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[Carbohydrate-deficient-glycoprotein syndrome and ophthalmological manifestations]
R Voegtlé1, O Laplace, J P Nordmann
1CHNO des Quinze-Vingts, 28, rue de Charenton, 75571 Paris cedex 12, France.
Insights
Carbohydrate-deficient-glycoprotein (CDG) syndromes are rare multisystemic diseases. Early diagnosis of CDG syndrome Ia is crucial, especially when ocular disorders like esotropia and retinitis pigmentosa are present.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Carbohydrate-deficient-glycoprotein (CDG) syndromes represent a novel class of inherited metabolic disorders.
- These multisystemic diseases arise from defects in the N-glycoprotein synthesis pathway.
Observation:
- A case study of an 18-month-old boy with CDG syndrome Ia.
- The patient exhibited facial dysmorphism, ataxia, hypotonia, and cerebellar hypoplasia.
- Ocular findings included esotropia, nystagmoid movements, retinitis pigmentosa, foveal hypoplasia, and abnormal electroretinograms.
Findings:
- CDG syndromes are characterized by a wide spectrum of clinical manifestations, including neurological and developmental issues.
- Four variants of CDG syndromes are recognized, each with distinct clinical features and prognoses.
- Ocular abnormalities, particularly esotropia and retinitis pigmentosa, are frequently observed, especially in CDG syndrome Ia.
Implications:
- The presence of esotropia and fundus alterations in a multisystemic disorder warrants investigation for CDG syndrome.
- Timely diagnosis of CDG syndromes can facilitate appropriate management and genetic counseling.
- This case highlights the importance of ophthalmological evaluation in the diagnostic workup of suspected CDG syndrome.
Introduction:
Carbohydrate-deficient-glycoprotein syndromes are new described multisystemic diseases. We report here the case of a young boy who presented with CDG syndrome Ia associated with typical ocular disorders.
Case Report:
This 18-month-old boy presented facial dysmorphism, ataxia, hypotonia and cerebellar hypoplasia. Ocular examination showed esotropia with nystagmoid movements and at fundoscopy signs of retinitis pigmentosa with foveal hypoplasia. Photopic and scotopic electroretinograms were altered.
Discussion:
CDG syndromes are metabolic disorders which affect N-glycoprotein synthesis. Clinical manifestations are various: hypotonia, cerebellar hypoplasia, developmental delay, pericardial effusion, etc. Four variants are described; each of them is associated with particular clinical disorders and prognosis. Ocular features are frequently associated (esotropia, retinitis pigmentosa) and especially in CDG syndrome Ia.
Conclusion:
Esotropia associated with fundus alterations appearing in a multisystemic disorder requires explorations to search for CDG syndrome.