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Cerebellar hypoplasia in children with the carbohydrate-deficient glycoprotein syndrome
P R Jensen1, F J Hansen, F Skovby
1Department of Radiology, Rigshospitalet, Copenhagen, Denmark.
Insights
Carbohydrate-deficient glycoprotein syndrome, a genetic disorder affecting protein glycosylation, was studied in seven children. All exhibited cerebellar hypoplasia, with two showing brain atrophy after neurological decline.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Carbohydrate-deficient glycoprotein syndrome (CDGS) is an inherited metabolic disorder.
- It is characterized by defects in protein glycosylation, leading to multi-systemic effects.
- Clinical manifestations include failure to thrive, neurological deficits, and distinct physical features.
Purpose of the Study:
- To describe the clinical and neuro-radiological findings in a cohort of children with CDGS.
- To highlight the specific neuro-imaging abnormalities associated with this condition.
Main Methods:
- Case series describing seven children diagnosed with CDGS.
- Neuro-radiological investigations, including MRI, were performed.
Main Results:
- All seven children presented with cerebellar hypoplasia.
- Two children experienced supratentorial atrophy.
- These findings were observed in conjunction with typical CDGS symptoms.
Conclusions:
- Cerebellar hypoplasia is a consistent neuro-imaging finding in CDGS.
- CDGS can lead to progressive neurological damage, including supratentorial atrophy.
- Early diagnosis and understanding of neuro-imaging patterns are crucial for managing CDGS.
Abstract:
We describe seven children with the carbohydrate-deficient glycoprotein syndrome, an autosomal recessive inborn error of protein glycosylation characterised by failure to thrive, neurological dysfunction and a unique pattern of physical abnormalities. Neuro-radiological investigations revealed cerebellar hypoplasia in all seven children. Two children also developed supratentorial atrophy following episodes of neurological deterioration.