Congenital Nasal Pyriform Aperture Stenosis as a Rare Manifestation of Trisome 8 Mosaicsm: A Case Report
CNPAS as a Rare Manifestation of Trisomy 8 Mosaicsm
Abstract
Congenital Nasal Pyriform Aperture Stenosis (CNPAS) is an extremely rare cause of nasal airway obstruction. Clinically, it mimics choanal atresia in neonate. It needs to be differentiated because management differs from each. Pyriform aperture is located at the most anterior part of the nose and is always the narrowest region of the nasal cavity. Therefore, nasal obstruction can easily occur if there is slight decrease in its cross sectional area. CNPAS rarely presents alone. Usually, it arises together with a midline developmental defect such as holoprosencephaly or pituitary defect. We present the first ever reported case of CNPAS, in association with Trisomy 8 Mosaicsm (T8M).
Keywords :
choanal atresia,
Chromosome 8 mosaic trisomy,
Holoprosencephaly,
Mosaicism,
nasal obstruction,
Abstrak
Stenosis bukaan piriform nasal kongenital (CNPAS) adalah penyebab yang amat jarang ditemui untuk kesempitan saluran udara hidung. Secara klinikal, ia menyerupai atresia choanal pada bayi neonate. Ia perlu dibezakan kerana pengurusan kedua-dua penyakit ini adalah berbeza. Bukaan piriform hidung merupakan bahagian yang paling hadapan dan paling sempit di saluran udara hidung. Oleh itu, sekiranya berlaku sedikit kesempitan di kawasan rentas hidung, ia akan menyebabkan hidung tersumbat. CNPAS biasanya dikaitkan dengan kecacatan pembangunan garis tengah seperti kecacatan holoprosensefali atau pituitari. Kami membentangkan kes yang pertama dilaporkan dalam kesusateraan saintifik bahasa Inggeris, CNPAS yang berkaitan dengan Trisomi 8 Mosaicsm (T8M).
Kata Kunci :
choanal atresia,
Halangan hidung,
Holoprosensefali,
Kromosom 8 mozek trisomy,
Mosaicism,
Correspondance Address
Marina Mat Baki, Department of Otorhinolaryngology-Head Neck Surgery, Faculty of Medicine, Universiti Kebangsaan Malaysia Medical Centre, Jalan Yaacob Latif, Bandar Tun Razak, 56000 Cheras, Kuala Lumpur, Malaysia. Tel: +603-91456045 Fax: +603-91456675 E-mail: marinamatbaki@ppukm.ukm.edu.my
