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All Journal Bioscientia Medicina : Journal of Biomedicine and Translational Research Open Access Indonesian Journal of Medical Reviews Bioscientia Medicina : Journal of Biomedicine and Translational Research
Putu Siska Suryaningsih
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Biochemistry, Genetics & Molecular Biology Health Professions Immunology & microbiology Medicine & Pharmacology Neuroscience

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Beyond Microcephaly: Semilobar Holoprosencephaly with Marked Macrocephaly due to Severe Congenital Hydrocephalus, Brachycephaly, and Hyponatremia – A Case Report Cynthia Cynthia; Edbert Wielim; Regina Suriadi; Putu Siska Suryaningsih
Open Access Indonesian Journal of Medical Reviews Vol. 5 No. 5 (2025): Open Access Indonesian Journal of Medical Reviews
Publisher : HM Publisher

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.37275/oaijmr.v5i5.768

Abstract

Holoprosencephaly (HPE) is a rare, complex brain malformation arising from incomplete prosencephalon cleavage, typically associated with microcephaly and facial dysmorphism. Coexisting severe hydrocephalus leading to macrocephaly in HPE, particularly the semilobar type, presents a distinct clinical picture. Hyponatremia often complicates neurological conditions involving increased intracranial pressure, potentially worsening prognosis. The aim of this case report is to meticulously describe the clinical presentation, diagnostic evaluation, management approach, and early outcomes of this rare and complex neonatal neurological disorder. A male neonate, born at 35+3 weeks gestation to a mother with severe preeclampsia, presented with marked macrocephaly (head circumference 50 cm), a prominent fontanel, and bilateral sunset eyes. Initial CT scan confirmed hydrocephalus. Subsequent evaluation and a repeat CT scan at one month revealed brachycephaly (cephalic index 98) and semilobar holoprosencephaly. Head circumference progressed to 64 cm by the time of ventriculoperitoneal (VP) shunt surgery at approximately 5 weeks of age. Laboratory investigations showed hyponatremia (120 mEq/L), hyperkalemia, and hypochloremia. At three months, the patient exhibited significant growth and developmental delays and malnutrition. In conclusion, this case highlights an unusual presentation of semilobar HPE characterized by severe congenital hydrocephalus causing marked macrocephaly, rather than microcephaly, complicated by brachycephaly and significant hyponatremia. Early, comprehensive diagnostic evaluation and multidisciplinary management are crucial in such complex neurodevelopmental disorders to address multifaceted challenges and attempt to optimize outcomes.
Risk Factors Affecting Length of Stay in Preterm Infants at Wangaya Regional General Hospital, Indonesia Putri Prashanti, Nyoman Ananda; Kanthi Soraca Widiatmika; Putu Siska Suryaningsih; I Wayan Bikin Suryawan
Bioscientia Medicina : Journal of Biomedicine and Translational Research Vol. 8 No. 1 (2024): Bioscientia Medicina: Journal of Biomedicine & Translational Research
Publisher : HM Publisher

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.37275/bsm.v8i1.907

Abstract

Background: Advances in neonatology have led to many preterm infants being saved. Prolonged length of stay (LOS) increases the incidence of neonatal complications and even mortality, placing a significant economic burden on families and strain on healthcare systems. This study aims to determine the factors associated with LOS in preterm infants. Methods: This cross-sectional study involved 60 preterm babies treated at Wangaya Hospital from May 2022 to May 2023. Infants with congenital anomalies, referred from other hospitals and did not receive appropriate treatment were excluded from the study. Data were taken from the electronic medical record after obtaining ethical clearance and then analyzed using descriptive statistics and linear regression in SPSS 25. Statistical significance was considered at 0.05. Results: As many as 46 out of 60 preterm infants were born at moderate to late preterm gestational age. The majority of 81.7% of infants were born with a body weight of 1500-2499 grams. The median number of LOS was 7.5 days (IQR 15). Multivariate analysis of numerical independent variables obtained an equation log [LOS] = 2.902-0.066*gestational age+ 0.022*duration of parenteral nutrition (R2 = 78.1%). Meanwhile, in the categorical independent variables obtained, an equation log [LOS] = 0.398 + 0.223*very preterm + 0.144* RDS + 0.178*NEC + 0.206*prolonged antibiotics administration + 0.278*late enteral feeding + 0.148*abdominal distension + 0.144*vomiting (R2 = 87.4%). Conclusion: Factors influencing LOS of preterm infants are gestational age, duration of parenteral nutrition, the presence of RDS, NEC, vomiting, abdominal distension, late enteral feeding, and prolonged use of antibiotics. It is essential to carry out antenatal care for pregnant women to prevent premature birth.
Risk Factors Affecting Length of Stay in Preterm Infants at Wangaya Regional General Hospital, Indonesia Putri Prashanti, Nyoman Ananda; Kanthi Soraca Widiatmika; Putu Siska Suryaningsih; I Wayan Bikin Suryawan
Bioscientia Medicina : Journal of Biomedicine and Translational Research Vol. 8 No. 1 (2024): Bioscientia Medicina: Journal of Biomedicine & Translational Research
Publisher : HM Publisher

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.37275/bsm.v8i1.907

Abstract

Background: Advances in neonatology have led to many preterm infants being saved. Prolonged length of stay (LOS) increases the incidence of neonatal complications and even mortality, placing a significant economic burden on families and strain on healthcare systems. This study aims to determine the factors associated with LOS in preterm infants. Methods: This cross-sectional study involved 60 preterm babies treated at Wangaya Hospital from May 2022 to May 2023. Infants with congenital anomalies, referred from other hospitals and did not receive appropriate treatment were excluded from the study. Data were taken from the electronic medical record after obtaining ethical clearance and then analyzed using descriptive statistics and linear regression in SPSS 25. Statistical significance was considered at 0.05. Results: As many as 46 out of 60 preterm infants were born at moderate to late preterm gestational age. The majority of 81.7% of infants were born with a body weight of 1500-2499 grams. The median number of LOS was 7.5 days (IQR 15). Multivariate analysis of numerical independent variables obtained an equation log [LOS] = 2.902-0.066*gestational age+ 0.022*duration of parenteral nutrition (R2 = 78.1%). Meanwhile, in the categorical independent variables obtained, an equation log [LOS] = 0.398 + 0.223*very preterm + 0.144* RDS + 0.178*NEC + 0.206*prolonged antibiotics administration + 0.278*late enteral feeding + 0.148*abdominal distension + 0.144*vomiting (R2 = 87.4%). Conclusion: Factors influencing LOS of preterm infants are gestational age, duration of parenteral nutrition, the presence of RDS, NEC, vomiting, abdominal distension, late enteral feeding, and prolonged use of antibiotics. It is essential to carry out antenatal care for pregnant women to prevent premature birth.
Co-Authors Cynthia Cynthia Edbert Wielim I Wayan Bikin Suryawan Kanthi Soraca Widiatmika Putri Prashanti, Nyoman Ananda Regina Suriadi