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All Journal Journal of the Medical Sciences (Berkala Ilmu Kedokteran) Jurnal Plastik Rekonstruksi
Muhammad Faruk
Department of Surgery, Faculty of Medicine, Hasanuddin University, Makassar
Civil Engineering, Building, Construction & Architecture Immunology & microbiology Neuroscience Other

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Hirschsprung’s disease: epidemiology, diagnosis, and treatment in a retrospective hospital-based study Andi Sinapati Palissei; Ahmadwirawan Ahmadwirawan; Muhammad Faruk
Journal of the Medical Sciences (Berkala Ilmu Kedokteran) Vol 53, No 2 (2021)
Publisher : Journal of the Medical Sciences (Berkala Ilmu Kedokteran)

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (348.266 KB) | DOI: 10.19106/JMedSci005302202103

Abstract

Hirschsprung’s disease (HD), or congenital megacolon, is a disease characterizedby the absence of ganglion cells in the myenteric (Auerbach’s) and submucosal(Meissner’s) plexuses of the intestine, causing maximum obstruction inneonates. The purpose of this study was to investigate patient characteristics,clinical presentation, investigations, surgical treatment, and outcome. Thisstudy is a retrospective study of HD cases. Data obtained from medical recordsat the institution. Of the 109 with a positive rectal biopsy diagnosis, 91 werepatients with this disease. There were more cases in boys than girls with aratio of 1.37: 1. The patients were grouped into 4 age groups: neonates 29 cases(26.61%); infants/toddlers/young children 55 cases (50.46%); children over 5years16 cases (14.69%); and teenagers 9 cases (8.24%). The neonates generallypresented with abdominal distension, green vomiting, and a history of delayedmeconium release, while the toddler, child, and adolescent groups experiencedconstipation and abdominal distension. Furthermore, from 37 patients (33.94%)that got barium enema examination, the most common transition zone wasobserved in the rectosigmoid (17 patients, or 45.9%). In addition, The Duhamelprocedure was the most frequent pull-through procedure found in our cohortwhich was performed in 40 patients (36.70%). In conclusion, HD is mostly foundin male infants/toddlers/young children with abdominal distention and chronicconstipation as common symptoms. The barium enema shows the rectosigmoidas the most common transition zone, while the Duhamel pull-through procedureis the primary definitive operative action performed.
The Management of Cleft Lip and Palate in Four Siblings with Van Der Woude Syndrome in a Developing Country: A Case Report Mendy Hatibie Oley; Maximillian Christian Oley; Yudhaputra Setiadhi; Vania Sukarno; Deborah Florencia Gunawan; Muhammad Faruk
Jurnal Plastik Rekonstruksi Vol. 12 No. 2 (2025): (2025) Jurnal Plastik Rekonstruksi
Publisher : The Lingkar Studi Bedah Plastik Foundation and is affiliated with the Department of Plastic Surgery, Faculty of Medicine, Universitas Indonesia.

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14228/jprjournal.v12i2.26

Abstract

Introduction: Van der Woude syndrome (VWS) is a rare genetic disorder characterized by cleft lip and/or palate and congenital lower lip pits. It is an autosomal dominant condition with high penetrance, affecting 0.5-2% of all cleft lip/palate cases. VWS is caused by mutations in the IRF6 gene and is associated with hypodontia and dental anomalies. Lip pits, which can cause aesthetic or functional problems, may intermittently drain saliva. VWS is diagnosed using genetic testing and bioinformatics tools, providing more accurate predictions. Treatment requires multidisciplinary care, including surgical removal of lip pits and cleft correction. This study describes a rare case of VWS family, including management strategies in low resource settings.Case presentation: A 42-year-old man from a non-consanguineous marriage presented with four out of five children affected by VWS, characterized by cleft lip and palate. All four children underwent labioplasty. The family history revealed no congenital defects in the father's and the first wife’s lineage, except for the second wife.Conclusion: Early identification of familial patterns and clinical presentation is essential in Van der Woude Syndrome, as it significantly impacts the management and quality of life of affected individuals, particularly in resource-limited settings.
Co-Authors Ahmadwirawan Ahmadwirawan Andi Sinapati Palissei Deborah Florencia Gunawan Maximillian Christian Oley Mendy Hatibie Oley Vania Sukarno Yudhaputra Setiadhi