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Table 1 Age at first symptoms, clinical presentation, treatment and outcome in 58 late-onset cblC cases

From: Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy

No. Reference Age at onset Sex Clinical presentation Treatment Outcome
Years OH-Cbl Betaine Folate Carnitine Met
1 [12] 1.25 F PAH x      Complete recovery
2 [13] 1.5 M PAH, HUS Untreated Deceased without diagnosis
3 [7] 1.5 F No information available No information available No information available
4 [7] 1.5 F No information available No information available No information available
5 [7] 2 M Lethargy, convulsions, hypotonia No information available No information available
6 [7] 2 M No information available No information available No information available
7 [10] 2,5 M Asymptomatic Untreated No information available
8 [13] 2,5 M PAH, HUS x      Deceased
9 [14] 3 M PAH, HUS Untreated Deceased without diagnosis
10 [13] 3 M PAH, HUS Untreated Deceased without diagnosis
11 [7] 3.5 M Cognitive decline, lethargy, convulsions No information available No information available
12 [13] 4 F PAH, HUS x      Progressive PAH
13 [15] 4 F HUS x x x    Complete recovery
14 [16] 4 F Cognitive decline, neuropathy, ataxia x x x    Improvement, mild cognitive impairment, neurological sequelae
15 [17] 6 F HUS x x x    Chronic renal failure
16 [18] 7 F Neuropathy, myelopathy, cognitive impairment, epilepsy x   x    Cognition improved, seizures resolved, neurological sequelae
17 [17] 8 F HUS x x x    Renal parameters improved
18 [19] 10 F Acute cognitive decline, anorexia, catatonia, psychosis, seizures. Brain volume loss, thinned corpus callosum x x     Seizures and psychiatric symptoms improved
19 [20] 11 F Cognitive decline, behavioral changes, ataxia, myoclonic jerks x x x x   Complete recovery
20 [15] 11 M HUS, hypertensive encephalopathy, coma, convulsions x x x    Complete recovery (but antihypertensive drugs necessary)
21 [9] 12 F Ataxia, neuropathy, myelopathy, mild neuropsychiatric symptoms. x      Improved; neurological sequelae
22 [21] 13 F Cognitive decline, ataxia/dysarthria, EEG abnormal x      Cognition improved, neurological sequelae
23 [13] 14 F PAH, HUS x      "Stable" disease
24 [19] 14 F Cognitive decline, depression, ataxia, seizures, neuropathy/myelopathy x x   x   Improved; neurological sequelae
25 [10] 14 M Acute psychosis, mental retardation Untreated No information available
26 [22] 16 F Thromboembolism, neuropathy, myelopathy, psychiatric symptoms x x x x   Disease progression
27 [23] 16 M Atypical glomerulopathy x x    x Coma, deceased
28 [24] 18 F Glomerulonephritis; psychiatric symptoms, cognitive impairment, recurrent thromboses, pulmonary embolism, seizures, neuropathy, myelopathy, cortical atrophy, leukoencephalopathy, corpus callosum agenesis x x x    Deceased after initial improvement
29 [25] 20 M HUS, renal failure, malignant hypertension x x x    Improved, renal function stable
30 [26] 20 M Neuropathy, myelopathy, progressive encephalopathy, confusion, deep venous thrombosis, progressive respiratory failure x    x   Improved, neurological sequelae
31 [18] 22 F Triggered by pregnancy/caesarian section: Sluggish response, neuropathy x   x    Complete recovery
32 [27] 23 M Cognitive impairment, ataxia, neuropathy, spinal cord myelin lesions x x x x   Improved, neurological sequelae
33 [22] 24 F Myelopathy x x x x   Moderate myelopathy
34 [9] 29 F Asymptomatic Untreated Asymptomatic
35 [11] 29 F Asymptomatic x      Biochemical response
36 [28] 32 F Progressive neuropathy, myelopathy, optic disk pallor, leukopenia Untreated Deceased without diagnosis
37 [24] 33 F Glomerulonephritis, recurrent deep venous thrombosis. x x x    No more thromboses
38 [29] 36 F Neuropathy, psychiatric symptoms x x x    Mental status improved, neurological sequelae
39 [30] 38 M Hypertension, seizures, progressive confusion, progressive periventricular white matter lesions x x x    Complete recovery
40 [18] 40 M Cognitive decline, hallucinations, neuropathy, myelopathy, brain atrophy. x   x    Complete recovery
41 [24] 41 M Depression, neuropathy, myelopathy, periventricular leucoencephalopathy, abnormal signal in spinal cord myelin x x x    Overall improvement. Spinal cord myelin lesion disappeared
42 [28] 44 F Cognitive decline, optic disk pallor, venous thrombosis, pulmonary embolism Untreated Deceased without diagnosis
43-48 [3] 4-14 n.a. No individual information reported No information available N = 5 "very positive"; n = 1 "moderately impaired"
49-58 [4] 1-13.5 5 M No individual information reported No information available Overall reduction of symptoms
5 F
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172

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