en POLSKI
eISSN: 2300-8660
ISSN: 0031-3939
Pediatria Polska - Polish Journal of Paediatrics
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1/2020
vol. 95
 
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abstract:
Case report

Late-presenting congenital diaphragmatic hernia in an infant with tuberous sclerosis – case report and a review of the literature

Marta Komarowska
1
,
Ewa Matuszczak
1
,
Marcin Baran
1
,
Ewa Dzienis-Koronkiewicz
1
,
Adam Hermanowicz
1
,
Wojciech Dębek
1

1.
Department of Paediatric Surgery and Urology, Medical University of Bialystok, Poland
Pediatr Pol 2020; 95 (1): 44–47
Online publish date: 2020/03/31
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Tuberous sclerosis complex (TSC) is a rare, genetic syndrome, which is characterized by the occurrence of small, benign multilocalised hamartomas. The clinical manifestation of the disease is variable, from mild to life threating. This report presents a 9-month-old male baby suffering from TSC, which was diagnosed prenatally. The child was under constant medical, multidisciplinary monitoring. This boy presented skin lesions, hamartomas in the brain and heart, and observation toward hamartoma of the right retina. The infant was admitted to the hospital because of vomiting, fever and cough. Chest X-ray showed left diaphragmatic hernia with mediastinum shift. He underwent thoracoscopic hernia repair. The postoperative period was complicated by a left pneumothorax, atelectasis and pneumonia, but finally the child recovered and remains under ambulatory monitoring. Every pathological symptom must be imaged and diagnosed, despite good general condition.
keywords:

infant, congenital diaphragmatic hernia, tuberous sclerosis complex, radiologic symptoms