Neurophysiological findings in a case of carbohydrate-deficient glycoprotein (CDG) syndrome type I with phosphomannomutase deficiency

Edvige Veneselli, Roberta Biancheri, Maja Di Rocco, Silvia Tortorelli

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13 Citations (Scopus)

Abstract

The carbohydrate-deficient glycoprotein (CDG) syndromes are multisystemic disorders involving the glycosylation pathway. The most common subtype is CDG syndrome type I (CDG I). In most CDG I patients a phosphomannomutase (PMM) deficiency has been recognized as the basic defect. We made a neurophysiological evaluation in an 8-year-old boy affected by CDG I with PMM deficiency. The evaluation included central and peripheral nervous system assessment [electroencephalogram (EEG), multimodal evoked potentials (MFP), somatosensory evoked potentials (SEP), visual evoked potentials (VEP), auditory brainstem response (ABR), electroretinogram (ERG) and motor and sensory nervous conduction velocity (NCV)]. We found a peculiar electrophysiological pattern characterized by slowly and mildly progressive motor NCV reduction; progressive impairment of ERG and VEP; slowing of background activity and sharp waves at the EEGs; late sensorineural abnormality of ABR; decreased amplitude and increased latency of SEP. To our knowledge this is the first report involving the neurophysiological aspects both at onset and during follow-up of a case of CDG I with proven PMM deficiency.

Original languageEnglish
Pages (from-to)239-244
Number of pages6
JournalEuropean Journal of Paediatric Neurology
Volume2
Issue number5
Publication statusPublished - 1998

Fingerprint

Congenital Disorders of Glycosylation
Glycoproteins
Carbohydrates
Somatosensory Evoked Potentials
Visual Evoked Potentials
Brain Stem Auditory Evoked Potentials
Electroencephalography
Peripheral Nervous System
Glycosylation
Evoked Potentials
Central Nervous System
phosphomannomutase

Keywords

  • Carbohydrate-deficient glycoprotein syndrome
  • Electroencephalogram
  • Electroretinogram
  • Evoked potentials
  • Nervous conduction velocity
  • Phosphomannomutase deficiency

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Neurology

Cite this

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abstract = "The carbohydrate-deficient glycoprotein (CDG) syndromes are multisystemic disorders involving the glycosylation pathway. The most common subtype is CDG syndrome type I (CDG I). In most CDG I patients a phosphomannomutase (PMM) deficiency has been recognized as the basic defect. We made a neurophysiological evaluation in an 8-year-old boy affected by CDG I with PMM deficiency. The evaluation included central and peripheral nervous system assessment [electroencephalogram (EEG), multimodal evoked potentials (MFP), somatosensory evoked potentials (SEP), visual evoked potentials (VEP), auditory brainstem response (ABR), electroretinogram (ERG) and motor and sensory nervous conduction velocity (NCV)]. We found a peculiar electrophysiological pattern characterized by slowly and mildly progressive motor NCV reduction; progressive impairment of ERG and VEP; slowing of background activity and sharp waves at the EEGs; late sensorineural abnormality of ABR; decreased amplitude and increased latency of SEP. To our knowledge this is the first report involving the neurophysiological aspects both at onset and during follow-up of a case of CDG I with proven PMM deficiency.",
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AU - Veneselli, Edvige

AU - Biancheri, Roberta

AU - Di Rocco, Maja

AU - Tortorelli, Silvia

PY - 1998

Y1 - 1998

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