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

Veneselli, Edvige; Biancheri, Roberta; Rocco, Maja Dl; Tortorelli, Silvia

doi:10.1016/s1090-3798(98)80037-8

Cited by 13 publications

(7 citation statements)

References 21 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Hydrocele, inguinal hernia and/or cryptorchidism was seen in 10 of 12 boys in one series (Kjaergaard et al 2001), while cryptorchidism was described in 4 other patients (Veneselli et al 1998; Garel et al 1998; Truin et al 2008; Resende et al 2014). The most commonly reported malformations were multicystic kidneys, reported in seventeen patients (thirteen detected by ultrasound, three by renal biopsy and one by autopsy) followed by enlarged kidney size in four patients, and hydronephrosis in one patient (Schiff et al 2017, van de Kamp et al 2007, Hertz-Pannier et al 2006, De Lonlay et al 2001).…”

Section: Resultsmentioning

confidence: 92%

Recognizable phenotypes in CDG

Ferreira

Altassan

Marques‐da‐Silva

et al. 2018

J of Inher Metab Disea

View full text Add to dashboard Cite

Pattern recognition, using a group of characteristic, or discriminating features, is a powerful tool in metabolic diagnostic. A classic example of this approach is used in biochemical analysis of urine organic acid analysis, where the reporting depends more on the correlation of pertinent positive and negative findings, rather than on the absolute values of specific markers. Similar uses of pattern recognition in the field of biochemical genetics include the interpretation of data obtained by metabolomics, like glycomics, where a recognizable pattern or the presence of a specific glycan sub-fraction can lead to the direct diagnosis of certain types of congenital disorders of glycosylation. Another indispensable tool is the use of clinical pattern recognition-or syndromology-relying on careful phenotyping. While genomics might uncover variants not essential in the final clinical expression of disease, and metabolomics could point to a mixture of primary but also secondary changes in biochemical pathways, phenomics describes the clinically relevant manifestations and the full expression of the disease. In the current review we apply phenomics to the field of congenital disorders of glycosylation, focusing on recognizable differentiating findings in glycosylation disorders, characteristic dysmorphic features and malformations in PMM2-CDG, and overlapping patterns among the currently known glycosylation disorders based on their pathophysiological basis.

show abstract

Section: Resultsmentioning

confidence: 92%

Recognizable phenotypes in CDG

Ferreira

Altassan

Marques‐da‐Silva

et al. 2018

J of Inher Metab Disea

View full text Add to dashboard Cite

show abstract

“…Considering peripheral nervous system, mild peripheral neuropathy is also a frequently reported symptom, with prominent involvement of motor nerves 27. Electrophysiology was not performed in all patients.…”

Section: Discussionmentioning

confidence: 99%

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature

et al. 2017

View full text Add to dashboard Cite

show abstract

“…46 Motor-nerve conduction gradually slowed over time, with a concomitant increase in latency, a decrease in amplitude of somatosensory evoked potentials, and progressive impairment of response on electroretinography and of visual evoked potentials that were consistent with pigmentary retinopathy. Selective rod involvement was noted on electroretinography.…”

Section: Selected Specific Defectsmentioning

confidence: 99%

Neurology of inherited glycosylation disorders

Freeze

Eklund

et al. 2012

The Lancet Neurology

179

176

View full text Add to dashboard Cite

Congenital disorders of glycosylation comprise most of the nearly 70 genetic disorders known to be caused by impaired synthesis of glycoconjugates. The effects are expressed in most organ systems, and most involve the nervous system. Typical manifestations include structural abnormalities, (eg, rapidly progressive cerebellar atrophy), myopathies (including congenital muscular dystrophies and limb-girdle dystrophies), strokes and stroke-like episodes, epileptic seizures, developmental delay, and demyelinating neuropathy. Patients can have neurological symptoms associated with coagulopathies, immune dysfunction with or without infections, and cardiac, renal, or hepatic failure, which are common features of glycosylation disorders. The diagnosis of congenital disorders of glycosylation should be considered for any patient with multisystem disease and in those with more specific phenotypic features. Measurement of concentrations of selected glycoconjugates can be used to screen for many of these disorders, and molecular diagnosis is becoming more widely available in clinical practice. Disease-modifying treatments are available for only a few disorders, but all affected individuals benefit from early diagnosis and aggressive management.

show abstract

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

Cited by 13 publications

References 21 publications

Recognizable phenotypes in CDG

Recognizable phenotypes in CDG

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature

Neurology of inherited glycosylation disorders

Contact Info

Product

Resources

About