Tiga Kasus Holoprosensefal Alobar Dengan Variasi Gambaran Klinis : Diagnosis Ultrasonografi

Deviana Soraya Riu,(1*) Efendi Lukas,(2)

(1) Maternal Fetal Division, Faculty of Medicine, Hasanuddin University Dr. Wahidin Sudirohusodo General Hospital Makassar, South Sulawesi, Indonesia
(2) Maternal Fetal Division, Faculty of Medicine, Hasanuddin University Dr. Wahidin Sudirohusodo General Hospital Makassar, South Sulawesi, Indonesia
(*) Corresponding Author

Abstract


Holoprosensefal (HPE) adalah spektrum malformasi dengan berbagai hasil luaran. Laporan ini menjelaskan 3 kasus holoprosensefal alobar yang dikonfirmasi saat antenatal dengan pemeriksaan ultrasonografi (USG). Selain gambaran holoprosensefal alobar yang serupa pada ketiga kasus, ditemukan gambaran lain yaitu probosis, siklops, kelainan jantung, dan arteri umbilikalis tunggal. Gambaran klinis yang berbeda adalah preeklamsia, polidaktili, dan mikropenis pada kasus pertama, pada kasus kedua adalah mielomeningokel; dan hidransefal untuk kasus ketiga. Analisis kromosom dilakukan hanya pada kasus kedua dengan hasil berupa translokasi kromosom 3 ke 9 (46 XX, der (9) t(3:9)(p21:q33). Pencitraan menggunakan USG adalah modalitas yang bermanfaat untuk mendeteksi holoprosensefal alobar. Bila skrining dilakukan pada masa usia kehamilan yang tepat maka dapat ditemukan kelainan kongenital mayor letal secara dini, sehingga terminasi kehamilan lebih mudah dengan komplikasi yang lebih minimal.

Three Cases Of Holoprosencephalic Alobar With A Variety Of Clinical
Features: Ultrasound Diagnostic

Abstract
Holoprosencephaly (HPE) is a spectrum of malformations with various outcomes and the most common congenital brain disorder. This report describes 3 cases of alobar holoprosencephaly that were confirmed antenatally by ultrasound examination. Apart from the similar appearance of alobar holoprosencephaly in all three cases, other similar characteristics were proboscis, cyclopia, heart defects, and a single umbilical artery. The different clinical features were maternal preeclampsia, polydactyly, and micropenis in the first case. The different clinical feature in the second case was myelomeningocele; and hydranencephaly for the third case. Chromosome analysis was performed only in the second case with results in the form of translocation of chromosomes 3 to 9 (46 XX, der (9) t(3: 9)(p21: q33).
If the chromosome analysis is limited, ultrasound imaging is beneficial for detecting alobar holoprosencephaly.

Key words: alobar holoprosencephaly, myelomeningocele, hydranencephaly, preeclampsia


Keywords


alobar holoprocencephal, myelomeningocele, hydrancephal, preeclampsia

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DOI: http://dx.doi.org/10.24198/obgynia/v5n1.382

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