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Santos Susana Franco1, Ramos Helena1, Amets Irañeta2, Carla Conceição3

1- Department of Neonatal Intensive Care, Maternidade Alfredo da Costa.
2- Department of Neurosurgery, Hospital Dona Estefânia
3- Department of Neuroradiology, Hospital Dona Estefânia

BMJ Case Rep. 2016. pii: bcr2016215812. doi: 10.1136/bcr-2016-215812

Introdução: A midline posterior parietal cystic structure - 2×2 cm - was diagnosed in a routine 22-week ultrasonographic scan. It did not appear to have communication through parietal bone or with sutures of the brain compartment. In the 24th week, an MRI was performed, which confirmed the presence of a small subcutaneous formation in the medial line of the parieto-occipital transition, which did not seem to have macroscopic continuity with the cranial compartment. All brain structures were normal, except for vertical embryonic positioning of the straight sinus, so atretic parietal encephalocoele was suspected (figure 1).
Caso: Maternal history: the parents were nonconsanguineous. The mother, aged 29 years, was healthy, with no known history of drugs or alcohol consumption. She had had a normal pregnancy, with folic acid intake in the first trimester. First trimester combined tests performed at 12 weeks of pregnancy were negative. A full-term male neonate was delivered by caesarean section at 39 weeks. His weight was 3030 g with an Apgar index 9/10. A small tumefaction (2×2 cm) was seen in the median line of the parieto-occipital suture. It was covered by skin and hairs, and had a soft consistency (figure 2). This structure was easily depressed and became tense with valsalva manoeuvres. The rest of the physical examination was normal, including neurological examination. An after birth MRI clearly showed an underlying very small bone defect and the definitive diagnosis of posterior interparietal epicranial atretic encephalocoele was made (figure 3). At 2 months, the infant had a surgery performed where the atretic encephalocoele was successfully removed without complications. The histological results confirmed the diagnosis and today the patient is a healthy 9-month old boy.

Palavras Chave: Parietal Encephalocoele; atretic encephalocoele