Analysis of a case with typical Hutchinson-Gilford progeria syndrome with scleroderma-like skin changes and review of literature / 中华儿科杂志
Chinese Journal of Pediatrics
; (12): 112-116, 2014.
Article
em Zh
| WPRIM
| ID: wpr-288778
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To explore clinical, radiographical and genetic characteristics of classical Hutchinson-Gilford progeria syndrome (HGPS).</p><p><b>METHOD</b>Data of a case of HGPS diagnosed at Tongji Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology was analyzed and related literature was reviewed.</p><p><b>RESULT</b>At the age of 8 months, the affected-infant presented with characteristic manifestation such as short stature, low weight, frontal bossing, alopecia, prominent scalp veins, micrognathia with a vertical midline groove in the chin, sclerodermatous skin, knee joints contracture with a horse-riding stance, and limited range of movement of ankle joints. Blood test showed blood platelet count (416-490) ×10(9)/L. Lower extremities MRI showed reduced subcutaneous fat. LMNA gene analysis showed that the affected-infant carried typical heterozygous mutation: c. 1824C>T (p. G608G), while his parents were normal. At the age of 13 months, X-rays showed short distal phalanges and clavicles with acro-osteolysis. After following up for 15 months, his appearance of progeria became more apparent. As far as we know, there are only 2 cases of classical HGPS confirmed by gene analysis in China.</p><p><b>CONCLUSION</b>Classical HGPS should be considered when infants appeared with sclerodermatous skin. Genetic analysis could help to diagnose classical HGPS as early as possible and avoid unnecessary investigations. In addition, affected-infants need to be long term followed-up and provided genetic counseling.</p>
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Índice:
WPRIM
Assunto principal:
Patologia
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Progéria
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Dermatopatias
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Anormalidades Múltiplas
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Osteólise Essencial
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Diagnóstico por Imagem
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Análise Mutacional de DNA
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Tomografia Computadorizada por Raios X
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Estudos Retrospectivos
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Extremidade Inferior
Tipo de estudo:
Diagnostic_studies
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Observational_studies
Limite:
Humans
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Infant
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Male
Idioma:
Zh
Revista:
Chinese Journal of Pediatrics
Ano de publicação:
2014
Tipo de documento:
Article