Mucolipidoses type II: Case report
| Autor: | Paulina Mabe S, Silvia Andreani V, Claudio Daza B, María Mena R, Mariana Aracena A |
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| Jazyk: | Spanish; Castilian |
| Rok vydání: | 2003 |
| Předmět: |
Psychomotor learning
medicine.medical_specialty Psychomotor retardation Mucolipidosis Mucolipidoses First year of life Dwarfism Lysomal storage diseases General Medicine Disease Biology Poor weight gain medicine.disease Mucopolysaccharidosis Infant newborn diseases Endocrinology Internal medicine medicine I-cell disease medicine.symptom |
| Zdroj: | Revista médica de Chile v.131 n.3 2003 SciELO Chile CONICYT Chile instacron:CONICYT Revista médica de Chile, Volume: 131, Issue: 3, Pages: 314-319, Published: MAR 2003 |
| Popis: | We report a female newborn with type II mucolipidoses. This condition is characterized clinically by Hurler like features, progressive psychomotor retardation and death during the first or second year of life. Most cases present during the first year of life, with poor weight gain and coarse facies features. The cause of this rare autosomal recessive hereditary disease is the deficiency of the enzyme N-acetylglucosamine-1-phosphotransferase, required for the synthesis of mannose-6-phosphate, the ligand that allows the transport of acid hydrolases into lysosomes. The patient had clinical features commonly found in mucolipidosis II, including disproportionate dwarfism, retarded psychomotor development, coarse facies features, gibbous and restricted joint mobility. The diagnosis was proved by an extremely elevated activity of lysosomal enzymes in the serum, secondary to non-regulated secretion and subsequent intracellular depletion of these proteins. The child suffered recurrent pneumonia and died at 22 months of age (Rev Méd Chile 2003; 131: 314-9). |
| Databáze: | OpenAIRE |
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