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All Journal JURNAL GIZI INDONESIA Jurnal Kedokteran Diponegoro Jurnal Kesehatan Masyarakat Journal of Biomedicine and Translational Research Paediatrica Indonesiana Jurnal Medika Malahayati Medica Hospitalia PROFESI (Profesional Islam): Media Publikasi Penelitian IPTEK: Jurnal Hasil Pengabdian kepada Masyarakat Sanskara Pendidikan dan Pengajaran Jurnal Bisnis dan Manajemen West Science Prosiding Seminar Nasional dan Call For Paper Kebidanan Universitas Ngudi Waluyo Science Information System and Technology

Rina Pratiwi

Departments Of Pediatrics, Diponegoro University Medical School/Dr. Kariadi Hospital, Semarang, Central Java, Indonesia.

Author-ID : 346401

Agriculture, Biological Sciences & Forestry Arts Humanities Biochemistry, Genetics & Molecular Biology Computer Science & IT Decision Sciences, Operations Research & Management Dentistry Economics, Econometrics & Finance Education Health Professions Immunology & microbiology Languange, Linguistic, Communication & Media Medicine & Pharmacology Nursing Public Health Social Sciences Other

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Prevalensi dan jenis masalah emosional dan perilaku pada anak usia 9-11 tahun dengan perawakan pendek di Kabupaten Brebes Rahmadi, Farid Agung; Hardaningsih, Galuh; Pratiwi, Rina
Jurnal Gizi Indonesia (The Indonesian Journal of Nutrition) Vol 3, No 2 (2015)
Publisher : Department of Nutrition Science, Faculty of Medicine, Universitas Diponegoro

Latar belakang. Diperkirakan prevalensi masalah emosional dan perilaku pada anak adalah sebesar 20%. Terdapat berbagai macam jenis masalah emosional dan perilaku seperti gangguan emosi, gangguan perilaku, hiperaktif, dan masalah dengan teman sebaya. Masalah emosional dan perilaku dipengaruhi oleh multifaktor yang masing-masing dapat berdiri sendiri atau saling mempengaruhi. Nutrisi dan stimulasi yang adekuat sebagai dasar perkembangan anak wajib diberikan secara optimal. Perawakan pendek merupakan salah satu bentuk dari gangguan nutrisi kronik yang dapat menimbulkan berbagai macam masalah emosional dan perilaku pada anak. Mengingat penatalaksanaan masalah emosional dan perilaku tidak dapat dilaksanakan sebelum dilakukannya identifikasi jenis masalah emosional dan perilaku, maka identifkasi jenis masalahÂ emosional dan perilaku penting untuk dilakukan.Tujuan penelitian. Mengetahui prevalensi danÂ jenis masalah emosional dan perilaku yang terjadi pada anak dengan perawakan pendek.Metode penelitian. Merupakan penelitian observasional deskriptif. Penelitian dilakukan di beberapa sekolah dasar di Kabupaten Brebes. Subyek penelitian adalah anak berperawakan pendek umur 9-11 tahun. Variabel yang diteliti adalah masalah emosional dan perilaku pada anak perwakan pendek menggunakan kuesioner SDQ. Hasil Penelitian. Sebanyak 70 anak perawakan pendek terdiri dari 30(42.85%) anak perempuan, dengan rerata umur subyek 121.14Â±6.62 bulan. SubyekÂ dengan nilai total kesulitan abnormal sebanyak 6(8%) dan borderline 28(40%). Skala gangguan emosi abnormal sebanyak 17(24.2%) dan borderline 12(17.1%). Subyek dengan skala masalah perilaku abnormal sebanyak 19(27.1%) dan borderline sebanyak 21(30%). SubyekÂ dengan skor masalah dengan teman sebaya dalam klasifikasi abnormal sebanyak 23(32.8%) dan borderline 18(25.7%).Simpulan. Prevalensi masalah emosional dan perilaku yang terjadi pada anak dengan perawakan pendek lebih tinggi daripada prevalensi masalah emosional dan perilaku pada populasi anak normal. Urutan jenis masalah yang paling tinggi adalah masalah dengan teman sebaya, kemampuan prososial yang kurang, masalah perilaku dan emosi.

