Rivista di formazione e aggiornamento di pediatri e medici operanti sul territorio e in ospedale. Fondata nel 1982, in collaborazione con l'Associazione Culturale Pediatri.
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Caso contributivo
Neonato piccolo, ipotonico, con difficoltà di alimentazione: pensiamo anche alla sindrome di Temple
1Pediatria e Neonatologia, Ospedale di Ravenna, 2UO di Genetica Medica, 3Pediatria di Comunità, Ravenna
AUSL della Romagna
Indirizzo per corrispondenza: sara.dal.bo@gmail.com
A small hypotonic infant with feeding difficulties: a case of Temple syndrome
Key words: Temple syndrome, Imprinting disorder, Growth retardation, Hypotonia, Difficult feeding
Temple syndrome is a rare imprinting disorder mainly due to maternal uniparental disomy of the chromosome 14. It represents the main differential diagnosis of Silver-Russell and Prader-Willi syndrome. This syndrome is characterized by growth retardation, hypotonia, difficult feeding, development delay and precocious puberty. The absence of congenital pathognomonic malformations and universally recognized screening methodologies make this pathology be underdiagnosed, so the analysis of 14q32 should be evaluated in all cases of intrauterine growth restriction, hypotonia and neonatal feeding difficulties. It should also be considered in cases of unexplained early puberty associated with poor stature growth. The paper presents the case of a girl with the final diagnosis of Temple syndrome, with an initial picture of intrauterine growth retardation, axial hypotonia and feeding difficulties. The initial diagnostic suspicion was a Silver-Russell syndrome.
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