease typically displays hypertrophic cardiomyopathy, lactic acidosis, development delay, and high early mortality rates for those with neonatal presentation.1 This patient died at age 8 months following a metabolic decompensation with severe lactic acidosis. Up to then, he showed progression of lactic acidosis and only mild abnormalities in eye gaze and muscle tone.

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Article Information

Corresponding Author: Nuria Carreras, MD, Neonatology Department, Sant Joan de Déu Hospital, Passeig Sant Joan de Déu, 2, Barcelona 08950, Spain (ncarreras@sjdhospitalbarcelona.org).

Published Online: May 9, 2022. doi:10.1001/jamaneurol.2022.0957

Conflict of Interest Disclosures: None reported.

Additional Contributions: We thank the parents of the patient for granting permission to publish this information. We also thank the radiological and pediatric neurology teams for their involvement in the care of the patient.

References
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O’Byrne  JJ , Tarailo-Graovac  M , Ghani  A ,  et al.  The genotypic and phenotypic spectrum of MTO1 deficiency.   Mol Genet Metab. 2018;123(1):28-42. doi:10.1016/j.ymgme.2017.11.003PubMedGoogle ScholarCrossref
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Gropman  AL .  Neuroimaging in mitochondrial disorders.   Neurotherapeutics. 2013;10(2):273-285. doi:10.1007/s13311-012-0161-6PubMedGoogle ScholarCrossref
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Leijser  LM , de Vries  LS , Rutherford  MA ,  et al.  Cranial ultrasound in metabolic disorders presenting in the neonatal period: characteristic features and comparison with MR imaging.   AJNR Am J Neuroradiol. 2007;28(7):1223-1231. doi:10.3174/ajnr.A0553PubMedGoogle ScholarCrossref
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Dinan  D , Daneman  A , Guimaraes  CV , Chauvin  NA , Victoria  T , Epelman  M .  Easily overlooked sonographic findings in the evaluation of neonatal encephalopathy: lessons learned from magnetic resonance imaging.   Semin Ultrasound CT MR. 2014;35(6):627-651. doi:10.1053/j.sult.2014.07.003PubMedGoogle ScholarCrossref
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