Comparison of Very Low Birth Weight Preterm Infants with And Without Experienced Target Weight Gain on The Administration of Human Milk Fortifier Diondra Eka Rizkiawan; Adhie Nur Radityo; Rina Pratiwi; Kusmiyati Tjahjono
Journal of Biomedicine and Translational Research Vol 6, No 3 (2020): December2020
Publisher : Faculty of Medicine, Diponegoro University

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14710/jbtr.v6i3.9061

Background: Human milk fortifier (HMF) is defined as a supplement added to breastmilk to increase calories, proteins, vitamins, and various nutrition of breastmilk. The purpose of HMF administration is to increase the concentration of breastmilk nutrients to improve the weight of very low birth weight preterm infants. The administration of HMF is insufficient to fulfill protein needs in 20-40% very low birth weight babies, thus the weight gain did not meet the expected target.Objective: To analyze characteristic differences between very low birth weight preterm infants who experienced weight gain according to the target and not according to the target on the administration of HMF.Methods: An analytical study with a case-control approach comparing case and control group, which was observed to determine characteristic differences between both groups. The samples were 52 very low birth weight preterm infants obtained by consecutive sampling. Data analysis includes descriptive analysis and hypothesis testing. Results: Data were obtained from medical records and consisted of 52 participants, including 26 very low birth weight premature infants who experienced weight gain according to the target and 26 who experienced weight gain not according to the target. There was no characteristic difference of cyanosis clinical symptoms (OR 2.3; 95% CI 0.51-10.4), chest retraction (OR 1.0; 95% CI 0.32-3.1), apnea of prematurity comorbid (OR 1.0; 95% CI 0.25-3.9), neonatal infections (OR 0.62; 95% CI 0.21-1.9), starting age of HMF administration (OR 0.62; 95% CI 0.21-1.89), bloating (OR 0.57; 95% CI 0.17-1.9), and vomiting (OR 1.18; 95% CI 0.38-3.7) in both groups.Conclusion: There was no characteristic difference between very low birth weight preterm infants who experienced weight gain according to the target and not according to the target on the administration of HMF.

Prognostic factors for success in the Kangaroo Mother Care method for low birth weight babies Rina Pratiwi; Muhammad Sholeh Kosim; Noor Wijayahadi
Paediatrica Indonesiana Vol 55 No 3 (2015): May 2015
Publisher : Indonesian Pediatric Society

Background Low birth weight (LBW) is closely related to neonatal morbidity and mortality. Management of LBW infants in developing countries remains limited, due to the low availability of incubators. The Kangaroo Mother Care (KMC) method has been shown to be effective for newborns, especially LBW infants, in which skin-to-skin contact may be conducive for infantsâ€™ weight gain, thermoregulation, and heart rate stability.Objective To determine the prognostic factors for KMC success in LBW babies.Methods This cohort study included LBW infants at Dr. Kariadi General Government Hospital, Semarang, by a consecutive sampling method. Success of KMC was assessed by infant weight gain, as well as stabilization of temperature, heart rate, and respiration. Prognostic factors for KMC success that we assessed were birth weight, gestational age, KMC duration, age at KMC onset and maternal education level. Statistical analyses used were Chi-square and relative risk (RR) tests.Results Of 40 LBW infants, 24 were successful in KMC. Birth weight â‰¥ 1500 grams (RR 0.4; 95%CI 0.23 to 0.73; P=0.001)], gestational age â‰¥ 34 weeks (RR 0.94; 95%CI 0.46 to 1.89; P=1.00), KMC duration â‰¥ 65 minutes (RR 1.44; 95%CI 0.76 to 2.75; P= 0.215), high maternal education level (RR 1.25; 95%CI 0.76 to 2.04; P=0.408), and age at KMC onset >10 days (RR 2.69; 95%CI 1.14 to 6.32; P=0.003), were factors that related to the successful of KMC.Conclusion Age at KMC onset > 10 days was a prognostic factor for KMC success in low birth weight babies.

Risk factor of growth faltering in infants aged 2-12 months Rina Pratiwi; Adriyan Pramono; Galuh Hardaningsih
Jurnal Gizi Indonesia (The Indonesian Journal of Nutrition) Vol 10, No 1 (2021): December
Publisher : Department of Nutrition Science, Faculty of Medicine, Universitas Diponegoro

