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

Huemer, Martina; Scholl-Bürgi, Sabine; Hadaya, Karine; Kern, Ilse; Beer, Ronny; Seppi, Klaus; Fowler, Brian; Baumgartner, Matthias R; Karall, Daniela

doi:10.1186/s13023-014-0161-1

Orphanet Journal of Rare Diseases

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
No.	Reference	Years	Sex	Clinical presentation	OH-Cbl	Betaine	Folate	Carnitine	Met	Outcome
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
49-58	[4]	1-13.5	5 F	No individual information reported	No information available					Overall reduction of symptoms

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ISSN: 1750-1172

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