Table 1.
Patient demographics and clinical findings
| Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | Patient 7 | Patient 8 | Patient 9 | |
|---|---|---|---|---|---|---|---|---|---|
| Age, y | 27 | 24 | 20 | 21 | 29 | 20 | 18 | 27 | 17 |
| Age at FANS presentation, y | 20 | 19 | 13 | 11 | 22 | 17 | 17 | 24 | 16 |
| Sex | Female | Male | Male | Female | Female | Female | Male | Male | Male |
| FA complementation group | FANCL | FANCJ | FANCF | FANCD2 | FANCC | Unknown | Unknown | FANCD3 | Unknown |
| HCT, Y/N | Y | N | Y | Y | Y | Y | Y | Y | Y |
| Age at HCT, y | 11 | N/A | 5 | 8 | 9 | 4 | 9 | 7 | 7 |
| Transplant type | MUD | N/A | MUD | MSD | MSCBT | MSD | MUCBT | MUD | MUD |
| Preparative regimen | Flu/Cy/ATG | N/A | Flu/Cy/ATG/TBI | Flu/Cy/ATG | Cy/TBI | Bu/Flu/ATG | Flu/Cy/ATG/TBI | Flu/Cy/ATG/TBI | Bu/Flu/Cy/ATG |
| GVHD prophylaxis | T-cell depletion; CsA, MP | N/A | T-cell depletion; CsA, MP | CsA | None | T-cell depletion; OKT3 | CsA, MP | T-cell depletion; CsA | T-cell depletion; CsA |
| Post-HCT complications | Skin GVHD, CKD, cholestasis, AVN | N/A | Ocular GVHD, hepatic dysfunction, and hypothyroidism | Hepatic dysfunction and hypothyroidism | Hepatic dysfunction, hypothyroidism, and feeding difficulties | Ocular GVHD and skin GVHD | Hepatic dysfunction, hypothyroidism, and hypertension | Skin GVHD and gastrointestinal GVHD | CKD, cholestasis, and feeding difficulties |
| Onset of FANS after HCT, y | 9 | N/A | 8 | 3 | 13 | 13 | 8 | 17 | 9 |
| Neurologic symptoms at presentation | Transient right sided numbness and slurred speech | Transient hemiplegia | Visual defect and slurred speech | Right hand weakness | Vertigo | Headache and neck pain | Headaches, blurry vision, and fatigue | Spastic paraparesis and progressive weakness | Papilledema (incidental finding) |
| Evolving neurologic symptoms | Unilateral hemianopsia, lower extremity hypertonia/hyperreflexia, and numbness episodes (arm, hip, and tongue) | Unilateral hemianopsia, hemiparesis, seizures, and intermittent explosive disorder | Cranial nerve palsies, paresthesias, seizures, ataxia, and depression | Intermittent hemiparesis, paraparesis, and left upper quadrantanopia | Vertigo, tics, tongue fasciculations, and myoclonic jerks | Upper and lower extremity paresthesias, leg pain, and dizziness | Seizures, ataxia, and less verbal | Headaches, dysphagia, dysarthria, incontinenc, altered mental status, facial droop, and hypophonia | Seizure |
| Brain MRI findings | Dominant ring-enhancing lesion with edema; multiple small, enhancing cerebral, and cerebellar lesions with associated calcifications | Dominant ring-enhancing lesion with edema; multiple small, enhancing cerebral, and cerebellar lesions with associated calcifications | Dominant ring-enhancing lesion with vasogenic edema; multiple small, enhancing cerebral, cerebellar, and brain stem lesions with calcifications | Dominant ring-enhancing lesion with edema; multiple small, enhancing cerebral and cerebellar lesions with associated calcifications | 2 frontal ring-enhancing lesions, with scattered multifocal enhancing foci throughout the cerebellum and cerebrum | Dominant ring-enhancing lesion; multiple small, enhancing cerebral, brain stem, and cerebellar lesions | Frontal lobe lesion with vasogenic edema, mass effect; scattered cerebral, cerebellar foci | Dominant enhancing frontal lobe lesion with vasogenic edema, mass effect; 2 brain stem lesions, 1 additional enhancing cerebral lesion | Dominant ring-enhancing lesion (bifrontal) with edema; multiple small, enhancing cerebral, and cerebellar lesions |
| Spinal MRI Findings | No | No | Focal lesion in the thoracic region | Three foci of abnormal enhancement in the spinal cord (thoracic) | No | Scattered enhancing foci within the cord, cervical, and lumbar | No | Enhancing foci in the cord at the cervical and thoracic regions | No |
| Brain tissue examined, Y/N | Y | Y | Y | N | N | N | Y | N | N |
| Duration of neurologic involvement, y | 7 | 5 | 7 | 10 | 10 | 4 | 2 | 2 | 1 |
| Cause of death | Renal failure | N/A | N/A | N/A | N/A | N/A | CNS nocardiosis | N/A | N/A |
ATG, antithymocyte globulin; AVN, avascular necrosis; Bu, busulfan; CKD, chronic kidney disease; CsA, cyclosporine; Cy, cyclophosphamide; Flu, fludarabine; MP, methylprednisolone; MSCBT, matched sibling cord blood transplant; MSD, matched sibling donor; MUCBT, matched unrelated cord blood transplant; MUD, matched unrelated donor; N/A, not applicable; OKT3, muromonab-CD3; Y/N, yes/no.