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14710/jgi.10.1.72-79

Background: Growth faltering is a condition of growth disturbance that marked by slower growth velocity compared with previous growth chart. Growth faltering can cause effects in immune response, cognitive, & physical and psychomotor disturbance, behavioral disorder, learning problems, higher risk of infection and mortality.Objectives: To analyze risk factor of growth faltering in infant aged 2-12 months.Materials and Methods: A case control study was conducted in Public Health Center in Semarang city. Subject were infants aged 2 until 12 months with growth faltering. Variables were divided to exclusive breastfeeding, mother’s education, mother’s employment, social economic status, infection, mother’s nutrition and gestational age. Anthropometric and questionnaire data were obtained and analyzed among 116 infants. Statistic test used Chi square and multivariate analysis.Results: Chi-square analysis showed that breastfeeding (p=0.016) and gender (p=0.04) had a significant relationship with growth faltering in infant 2-12 months. Under standard parent’s income (p=0.809), Acute Respiratory Tract Infection (ARTI) (p=0.377), diarrhea (p=0.243), mother’s nutrition (p=1.00), gestational age (p=0.77), low mother’s education (p=0.83) and working mother (p=0.26) didn’t have a significant relationship with growth faltering in infant aged 2-12 months. Multivariate analysis showed that gender (p=0.035) and breastfeeding (p=0.019) were the most influencing variable to growth faltering. In 2-6 group, breastfeeding pattern had significant relationship with growth faltering (p=0.77)Conclusions: Breastfeeding and gender were risk factors of growth faltering in infant aged 2-12 months. Further research needed on how to prevent growth faltering in first 1000 days of life so it may avoid stunting in later life.

Stool Examination Profiles in Malnourished Children Nisrina Nur Haniyah; Farid Agung Rahmadi; Amallia Nugettsiana Setyawati; Rina Pratiwi
JURNAL KEDOKTERAN DIPONEGORO (DIPONEGORO MEDICAL JOURNAL) Vol 11, No 4 (2022): JURNAL KEDOKTERAN DIPONEGORO (DIPONEGORO MEDICAL JOURNAL)
Publisher : Faculty of Medicine, Universitas Diponegoro, Semarang, Indonesia

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14710/dmj.v11i3.33248

Background: Stool examination is a gold standard that can be used to detect problems in the disgestive systems, which becomes a preliminary examination to determine a diagnosis. The variation characteristics of stool in malnuorished children are very possible due to the infection in the digestive tract, resulting in impaired absorption of nutrients and other health problems.Objective: To find out the profile of routine feces examination in malnourished children.Methods: This study was descriptive research with a cross-sectional method. This study was conducted from April—August 2021 with a sample size of 38 stunted and malnourished children of 6 month-old to 5-year-old in Rumah Gizi and Poli Anak RSUP Dr. Kariadi Semarang. Collecting the data of anthropometric, quisioners, and laboratorium stool macroscopic and microscopic analytic.Results: Macroscopic examination showed that 13 samples (34.25) had a normal brown color, 35 samples (92.1%) had a soft consistency. Moreover, mucus was found in 6 samples (15.8%). In microscopic examination found that 4 cases (10.5%) were positive for carbohydrates. In 17 cases (44.75), fibers were found. Leukocytes were found in 2 cases (5.2%), erythrocytes were found in 8 cases (21.1%), occult blood was found in 10 cases (26.3%), and fungal positive was found in 14 cases (36.8%).Conclusion: Most of the feces were brown, had soft consistency, did not have mucus and blood. Furthermore, fat, fiber, carbohydrates, leukocytes, erythrocytes, occult bold, and fungal were not found in most of the stools.

Willingness to Receive COVID-19 Vaccination for Children Under Five Years in Jakarta Devia, Mutiara; Utami, Aras; Pramono, Dodik; Pratiwi, Rina
Jurnal Kesehatan Masyarakat Vol 19, No 2 (2023)
Publisher : Department of Public Health, Faculty of Sport Science, Universitas Negeri Semarang

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.15294/kemas.v19i2.42770

Indonesia reached the highest number of deaths caused by COVID-19 in children under five years, and the cases continued to rise to 10.6% in February 2022. Vaccination is an effective way to deal with the COVID-19 pandemic. The risk of its infection in children under five years has been underestimated, and parent’s hesitancy still becomes an obstacle. This study aimed to identify factors associated with willingness to receive COVID-19 vaccination for children under five years among parents based on the Health Belief Model. A cross-sectional study was held in Jakarta from August 1st – 20, 2022. A total of 173 parents with children under five years (0-59 months) were taken using the consecutive sampling method, and data were taken with self-reported online and printed questionnaires. Chi-square bivariate and binary logistic regression multivariate analysis were used to determine the association. Adjusted odds ratios (OR) and 95% confidence intervals (CIs) were presented, and statistical significance was set at p 0.05. Parent’s willingness level to get COVID-19 vaccination for their children was 68.8%. The multivariate analysis revealed that perceived benefit (p=0.045; OR=2.784; 95%CI=1.023-7.579) and cues to action (p0.001; OR= 23.144; 95%CI= 8.577-62.453) were predictors of parent’s willingness to receive COVID-19 vaccine for their children.

