PMC9021874_01
Timeline of medical care required from birth to enrollment in ABRT (38 months).
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F1
An infant, the fourth child of two married parents, was noted to have a low heart rate and floppy presentation upon birth via cesarean section with vacuum assist and required respiratory support with CPAP at 1 min of life (Figure 1).
(A) Transaxial T2 sequence: MRI of cervical spine revealed cystic myelomalacia involving mid and lower upper thoracic spinal cord between inferior C4 and T1 levels at age 1 month. (B) MRI sagittal image at 11 months of age again shows cystic myelomalacia from C4-T1.
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F2
The patient had a full workup including serum amino acids, urine organic acid, Pompei testing, rapid spinal muscle atrophy testing, CK, LFTs, lactate, pyruvic acid and exome testing; at present this workup has been negative." Magnetic resonance imaging at one month of age found severe cystic myelomalacia, reflecting previous trauma or spinal cord infarct, from C4-T1 (Figure 2) resulting in tetraplegia and respiratory compromise.
PMC9021874_02