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Exploring Joubert Syndrome: A Rare Case Study from Indonesia Siswanto, Johanes Edy; Tasmina; Prayudijanto, Muhammad I.; Daniswara, Boromeus A.; Pamungkas, Christophorus A. S.; Pratanu, Lydia
Medicinus Vol. 14 No. 2 (2025): February
Publisher : Fakultas Kedokteran Universitas Pelita Harapan

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.19166/med.v14i2.9554

Abstract

Background: Joubert Syndrome is a rare autosomal recessive disorder characterized by midbrain-hindbrain malformation and multisystem involvement. This study aims to present a detailed case of Joubert Syndrome from Indonesia, emphasizing clinical presentation, diagnostic challenges, and management strategies in a resource-limited setting. Methods: This descriptive case study examines a newborn female referred for breathing difficulties and a skull tumor present since birth. Data were collected through clinical evaluations, imaging studies, laboratory tests, genetic analysis, and multidisciplinary consultations. A literature review was conducted to compare the findings with global data. Result: The first case involved a female infant with hydrocephalus, a posterior skull mass, and microcornea. Echocardiography showed a patent foramen ovale, while genetic analysis confirmed a normal 46,XX karyotype. The second case featured a male infant with posterior meningocele, seizures, and retinal dystrophy. EEG confirmed subclinical seizures, and genetic testing identified pathogenic TMEM237 mutations consistent with Joubert Syndrome type 14. Both infants received respiratory support, antibiotics, and targeted treatments, resulting in significant clinical improvement. Conclusions: These cases highlight the importance of multidisciplinary care and genetic testing in Joubert Syndrome diagnosis and management. Early recognition, advanced diagnostics, and consistent follow-up are crucial for optimizing outcomes, particularly in resource-limited settings.
Cryotherapy and balloon dilatation for subglottic stenosis in a neonate: a case report Siswanto, Johanes Edy; Akira Prayudijanto; Muhammad I. Prayudijanto; David D. Putra; Istifa Amalia; Rifan Fauzie; Christophorus AS Pamungkas
Indonesian Journal of Biomedicine and Clinical Sciences Vol 57 No 1 (2025)
Publisher : Published by Universitas Gadjah Mada

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.22146/inajbcs.v57i1.12718

Abstract

Cryotherapy and balloon dilatation are combined treatments for subglottic stenosis (SGS) in newborns. Cryotherapy involves freezing the affected area with extremely low temperatures, which can result in tissue destruction. Balloon dilatation is a technique in which a balloon is inflated in the narrow subglottic area to widen the airway. We reported a case of SGS in a neonate who was treated with a combination of cryotherapy and balloon dilatation to contribute to the growing body of evidence of the therapy and provide information for clinicians in the care of the vulnerable patients. A 22-day-old female baby, who weighed 2,600 gr at birth, was transferred to our hospital from another facility. We conducted cryotherapy on the granulation tissue area until it was released, then inflated the balloon for 5 cycles (30 sec each) with a pressure of 5-6 atm. After cryotherapy and balloon dilatation, the patient was examined using direct laryngoscopy, which revealed subglottic stenosis up to 9.5 cm from the outer border of the mouth. To maintain airway patency for the next 24 hr, the patient was intubated with an endotracheal tube number 3.5. The patient's condition improved after this intervention, and they no longer required oxygen therapy support. The patient was discharged without the need for supported oxygen. In conclusion, to manage the challenges associated with post-intubation subglottic stenosis (PI-SGS), a comprehensive approach that includes a reliable referral system, thorough bronchoscopy training, and a multi-disciplinary team is essential.
The effect of the BLUI blanket on the reduction of bilirubin levels in neonatal jaundice: a preliminary clinical study Fadilah, Tubagus Ferdi; Adisasmita, Asri C.; Ascobat, Purwantyastuti; Siswanto, Johanes Edy; Koestoer, Raldi Artono; Susianti, Yanti; Irwan, Hermansyah; Gunarsih, Arum; Heryana, Ade
Paediatrica Indonesiana Vol. 65 No. 3 (2025): May 2025
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14238/pi65.3.2025.245-52

Abstract

Background Neonatal jaundice is a prevalent condition in newborns, characterized by elevated bilirubin levels. Conventional phototherapy treatments for neonatal jaundice typically require hospital admission, separation from mothers, and may interfere with breastfeeding and bonding. The Blue Light Universitas Indonesia (BLUI) LED phototherapy blanket was developed to address these limitations by providing a portable, home-based alternative that maintains mother-infant contact while delivering effective therapy. Objective To evaluate the efficacy of the Blue Light Universitas Indonesia (BLUI) LED phototherapy blanket in reducing bilirubin levels in infants with physiological jaundice. Methods A preliminary study was conducted from December 2022 to February 2023, involved 14 infants with physiological jaundice at Hermina Hospital Ciputat, Sariasih Hospital Ciputat, and the General Hospital of South Tangerang. The inclusion criteria were infants with physiological jaundice, gestational age ≥35 weeks, and birth weight ≥2,000 grams. The dependent variable was the reduction in total serum bilirubin levels, assessed by spectrophotometry. Paired sample T-test was used to compare bilirubin levels before and 24 hours after intervention with the BLUI Blanket. Results The study included 14 infants, with a mean age of 6.86 days and mean gestational age of 37.71 weeks. The BLUI Blanket demonstrated a mean bilirubin reduction of 3.11 mg/dL after 24 hours of continuous treatment, with a 19.02% decrease. The intervention was well-tolerated, with minimal adverse effects, such as maculopapular skin rash occurring in only one infant. Conclusion The BLUI Blanket is an effective and safe phototherapy device for reducing bilirubin levels in infants with physiological jaundice. This preliminary study supports further research to confirm these findings in larger populations.
Characteristic and Survival Analysis of Infants with Critical Congenital Heart Disease Talib, Suprohaita Rusdi; Siswanto, Johanes Edy; Djer, Mulyadi M; Safanta, Nurzalia; Nurhakiki, Syifa; Taufiqurahman, Khobir Abdul Karim; Adisasmita, Asri
Kesmas Vol. 20, No. 1
Publisher : UI Scholars Hub

Show Abstract | Download Original | Original Source | Check in Google Scholar

Abstract

Congenital heart disease (CHD) is a major health concern worldwide. This study focused on survival analysis and the factors influencing survival in infants with critical congenital heart disease (CCHD). A total of 79 infants diagnosed with CCHD were identified, with 48.1% (n=38) exhibiting duct-dependent pulmonary circulation, 35.6% (n=28) exhibiting duct-dependent systemic circulation, 6.3% (n=5) exhibiting critical non-duct-dependent, and 10.2% (n=8) exhibiting parallel circulation issues. Of the infants studied, 55.7% (n=44) were male, 78.5% (n=62) had a gestational age of ≥37 weeks, 62% (n=49) had a birth weight of ≥2,500 grams, 59.5% (n=47) exhibited normal fetal growth, 93.7% (n=74) experienced no asphyxia, 91.1% (n=72) had no other congenital disabilities, 87.3% (n=69) had no history of fetal distress, 58.2% (n=46) maintained normal oxygen saturation, and 88.6% (n=70) had an extended stay in the neonatal intensive care unit. The survival analysis indicated that the prognosis of newborns with CCHD was markedly affected by gestational age, birth weight, desaturation, respiratory distress, and hereditary abnormalities. Additional study is required to assess the risk factors influencing the survival of newborns with CCHD.