Aprile 2006 - Volume XXV - numero 4

Medico e Bambino


Pagine elettroniche ; Caso Contributivo

Rash orticarioide alla nascita e malattia infiammatoria cronica

R. Meneghetti, A. Favia*, D. Giglia, L. Lepore

Clinica Pediatrica, IRCCS “Burlo Garofolo”, Università di Trieste
*Divisione di Pediatria, Ospedale di Portogruaro, Venezia

Indirizzo per corrispondenza: leporel@burlo.trieste.it

NEONATAL URTICARIA-LIKE RASH AND MULTISYSTEMIC INFLAMMATORY DISEASE

Key words: Urticarial rash, Fever, Arthropaty, Neurological involvement, CINCA syndrome

We describe two unrelated children with neonatal onset of urticarial skin rash and subsequent development of a chronic multisystemic inflammatory syndrome, characterized by fever episodes, deforming arthropaty, central-nervous-system involvement, sensorineural hearing loss (chronic, infantile, neurologic, cutaneous and articular syndrome or CINCA syndrome). In both children typical facies with frontal bossing and saddle back nose was observed. We describe the molecular basis (CIAS1/cryopyrin mutations) and the pathogenetic hypothesis of CINCA. Therapy with IL-1ß-receptor blockade (anakinra) was successful in both cases.

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R. Meneghetti, A. Favia, D. Giglia, L. Lepore Rash orticarioide alla nascita e malattia infiammatoria cronica. Medico e Bambino 2006;25(4):257 https://www.medicoebambino.com/?id=0604_257.pdf

Pagine elettroniche ; Caso Contributivo

Segnalazione di un caso di diabete neonatale

G. Dioguardi, G. Ricciardi, G. Micelisopo, A. Gallo, AM. D’Antonio, M. De Vivo, A. Palermo

Divisione di Neonatologia, Ospedale “San Gennaro”, ASL Napoli 1

Indirizzo per corrispondenza: giod@interfree.it

DETECTION OF NEONATAL DIABETES

Key words: Neonatal diabetes, Genetic polymorphism, K+ channels, Uniparental disomy, Sulfonylureas

Detection of diabetes during neonatal age is very infrequent. Nonetheless early diagnosis is crucial since if not promptly treated with insuline, neonatal diabetes (ND) has a critical course. We report the case of a female neonate, born with birth weight of 1970 g (SGA). The neonate had neither dysmorphic features nor clinical and biochemical evidence of acidosis and ketosis. Hyperglycaemia was not present until the fourteenth day of life when it was first discovered on follow-up. ND is underlined by several different genetic defects that may involve biosynthesis and secretion of insuline as well as control of the number of pancreatic beta-cells during fetal growth. No autoimmune markers are yet found. Genetic pattern is related to the clinical course of ND (transient or permanent) as well as to response to therapy.

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G. Dioguardi, G. Ricciardi, G. Micelisopo, A. Gallo, AM. D’Antonio, M. De Vivo, A. Palermo Segnalazione di un caso di diabete neonatale. Medico e Bambino 2006;25(4):257 https://www.medicoebambino.com/?id=0604_257.pdf


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