Leukoencephalopathy in infancy with glucose transporter type
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The case of this study is the second male child of healthy non-consanguineous parents, with a no significant family history. Pregnancy and delivery at 40 weeks gestation were uneventful, with a birth weight of 3220 g, birth height of 50 cm, and head circumference of 34 cm. He suffered from bilateral lower limb myoclonic jerks at 2 months of age.

Electroencephalogram (EEG) showed generalized epileptiform activity. Brain (MRI) displayed abnormal confluent symmetric T1 fluid-attenuated inversion recovery (FLAIR) low-signal, T2-weighted hypersignal, T2 FLAIR low-signal in both frontal (predominance) and occipital lobes involving subcortical and periventricular white matters. These findings are consistent with hypomyelinating-leukoencephalopathy, which can be distinguished from the normal brain MRI of a similar age group. Examination showed microcephaly with head circumference of 38.1 cm at the age of 4 months. Patient had poor visual fixing and truncal hypotonia with mild head lag. The muscle power was normal with mild left limb clumsiness. The presence of Babinski sign indicated plantar flexion.

Extensive neurometabolic and genetic testing revealed low cerebrospinal fluid (CSF) glucose of 24 mg/dL, low CSF/serum glucose ratio of 0.25, and normal CSF lactate of 9.4 mg/dL. He was provisionally diagnosed with glucose transporter type 1 (GLUT1) deficiency syndrome, which was confirmed by finding a pathogenic de novo heterozygous mutation in SLC2A1. Medium-chain triglyceride ketogenic diet therapy was started that consisted of a 2:1 lipid/nonlipid ratio with a dramatic seizure control within 1 week.

Follow-up brain MRI at the age of 8 months revealed significant resolution of the previous white matter lesions with age-appropriate myelination. GLUT1 deficiency syndrome is a congenital metabolic disorder characterized by refractory seizures with early infantile onset, neurodevelopmental delay, movement disorders and acquired microcephaly. GLUT1 deficiency syndrome should be considered as a cause of leukoencephalopathy in early infancy. Early diagnosis and commencement of the ketogenic diet will significantly improve neurocognitive outcome.

source: https://www.pediatr-neonatol.com/article/S1875-9572(20)30138-8/fulltext?rss=yes