Table 1 Clinical information of 16 cases with late-onset cblC disease
Case No. | Gender | Age (year) | Duration | Onset symptom | Psychiatric symptoms | Cognitive impairment | Epilepsy | Pyramidal tract impairment | Peripheral nerve damage (EMG findings) | Visual impairment other symptoms | Response to treatment |
|---|---|---|---|---|---|---|---|---|---|---|---|
1 | F | 14 | 1 m | Cognitive impairment | Irritability psychosis | Moderate memory decline | – | Paraplegia Bilateral Pyramidal tract signs | Sensorimotor polyneuropathy of lower limbs (involved both axon and myelin) | – | Memory decline and psychiatric symptoms were remarkably recovered |
2 | M | 14 | 8 m | Cognitive impairment | Apathy lethargy depression | Severe cognitive impairment deterioration in school performance | Epileptic discharges in EEG | Bilateral Pyramidal tract signs | – | – | Cognitive impairment was partly recovered |
3 | M | 40 | 1 m | Cognitive impairment | – | Moderate memory impairment | – | Quadriplegia Bilateral Pyramidal tract signs | Sensorimotor polyneuropathy of lower limbs (involved both axon and myelin) | – | All symptoms were fully recovered |
4 | F | 22 | 3 m | Cognitive impairment | – | Moderate impaired memory and calculation ability | – | Paraplegia Bilateral Pyramidal tract signs | Sensorimotor polyneuropathy of lower limbs (involved myelin) | – | Moderate improvement of cognitive impairment |
5 | F | 18 | 7y | Gait disturbance | – | Mild memory impairment | Epileptic discharges in EEG | Progressive spastic paraplegia Bilateral Pyramidal tract signs | – | – | Mild improvement of gait disturbance |
6 | F | 13 | 5 m | Cognitive impairment | Irritability, aggressiveness | Moderate cognitive impairment, deterioration in school performance | – | Mild paraplegia Bilateral Pyramidal tract signs | – | – | Remarkable improvement of cognitive impairment |
7 | M | 26 | 4 m | Weakness of lower limbs | – | – | Generalized tonic-clonic seizures | Progressive spastic paraplegia, Bilateral Pyramidal tract signs | – | Visual acuity: normal, Funduscopy examination: optic nerve atrophy | Weakness of lower limbs was remarkably recovered |
8 | M | 16 | 2 m | Weakness of lower limbs | – | – | Generalized tonic-clonic seizures | Paraplegia Bilateral Pyramidal tract signs | – | – | Weakness of lower limbs was remarkably recovered |
9 | M | 32 | 1.5y | Psychiatric symptoms | Euphoria, agitation auditory and vision hallucinations aggressiveness | Mild memory impairment | – | Paraplegia Bilateral Pyramidal tract signs | – | Visual acuity: normal. Funduscopy examination: mild optic nerve atrophy pigmentary retinal dystrophy | Psychiatric symptoms were remarkably recovered |
10 | M | 29 | 9 m | Psychiatric symptoms | Euphoria, agitation irritability aggressiveness | Mild memory impairment | – | Paraplegia Bilateral Pyramidal tract signs | – | – | Psychiatric symptoms were remarkably recovered |
11 | F | 15 | 1y | Weakness of lower limbs | – | Mild memory impairment | – | Progressive spastic paraplegia Bilateral Pyramidal tract signs | – | – | Weakness of lower limbs was partly recovered |
12 | M | 23 | 2 m | Weakness of lower limbs | – | Mild memory impairment | Progressive spastic paraplegia Bilateral Pyramidal tract signs | – | – | Weakness of lower limbs was remarkably recovered | |
13 | M | 15 | 4 m | Cognitive impairment | – | Impaired memory and calculation ability | Mild paraplegia Bilateral Pyramidal tract signs | Sensory polyneuropathy of lower limbs (involved axon) | Decreased vision (right eye0.15, left eye 0.5, optic nerve damage) | Moderate improvement of vision and weakness | |
14 | M | 29 | 11y | Cognitive impairment | – | Moderate impaired memory speech difficulties | – | Paraplegia Bilateral Pyramidal tract signs | Sensorimotor polyneuropathy of four limbs (involved both axon and myelin) | – | Mild improvement of cognitive impairment |
15 | M | 20 | 6y | Epilepsy | – | – | Generalized tonic-clonic seizures | Bilateral Pyramidal tract signs | – | Thrombosis of peroneal vein and intramuscular vein of left lower limb | Epilepsy and thrombosis were improved with antiepileptic and anticoagulant drugs |
16 | F | 24 | 10y | Decreased vision depression | Moderate depression | Mild memory impairment | Generalized tonic-clonic seizures | Paraplegia Bilateral Pyramidal tract signs | – | Decreased vision(left eye 0.2 right eye 0.6 bilateral optic nerve atrophy) | Mild improvement of vision and depression |