ABSTRACT
Esophageal duplications are rare malformations. They account for 15 to 20% of esophageal malformations. Duplications are cystic or, rarely, tubular. The location is thoracic in 95% of the cases. The clinical manifestations are mostly related to compression of the neighboring organs. Treatment is surgical. We report a case of esophageal duplication in a 22-month-old child; the major symptom was congenital stridor. The diagnosis of esophageal duplication was suspected at the chest computed tomography imaging study and confirmed after excision and pathologic examination.
Subject(s)
Esophagus/abnormalities , Respiratory Sounds/etiology , Acute Disease , Consanguinity , Diagnosis, Differential , Echocardiography , Esophagoscopy , Esophagus/diagnostic imaging , Esophagus/pathology , Esophagus/surgery , Female , Heart Failure/etiology , Heart Failure/pathology , Humans , Infant , Tomography, X-Ray Computed , Tracheal Stenosis/congenital , Tracheal Stenosis/diagnostic imaging , Tracheal Stenosis/pathology , Tracheal Stenosis/surgeryABSTRACT
We report 2 familial cases of Gillespie syndrome in an 8-year-old girl and her brother 16 months old. They had both congenital aniridia, cerebellar ataxia and mental retardation. In the girl, pupillar dilation in the 2 eyes and delay in different milestones development were elicited at 2 years. She was summoned at the birth of her brother that had pronounced floppiness and the same ocular abnormalities. Ophtalmological exam confirmed partial and bilateral aniridia in both sibs. Brain MRI showed vermis atrophy in the girl and an hypoplasic inferior vermis in her brother. Apropos of these case reports, we make a brief update about this extremely rare genetic syndrome.
