TY - JOUR
T1 - Basedow-Graves’ disease in a pediatric patient with Sticlker syndrome, a new endocrine finding to improve personalized treatment
AU - Zampino, Giuseppe
AU - Onesimo, Roberta
AU - De Rose, Cristina
AU - Leoni, Chiara
AU - Salerni, Annabella
AU - Ricci, Daniela
PY - 2020
Y1 - 2020
N2 - Background: Stickler syndrome is a connective tissue disorder with predominantly autosomal dominant inheritance, with ocular, auditory and joint involvement. Thyroid dysfunction was not described as part of alterations in Stickler syndrome and in particular, the association between Stickler’s syndrome and Graves’ disease has never been previously reported in literature. Moreover, the presence of Graves’ disease is uncommon in the pediatric age (especially in children younger than 6 years old). Case presentation: We report the case of a 5-years old child affected by Stickler syndrome who received the diagnosis of Graves’s disease, in absence of suggestive symptoms, during health supervision. Conclusions: This is the first evidence of thyroid dysfunction and autoimmune pattern for Sticker syndrome. Further clinical reports are expected before suggesting the implementation of new clinical skills for Stickler syndrome, but this paper may contribute to improve personalized management of this rare disorder.
AB - Background: Stickler syndrome is a connective tissue disorder with predominantly autosomal dominant inheritance, with ocular, auditory and joint involvement. Thyroid dysfunction was not described as part of alterations in Stickler syndrome and in particular, the association between Stickler’s syndrome and Graves’ disease has never been previously reported in literature. Moreover, the presence of Graves’ disease is uncommon in the pediatric age (especially in children younger than 6 years old). Case presentation: We report the case of a 5-years old child affected by Stickler syndrome who received the diagnosis of Graves’s disease, in absence of suggestive symptoms, during health supervision. Conclusions: This is the first evidence of thyroid dysfunction and autoimmune pattern for Sticker syndrome. Further clinical reports are expected before suggesting the implementation of new clinical skills for Stickler syndrome, but this paper may contribute to improve personalized management of this rare disorder.
KW - Autoimmune disease
KW - Basedow-Graves’s disease
KW - Nutritional assessment
KW - Pediatric disability
KW - Stickler syndrome
KW - Autoimmune disease
KW - Basedow-Graves’s disease
KW - Nutritional assessment
KW - Pediatric disability
KW - Stickler syndrome
UR - http://hdl.handle.net/10807/166759
U2 - 10.1186/s13052-020-00945-x
DO - 10.1186/s13052-020-00945-x
M3 - Article
VL - 46
SP - N/A-N/A
JO - Italian Journal of Pediatrics
JF - Italian Journal of Pediatrics
SN - 1720-8424
ER -