Browsing by Author "Tenente, Joana"
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- Dermatology clinical casePublication . Leitão, Cátia; Pereira, Isabel; Tenente, Joana; Vila-Real, Marta; Oliveira, Ana; Leite, Ana LuísaIncontinentia pigmenti is an X-linked neuroectodermal dysplasia. It is a rare genetic disease with multiorgan involvement, and hence a multidisciplinary approach is of paramount importance. Although diagnosis is based on clinical findings, genetic molecular testing can be performed to confirm diagnosis and allow future genetic counselling. The authors describe the case of a 4-month-old girl accidentally diagnosed with incontinentia pigmenti following routine physical examination in the Emergency Department. Timely diagnosis enabled appropriate multidisciplinary approach and follow-up.
- Neonatal cranial bone depressionPublication . Tenente, Joana; Cardoso, Ivana; Vinhas da Silva, António; Torres, JacintoA female preterm was admitted to the Neonatal Intensive Care Unit for late prematurity and very low weight. The physical examination was normal. On the third day of life, a hard left, non-painful parietal depression was noted, with no evidence of neurological impairment. Head computed tomography (CT) showed focal sinking of the left parietal bone posteriorly to the coronal suture. A watchful attitude was adopted and the patient was discharged on day 28. The diagnosis was a “ping-pong fracture”, which can occur iatrogenically or spontaneously in uterus. This diagnosis can be confirmed by x-ray or CT scan and the prognosis is usually good, with complete deformity regression. At two months, the parietal fracture was barely perceptible, and neurological examination was normal.