J Pediatr Genet 2020; 09(02): 132-136
DOI: 10.1055/s-0039-1698808
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Familial Sleep Disorders in Unknown Genetic Syndrome

Mara Lelii
1   Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy
,
Elena Baggi
2   Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy
,
Laura Senatore
1   Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy
,
Maria Francesca Bedeschi
2   Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy
,
Robertino Dilena
2   Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy
,
Maria Iascone
3   Medical Genetic Unit, Ospedale Papa Giovanni XXIII, Bergamo, Italy
,
Silvana Gangi
2   Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy
,
Paola Marchisio
1   Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy
,
Maria Francesca Patria
2   Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy
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Publikationsverlauf

25. Juli 2019

09. September 2019

Publikationsdatum:
21. Oktober 2019 (online)

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Abstract

Sleep-disordered breathing (SDB) is common in children, especially in those with congenital or genetic diseases. The factors involved include obstructive sleep apnea, disrupted rapid eye movement sleep, and central hypoventilation. Diagnosing and treating SDB in these children have a positive impact on the quality of life of them and their families, reducing the risk of both further impairment of cognitive abilities and cardiopulmonary complications. We report a familial case of SDB with central hypoventilation, in which identification of the disorder in the younger sister led to the unfortunately late diagnosis and treatment of the same condition in the older sister.