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Alpha-mannosidosis: the first Turkish case

S Camur¹, T Coşkun, N Kiper

¹Department of Pediatrics, Hacettepe University Institute of Child Health, Nutrition and Metabolism, Ankara, Turkey.

Acta Paediatrica Japonica : Overseas Edition

|April 1, 1995

Summary

This case report details a 10-month-old boy with alpha-mannosidosis, a rare lysosomal storage disease. The patient exhibited recurrent infections and distinctive physical features, highlighting the diagnostic challenges of this condition.

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Area of Science:

Biochemistry
Genetics
Pediatrics

Background:

Alpha-mannosidosis is a rare autosomal recessive lysosomal storage disease.
It results from deficient activity of the enzyme alpha-mannosidase, leading to accumulation of oligosaccharides in cells.
Early diagnosis is crucial for managing symptoms and potential complications.

Observation:

A 10-month-old boy presented with recurrent bronchopneumonia and diarrhea.
Clinical features included facial coarsening, deafness, hepatosplenomegaly, umbilical hernia, pectus carinatum, Mongolian spots, and dysostosis multiplex.
Peripheral blood smear showed vacuolated lymphocytes.

Findings:

The patient's clinical presentation and laboratory findings suggested a lysosomal storage disease.
Abnormal urinary oligosaccharide pattern and exceptionally low serum and fibroblast alpha-mannosidase activity confirmed alpha-mannosidosis.
Similar features were noted in his deceased elder brother.

Implications:

This report represents the first documented case of alpha-mannosidosis in Turkey.
Highlights the importance of recognizing characteristic clinical and biochemical markers for early diagnosis.
Contributes to the global understanding of alpha-mannosidosis prevalence and presentation.

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