Guillain-Barré Syndrome (GBS) merupakan suatu kelainan mediator imun dari sistem saraf perifer dimana respon autoimun menjadi aktif dan menargetkan saraf perifer. Patogenesis GBS dipercaya sebagai sebuah respon imun yang abnormal terhadap sebuah kejadian yang terjadi sebelumnya, paling sering didahului oleh suatu infeksi, dan pada sebagian kecil kasus dilaporkan pasca imunisasi terutama untuk pasien anak-anak. Manifestasi klinis GBS berupa kelemahan ekstremitas bilateral progresif yang cepat dan bersifat ascending. Terapi yang masih digunakan dan dianggap efektif untuk saat ini yaitu immunoglobulin intravena (IVIg), dan plasmaferesis. Modalitas terapi baru seperti Interferon-β (IFN-β), Siklofosfamid, dan antibodi monoklonal manusia masih memerlukan penelitian lebih lanjut terkait efektivitas dan efek samping yang bisa terjadi. Prognosis GBS anak didapatkan lebih baik, mortalitas juga ditemukan lebih rendah yaitu sekitar 1-2% pada anak dengan GBS, dan hanya 4% dari seluruh pasien anak yang membutuhkan alat bantu pernapasan selama perawatan.
Apert Syndrome is a rare congenital disorder characterized by a premature sutural fusion that can occur as a single abnormality or associated with other anomalies. Mutations are transmitted in the paternal chromosome, which is why advanced paternal age could be a risk factor. We report a 2-months old baby boy came to the ER with shortness of breath and difficulty in nutrition intake caused by choking at home. Physical examination revealed there was more than one congenital abnormalities exist on this patient, including craniosynostosis, prominent frontal region, mid-face hypoplasia, wide set eyes (hypertelorism), downslanting palpebral fissure, ocular proptosis, low-set ears, dysplasia of both ears, symmetrical syndactyly of both fingers and toes, and cleft palate which is revealed in intra-oral examination. Early diagnosis and intervention from multidisciplinary approach is important in improving the outcome of Apert Syndrome. Keywords: Apert Syndrome, Craniosynostosis, paternal, multidisciplinary
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