This week's SPIN POV: Vitamin B12 deficiency is a rare and treatable cause of developmental regression in infants. Imaging typically reveals generalised atrophy. Complete reversal of the atrophy and neurological recovery is possible post-treatment with cobalamin.

Final take: When MRI whispers “leukodystrophy but not quite LBSL,” listen closer — it might be DARS2 speaking another dialect.

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Big picture: LBSL isn’t one disease — it’s a spectrum of mitochondrial aspartyl-tRNA synthetase deficiency. 🧬 Same enzyme, shifting vulnerability: neuronal → axonal → glial. Genotype sculpts phenotype.

Radiologic pearls: • Antenatal microcephaly + atrophy ≠ always migration disorder → think DARS2. • Cystic WM + no brainstem tract ≠ not LBSL → still DARS2. • Persistent lactate = mitochondrial signature that never lies.

Pathophysiologic poetry: Intron 2 splice defects spare the neuron—just enough translation to live. Null or catalytic-site mutations silence mtAspRS completely → neurons die in utero. Milder substitutions tip the burden to oligodendrocytes → white-matter disease sans tracts.

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MRI → Mechanism: 📉 Group 1: Diffuse cortical restriction → neuronal apoptosis → profound atrophy. 📈 Group 2: Diffusion-restricted WM → intramyelinic edema → glial pathology. So: 🧠 Neuronal LBSL vs 🌫 Glial LBSL — same gene, different cell death scripts.

Functional proof — yeast ortholog (MSD1): Substituting human mutations → respiratory failure. Most group 1 variants = oxidative growth arrest + loss of O₂ consumption. Some group 2 variants (Leu588Val, Lys606Met) = milder or temperature-sensitive defects.

Group 1 → structurally catastrophic alleles. Group 2 → partially active or conservative substitutions.

Genotype clues: All compound heterozygous; most lacked the “leaky” intron 2 splice variant (seen in 95% classic LBSL). Variants hit mtAspRS domains for  • tRNA^Asp binding  • Asp-AMP catalytic pocket  • Homodimerization. Contd

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Group 2 — The “white-matter” form 👶 Onset: 2 mo – 2 yr MRI: symmetric deep WM rarefaction, sparing periventricular & subcortical rims, middle callosal blade involvement, no brainstem lesions. Occasional enhancement + persistent lactate. Cystic evolution with age.

Group 1 — The “atrophic” form 🧠 Onset: antenatal → 3 mo 🍼 Microcephaly, arrested development, epilepsy MRI: profound cerebral hypoplasia + atrophy, thin cortex + callosum, tortuous cortical vessels, subdural effusions. Restricted diffusion = neuronal death in action.

The question: Can biallelic DARS2 mutations produce phenotypes beyond “classic” LBSL? 🧩 15 patients | Whole-exome sequencing | Two radiologic phenotypes emerged.

LBSL 101: A mitochondrial leukodystrophy defined by • Long-tract signal changes (brainstem + cord) • White-matter hyperintensity • Elevated lactate → Usually mild, childhood-onset, slowly progressive. But sometimes, the mitochondria don’t read the textbook.

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SPIN Tweetorial Wednesday Decoding DARS2 — When LBSL breaks its own rules 📖 Stellingwerff et al., Neurol Genet 2021;7:e559 🔗 DOI: 10.1212/NXG.0000000000000559 #Neuroradiology #SPINTweetorial #LBSL #MitochondrialDisease

While elevated lactate is commonly described, normal lactate levels can be observed. It is caused by mutations in the DARS2 gene.

This week's SPIN POV—A leukodystrophy affecting the white matter, brainstem, cerebellum, and cord should suggest leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL).

17) Bonus pearl Leigh syndrome dominated phenotypes with cord lesions and spanned both imaging groups — energy failure is an equal-opportunity mimicker.

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Expect area postrema, tumefaction, H-sign, snake-eyes — all without classic immune labs. Add PMD early to your differential and escalate genetic testing.

16) TL;DR take-home (printable) Spinal lesions in pediatric PMD are common when you look (58% of those imaged). Two signatures: Group A (white ± gray; cervical; demyelination-like) Group B (gray-only; thoracolumbar/conus; ischemia-like) (P < .01 by location)

15) Biggest trap Labeling as NMOSD/MOG/MS/infarct and stopping. In kids with PMD, mitochondrial dysfunction is the root cause even when radiology screams “immune” or “ischemic.” Treat the picture; hunt the mitochondria.