Clinical, hematologic, biochemical, electrophysiologic, and radiologic findings of the patients
| Patient no. . | 2888 . | 5078 . | 5119 . | 2962 . | 3316 . |
|---|---|---|---|---|---|
| Age of onset, mo | 3.5 | 7 | 3 | 3 | 4 |
| Family origin | Libyan Jewish | Libyan Jewish | Libyan/Moroccan Jewish | Moroccan/Egyptian Jewish | Libyan Jewish; parents first cousins |
| Family history | Affected sibling | Affected sibling | Negative | Negative | Negative |
| Hemoglobin, g/dL | 6.0-11 | 7.8-12 | 8.0-11.8 | 7.8-11.8 | 7.7-11.5 |
| WBCs, × 109/L | 5500 | 7200 | 5600 | 5400 | 7500 |
| Platelets, ×109/L | 405.0 | 370.0 | 560.0 | 380.0 | 373.0 |
| Reticulocyte count, % | 5.4 | 5.7 | 5.85 | 4.5 | 4.95 |
| LDH, U/L (normal, 240-480) | 1030 | 885 | 920 | 1192 | 770 |
| Haptoglobin, mg/dL (normal, 30-200) | NA | 4.7 | 3.23 | 5.3 | 4.1 |
| Total bilirubin, mol/L (normal, 0-17) | 6.0 | 5.8 | 6.1 | 6.2 | 4.2 |
| Direct Coombs test | |||||
| Other systemic manifestations | Hemolytic-uremic syndrome–like disease during plasmapheresis | No | No | Communication difficulties | No |
| Nerve conduction studies | Sensory motor demyelination with secondary axonal damage | Normal sensory conduction motor demyelination with secondary axonal damage | Sensory motor demyelinating with secondary axonal damage | Sensory/motor axonal neuropathy | Sensory motor demyelination with secondary axonal damage |
| Cerebrospinal fluid protein, control < 40 mg/100 mL | 140 | 68 | 113 | 8240 | 70 |
| Spine magnetic resonance findings | NA | NA | Roots enhancement | Roots enhancement | Normal imaging |
| Nerve biopsy | EM: thinning of myelin in several fibers (demyelinization ); no inflammatory infiltrates | NA | Mild reduction in fiber number; axonal degeneration in a few fibers | Demyelination with some axonal loss | NA |
| Previous therapies | CS, HIG, PE, cyclosporine, rituximab | CS, HIG | CS, HIG | CS, HIG | CS, HIG |
| Response to therapy | Partially positive in upper limbs; loss of effect with time | Partially positive in upper limbs. | Partially positive in upper limbs | Partially positive in upper limbs | Partially positive in upper limbs |
| Current age, mo | Died at 3.5 y of age | 18 | 13 | 54 | 55 |
| Functional level | Flaccid paralysis of lower limbs; rolls over; sits with support; moderate weakness in hands | Flaccid paralysis of lower limbs; sits with support; severe paralysis of hands with slight movement of palms and right shoulder | Walks with orthoses; bilateral drop foot; mild weakness in hands | Stands on knees; stands with orthoses; mild to moderate weakness in hands |
| Patient no. . | 2888 . | 5078 . | 5119 . | 2962 . | 3316 . |
|---|---|---|---|---|---|
| Age of onset, mo | 3.5 | 7 | 3 | 3 | 4 |
| Family origin | Libyan Jewish | Libyan Jewish | Libyan/Moroccan Jewish | Moroccan/Egyptian Jewish | Libyan Jewish; parents first cousins |
| Family history | Affected sibling | Affected sibling | Negative | Negative | Negative |
| Hemoglobin, g/dL | 6.0-11 | 7.8-12 | 8.0-11.8 | 7.8-11.8 | 7.7-11.5 |
| WBCs, × 109/L | 5500 | 7200 | 5600 | 5400 | 7500 |
| Platelets, ×109/L | 405.0 | 370.0 | 560.0 | 380.0 | 373.0 |
| Reticulocyte count, % | 5.4 | 5.7 | 5.85 | 4.5 | 4.95 |
| LDH, U/L (normal, 240-480) | 1030 | 885 | 920 | 1192 | 770 |
| Haptoglobin, mg/dL (normal, 30-200) | NA | 4.7 | 3.23 | 5.3 | 4.1 |
| Total bilirubin, mol/L (normal, 0-17) | 6.0 | 5.8 | 6.1 | 6.2 | 4.2 |
| Direct Coombs test | |||||
| Other systemic manifestations | Hemolytic-uremic syndrome–like disease during plasmapheresis | No | No | Communication difficulties | No |
| Nerve conduction studies | Sensory motor demyelination with secondary axonal damage | Normal sensory conduction motor demyelination with secondary axonal damage | Sensory motor demyelinating with secondary axonal damage | Sensory/motor axonal neuropathy | Sensory motor demyelination with secondary axonal damage |
| Cerebrospinal fluid protein, control < 40 mg/100 mL | 140 | 68 | 113 | 8240 | 70 |
| Spine magnetic resonance findings | NA | NA | Roots enhancement | Roots enhancement | Normal imaging |
| Nerve biopsy | EM: thinning of myelin in several fibers (demyelinization ); no inflammatory infiltrates | NA | Mild reduction in fiber number; axonal degeneration in a few fibers | Demyelination with some axonal loss | NA |
| Previous therapies | CS, HIG, PE, cyclosporine, rituximab | CS, HIG | CS, HIG | CS, HIG | CS, HIG |
| Response to therapy | Partially positive in upper limbs; loss of effect with time | Partially positive in upper limbs. | Partially positive in upper limbs | Partially positive in upper limbs | Partially positive in upper limbs |
| Current age, mo | Died at 3.5 y of age | 18 | 13 | 54 | 55 |
| Functional level | Flaccid paralysis of lower limbs; rolls over; sits with support; moderate weakness in hands | Flaccid paralysis of lower limbs; sits with support; severe paralysis of hands with slight movement of palms and right shoulder | Walks with orthoses; bilateral drop foot; mild weakness in hands | Stands on knees; stands with orthoses; mild to moderate weakness in hands |
LDH indicates lactate dehydrogenase; CS, corticosteroids; HIG, human Ig; PE, plasmapheresis; and NA, not available.