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Washington University Experience | DEVELOPMENTAL MALFORMATIONS | Encephalocele | 30A0 Case 30 History
Case 30 History ---- The patient was a former 30-week estimated gestational age male. An ultrasound demonstrated polyhydramnios and multiple midline defects including esophageal atresia, cleft palate, imperforate anus, absence of the nasal septum and encephalocele. Secondary to intractable labor progression the patient was delivered by C-section. At delivery, the patient did not cry and had an initial heart rate between 60 and 70. A cardiac echo demonstrated D-transposition of the great arteries and other cardiac developmental defects. There was an approximately 5 cm encephalocele noted on the posterior aspect of the skull. Cytogenetics showed an interstitial deletion on the long arm of chromosome 2 at q31.2 (200Kb) and an interstitial duplication of chromosome 22 at q11.21 (5.549 Mb). A T1-weighted hyperintensity in the basal ganglia and deep white matter were thought likely related to hypoxic ischemic injury, and a subependymal hemorrhage. Multiple facial anomalies including cleft lip, cleft palate, lack of normal nasal cavity and paranasal sinuses, underdeveloped orbits, and absence of normal globes were also described. Given the abnormalities, prematurity as well as the clinical condition of the infant, the family redirected care and the patient died 2 days after birth. ----
At autopsy the weight of the unfixed brain is 174 g (normal for age = 163 g).
