PMC7227760_01
Patient 1 showing bilateral drooping of eyelids
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F1
Examination revealed optic atrophy in both eyes [Figure 1].
Histopathology shows (A) normal eosin and hematoxylin stain, (B) Gomori's trichrome normal stain, (C) normal succinic dehydrogenase, and (D) no Cytochrome C oxidase-deficient fibers
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F2
Electro myography showed myopathic pattern and left biceps biopsy showed normal architecture, including modified Gomori's trichrome stain [Figure 2].
Values of complexes in respiratory chain values revealing severe complex 1 deficiency
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F3
However respiratory chain assay showed severe complex 1 deficiency [Figure 3].
Preoperative MRI of patient 1 showing (A) retroflexed odontoid, (B) arachnoid cyst in thoracic region, (C) spinal cord pushed anteriorly and laterally, and (D) tethered cord
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F4
Magnetic resonance imaging (MRI) showed retroflexed dens with cervicomedullary compression, poorly developed anterior arch of atlas, brachycephaly, long arachnoid cyst with dural ectasia from cervical to lumbar region with anterior displacement of cord, and low lying cord tethered at L4 [Figure 4].
(A) Cord atrophy. (B) Partly decompressed lumbar cord. (C) Partly decompressed thoracic cord
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F5
He underwent lumbar drain placement, L2 left hemilaminectomy, and repair of dural defect, and at 2 months of follow-up, he is presently ambulant, and his postoperative imaging showed significant relief of compression [Figure 5].
Patient 2 showing dysmorphic features without ptosis
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F6
He did not undergo muscle biopsy; however, his MRI showed similar features [Figures 6 and 7].
MRI of patient 2 showing (A) retroflexed odontoid, (B) arachnoid cyst in dorsal cord, (C) arachnoid cyst extending along root sleeves, and (D) arachnoid cyst in lumbar region
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F7
He did not undergo muscle biopsy; however, his MRI showed similar features [Figures 6 and 7].