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. 2012 Jun;69(6):718-22.
doi: 10.1001/archneurol.2011.1048.

Novel infantile-onset leukoencephalopathy with high lactate level and slow improvement

Marjan E Steenweg  1 , Adeline Vanderver, Berten Ceulemans, Prab Prabhakar, Luc Régal, Aviva Fattal-Valevski, Lawrence Richer, Barbara Goeggel Simonetti, Frederik Barkhof, Richard J T Rodenburg, Petra J W Pouwels, Marjo S van der Knaap
Affiliations

Novel infantile-onset leukoencephalopathy with high lactate level and slow improvement

Marjan E Steenweg et al. Arch Neurol. 2012 Jun.

Abstract

Objective: To describe a novel pattern of magnetic resonance imaging (MRI) abnormalities as well as the associated clinical and laboratory findings.

Design: The MRIs of more than 3000 patients with an unclassified leukoencephalopathy were systematically reviewed.Clinical and laboratory data were retrospectively collected.

Setting: University hospital.

Patients: Seven patients (3 male) shared similar MRI abnormalities and clinical features.

Main outcome measures: Pattern of MRI abnormalities and clinical and laboratory findings.

Results: The MRIs showed signal abnormalities of the deep cerebral white matter, corpus callosum, thalamus, basal ganglia,brainstem, and cerebellar white matter between the ages of 9 months and 2 years. On follow-up, abnormalities gradually improved. Clinical regression occurred in the second half-year of life with spasticity and loss of milestones.From the second year on, clinical improvement occurred.So far, no second episode of regression has happened.Lactate levels were elevated during clinical regression.

Conclusion: These patients represent a single novel leukoencephalopathy,probably caused by a mitochondrial defect.

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Figures

Figure 1
Figure 1
Magnetic resonance imaging of patient 6. At age 11 months, T2 signal abnormalities are present in the deep cerebral white matter, thalamus, basal ganglia, brainstem, and cerebellar white matter (A–D). Restricted diffusion is indicated by high signal on diffusion-weighted images (E) and low signal on apparent diffusion coefficient maps (F). At age 3 years (G–I), the abnormalities have improved substantially.
Figure 2
Figure 2
Axial T2-weighted images of patient 1. At age 2 years (A–C), abnormalities are seen in the deep cerebral white matter, thalamus, and brainstem. At age 10 years (D–F), the abnormalities have improved. Mild T2 hyperintensity of the putamen and caudate nucleus persists.
Figure 3
Figure 3
Short echo time proton spectroscopy of the deep parietal white matter in patient 1. At age 2 years (A), an elevated lactate (Lac) level is seen; the N-acetylaspartate (NAA) level is decreased. At age 10 years (B), lactate is not detectable. The NAA and choline-containing (Cho) compounds are marginally decreased. The myoinositol (Ins) level is increased. Cre indicates creatine.
See this image and copyright information in PMC

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