Neuropediatrics 2001; 32(1): 14-22
DOI: 10.1055/s-2001-12217
Original Article

Georg Thieme Verlag Stuttgart · New York

Cobalamin (Cbl) C/D Deficiency: Clinical, Neurophysiological and Neuroradiologic Findings in 14 Cases

R. Biancheri1 , R. Cerone2 , M. C. Schiaffino2 , U. Caruso2 , E. Veneselli3 , M. V. Perrone3 , A. Rossi4 , R. Gatti1
  • 1 III. Division of Paediatrics, G. Gaslini Institute, Genova, Italy
  • 2 University Department of Paediatrics, G. Gaslini Institute, Genova, Italy
  • 3 University Department of Child Neuropsychiatry, G. Gaslini Institute, Genova, Italy
  • 4 Department of Paediatric Neuroradiology, G. Gaslini Institute, Genova, Italy
Weitere Informationen

Publikationsverlauf

Publikationsdatum:
31. Dezember 2001 (online)

The early onset type of cobalamin (Cbl) C/D deficiency is characterised by feeding difficulties, failure to thrive, hypotonia, seizures, microcephaly and developmental delay. It has an unfavourable outcome, often with early death and significant neurological impairment in survivors. While clinical and biochemical features of Cbl C/D deficiency are well known, only a few isolated case reports are available concerning neurophysiological and neuroimaging findings. We carried out clinical, biochemical, neurophysiological and neuroradiologic investigations in 14 cases with early-onset of the Cbl C/D defect. Mental retardation was identified in most of the cases. A variable degree of supratentorial white matter atrophy was detected in 11 cases by MR imaging and tetraventricular hydrocephalus was present in the remaining 3 patients. Waking EEG showed a clear prevalence of epileptiform abnormalities, possibly related to the high incidence of seizures in these cases. Increased latency of evoked responses and/or prolongation of central conduction time were the most significant neurophysiological abnormalities. The selective white matter involvement, shown both by neuroradiologic and neurophysiological studies, seems to be the most consistent finding of Cbl C/D deficiency and may be related to a reduced supply of methyl groups, possibly caused by the dysfunction in the methyl-transfer pathway.

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Dr. Roberta Biancheri

III. Division of Paediatrics
G. Gaslini Institute

Largo G. Gaslini, 5

16148 Genova

Italy

eMail: roberta.biancheri@tin.it