Related Experiment Videos
Severe type Hunter's syndrome. Polysomnographic and neuropathological study
M Kurihara1, K Kumagai, K Goto
1Department of Pediatrics, Kanagawa Rehabilitation Center, Japan.
Neuropediatrics
|October 1, 1992
Summary
This study presents a severe Hunter's syndrome case in a male patient who lived to 19, succumbing to respiratory failure. Autopsy revealed ganglioside accumulation in neurons, potentially explaining central sleep apnea observed in this rare genetic disorder.
Area of Science:
- Biomedical Science
- Genetics
- Neurology
Background:
- Hunter's syndrome (Mucopolysaccharidosis type II) is a rare genetic disorder.
- Characterized by progressive cellular accumulation of glycosaminoglycans.
- Leads to multi-systemic clinical manifestations and reduced lifespan.
Observation:
- A severe case of Hunter's syndrome in an adult male patient is detailed.
- The patient exhibited both obstructive and central type sleep apnea.
- Clinical deterioration included progressive mental and physical decline.
Findings:
- Autopsy revealed significant endocardial thickening, organomegaly (liver, spleen), and cerebral atrophy.
- Histopathology showed diffuse cytoplasmic vacuolations in various cell types, including neurons.
- Ultrastructural analysis suggested ganglioside accumulation in neurons and mucopolysaccharide accumulation in other cells.
Implications:
- Massive ganglioside accumulation in respiratory center neurons may correlate with central sleep apnea.
- This case highlights the extended survival and complex polysomnographic findings in severe Hunter's syndrome.
- Understanding cellular storage mechanisms is crucial for managing Hunter's syndrome complications.