Case report: Aplasia cutis congenita of the scalp with bone defect and an exposed sagittal sinus in a trisomy 13 newborn
Aplasia cutis congenita (ACC) is a heterogeneous disorder with a rarely reported incidence of 0.5–1 in 10,000 births. ACC can be associated with physical defects or syndromes that may help in the diagnosis, prognosis, and further evaluation of the patient. Trisomy 13 is one of the most common fetal...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-03-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2023.1142950/full |
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| author | Faisal Rashed AlMatrafi Ahmad Ayed Al-Shammari Raed Mohamed Al Nefily Rawan Abdulrahman AlAnazi Abdulrahman Hamed Abdulwahab Ahmed Sabry Ammar |
| author_facet | Faisal Rashed AlMatrafi Ahmad Ayed Al-Shammari Raed Mohamed Al Nefily Rawan Abdulrahman AlAnazi Abdulrahman Hamed Abdulwahab Ahmed Sabry Ammar |
| author_sort | Faisal Rashed AlMatrafi |
| collection | DOAJ |
| description | Aplasia cutis congenita (ACC) is a heterogeneous disorder with a rarely reported incidence of 0.5–1 in 10,000 births. ACC can be associated with physical defects or syndromes that may help in the diagnosis, prognosis, and further evaluation of the patient. Trisomy 13 is one of the most common fetal life-limiting diagnoses associated with ACC of membranous-type scalp. The patient was born at 35 weeks of gestation via a cesarean section due to fetal distress. Upon admission to our hospital, her pertinent physical examination revealed a newborn girl with dysmorphic facial features, including widely separated eyes, downward slanting of the palpebral fissure, microphthalmia, retrognathia, and low-set ears. She had an area of loss of scalp skin and skull bone with seen brain tissue and an exposed sagittal sinus that was 6 by 5 cm in size. She had a clenched fist, overlapping fingers, and rocker bottom feet. Precordium auscultation revealed medium-pitched high-grade continuous murmur heard best at the pulmonary position with a harsh machinelike quality that often radiated to the left clavicle. Laboratory investigations include basic labs, and the TORCH screen was negative. On the 9th day of life, a chromosomal analysis showed a female karyotype with three copies of chromosome number 13 (trisomy 13) in all 20 metaphase cell counts. The patient was managed with a moist gauze dressing, topical antibiotic ointment, and povidone-iodine. However, a multidisciplinary team agreed on a do-not-resuscitate (DNR) order with no further surgical intervention as the survival rate of trisomy 13 is poor. In this article, we report a case of aplasia cutis congenita of the scalp with dura and bone defect and an exposed sagittal sinus in a newborn diagnosed with trisomy 13. It emphasizes the importance of ACC-associated syndrome, which has high mortality prior to surgical intervention. |
| first_indexed | 2024-04-09T20:16:02Z |
| format | Article |
| id | doaj.art-0e53b6894b64454ba2b091c16fc5d692 |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-04-09T20:16:02Z |
| publishDate | 2023-03-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-0e53b6894b64454ba2b091c16fc5d6922023-03-31T06:48:57ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602023-03-011110.3389/fped.2023.11429501142950Case report: Aplasia cutis congenita of the scalp with bone defect and an exposed sagittal sinus in a trisomy 13 newbornFaisal Rashed AlMatrafi0Ahmad Ayed Al-Shammari1Raed Mohamed Al Nefily2Rawan Abdulrahman AlAnazi3Abdulrahman Hamed Abdulwahab4Ahmed Sabry Ammar5Department of Neurosurgery, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi ArabiaDepartment of Pediatrics, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi ArabiaDepartment of Pediatrics, King Fahad Hospital of the University, Al-Khobar, Saudi ArabiaDepartment of Familyand Community Medicine, College of Medicine, Imam Abdulrahman bin Faisal University, Dammam, Saudi ArabiaDepartment of Radiology, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi ArabiaDepartment of Neurosurgery, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi ArabiaAplasia cutis congenita (ACC) is a heterogeneous disorder with a rarely reported incidence of 0.5–1 in 10,000 births. ACC can be associated with physical defects or syndromes that may help in the diagnosis, prognosis, and further evaluation of the patient. Trisomy 13 is one of the most common fetal life-limiting diagnoses associated with ACC of membranous-type scalp. The patient was born at 35 weeks of gestation via a cesarean section due to fetal distress. Upon admission to our hospital, her pertinent physical examination revealed a newborn girl with dysmorphic facial features, including widely separated eyes, downward slanting of the palpebral fissure, microphthalmia, retrognathia, and low-set ears. She had an area of loss of scalp skin and skull bone with seen brain tissue and an exposed sagittal sinus that was 6 by 5 cm in size. She had a clenched fist, overlapping fingers, and rocker bottom feet. Precordium auscultation revealed medium-pitched high-grade continuous murmur heard best at the pulmonary position with a harsh machinelike quality that often radiated to the left clavicle. Laboratory investigations include basic labs, and the TORCH screen was negative. On the 9th day of life, a chromosomal analysis showed a female karyotype with three copies of chromosome number 13 (trisomy 13) in all 20 metaphase cell counts. The patient was managed with a moist gauze dressing, topical antibiotic ointment, and povidone-iodine. However, a multidisciplinary team agreed on a do-not-resuscitate (DNR) order with no further surgical intervention as the survival rate of trisomy 13 is poor. In this article, we report a case of aplasia cutis congenita of the scalp with dura and bone defect and an exposed sagittal sinus in a newborn diagnosed with trisomy 13. It emphasizes the importance of ACC-associated syndrome, which has high mortality prior to surgical intervention.https://www.frontiersin.org/articles/10.3389/fped.2023.1142950/fullaplasia cutis congenita (ACC)trisomy 13 syndromebone defectexposed sagittal sinuspatau syndrome |
| spellingShingle | Faisal Rashed AlMatrafi Ahmad Ayed Al-Shammari Raed Mohamed Al Nefily Rawan Abdulrahman AlAnazi Abdulrahman Hamed Abdulwahab Ahmed Sabry Ammar Case report: Aplasia cutis congenita of the scalp with bone defect and an exposed sagittal sinus in a trisomy 13 newborn Frontiers in Pediatrics aplasia cutis congenita (ACC) trisomy 13 syndrome bone defect exposed sagittal sinus patau syndrome |
| title | Case report: Aplasia cutis congenita of the scalp with bone defect and an exposed sagittal sinus in a trisomy 13 newborn |
| title_full | Case report: Aplasia cutis congenita of the scalp with bone defect and an exposed sagittal sinus in a trisomy 13 newborn |
| title_fullStr | Case report: Aplasia cutis congenita of the scalp with bone defect and an exposed sagittal sinus in a trisomy 13 newborn |
| title_full_unstemmed | Case report: Aplasia cutis congenita of the scalp with bone defect and an exposed sagittal sinus in a trisomy 13 newborn |
| title_short | Case report: Aplasia cutis congenita of the scalp with bone defect and an exposed sagittal sinus in a trisomy 13 newborn |
| title_sort | case report aplasia cutis congenita of the scalp with bone defect and an exposed sagittal sinus in a trisomy 13 newborn |
| topic | aplasia cutis congenita (ACC) trisomy 13 syndrome bone defect exposed sagittal sinus patau syndrome |
| url | https://www.frontiersin.org/articles/10.3389/fped.2023.1142950/full |
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