PENGARUH RELAKSASI OTOT PROGRESIF TERHADAP STRES KERJA PERAWAT DI INSTALASI BEDAH SENTRAL RSUD RAJA AHMAD TABIB TANJUNGPINANG Pratiwi, Rina; Wardhani, Utari Christya; Wulandari, Yulianti
Jurnal Medika Malahayati Vol 8, No 1 (2024): Volume 8 Nomor 1
Publisher : Universitas Malahayati

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.33024/jmm.v8i1.12723

Abstrak: Pengaruh Relaksasi Otot Progresif Terhadap Stres Kerja Perawat Di Instalasi Bedah Sentral RSUD Raja Ahmad Tabib Tanjungpinang. Survey Persatuan Perawatan Nasional Indonesia (PPNI) tahun 2018 memperlihatkan jika ada 50,9% perawat di rumah sakit yang bekerja di 4 provinsi di Indonesia alami stres kerja. Berdasarkan hasil studi pendahuluan di Ruang Instalasi Bedah Sentral RSUD Raja Ahmad Tabib terhadap 10 perawat dimana didapatkan stress kerja perawat. Tujuan penelitian ini buat mengetahui pengaruh relaksasi otot progresif terhadap stres kerja perawat di Instalasi Bedah Sentral RSUD Raja Ahmad Tabib Tanjungpinang. Metode Penelitian ini Kuantitatif memakai Pre Eksperimental Design dengan kategori satu kelompok (one group pretest posttest design). Sampel berjumlah 22 perawat di ruang Instalasi Bedah Sentral RSUD Raja Ahmad Tabib Tanjungpinang dengan teknik pengambilan sampel ialah total sampling. Data diolah memakai uji Wilcoxon. Sesudah dibagikan terapi relaksasi otot progresif pada perawat Instalasi Bedah Sentral RSUD Raja Ahmad Tabib Tanjungpinang menunjukkan adanya penurunan skor respon stres. Hasil uji analisis menunjukan ada pengaruh ROP terhadap stress kerja perawat dengan selisih rata-rata sebelum serta setelah dilaksanakan ROP ialah -19,65 p value 0,000. Disimpulkan ada pengaruh ROP terhadap stres kerja perawat. Sehingga direkomendasikan kepada tenaga kesehatan khusunya para medis yang mempunyai beban kerja yang sangat berisiko untuk menggunakan terapi ROP dalam kurangi respon stress.

Faktor-faktor yang Berhubungan dengan Pengetahuan Ibu Tentang Pijat Bayi Usia 0-12 Bulan Pratiwi, Rina; Ari Andayani
Prosiding Seminar Nasional dan CFP Kebidanan Universitas Ngudi Waluyo Vol. 2 No. 1 (2023): Prosiding Seminar Nasional dan Call for Paper Kebidanan Universitas Ngudi Waluy
Publisher : Universitas Ngudi Waluyo

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

Infancy is a stage where growth and development occurs very quickly, up to the age of 12 months (Dewi, 2018). According to WHO, 2017, globally around 20-40% of infants aged 0-3 years experience delays in the development process. National data according to the Indonesian Ministry of Health that in 2014, 13% - 18% of children under five in Indonesia experienced growth and development disorders (WHO, 2019). The purpose of this study is to determine the factors related to mother's knowledge about massage for babies aged 0-12 months in Saka Village, Sangkulirang District, East Kalimantan. This type of quantitative research uses a descriptive analytic design with a cross sectional approach. The population in this study were all mothers who had babies 0-12 months as many as 50 people. sampling technique using Accidental Sampling. the majority had good knowledge, there were 36 (72.0%) mothers. While the majority of respondents had received information on infant massage 0-12 months, there were 46 people (92.0%). Based on the level of education, the majority of respondents with higher education (SMA, PT) were 35 (70.0%). Most of the respondents are in late adulthood (26-35 years), namely there are 35 people (70.0%). There is a relationship between knowledge and sources of information (P-value: 0.029 and OR 9.45), education (P-value: 0.000 and OR 66.0 ), and age (P-value: 0.009 and OR 0.181). The conclusion is all variables have a relationship with knowledge of infant massage. Abstrak Masa bayi merupakan tahapan dimana pertumbuhan dan perkembangan terjadi sangat cepat, hingga usia 12 bulan (Dewi, 2018). Menurut WHO, 2017, secara global sekitar 20-40% bayi usia 0-3 tahun mengalami masalah keterlambatan dalam proses perkembangan. Data nasional menurut Kementrian Kesehatan Indonesia bahwa pada tahun 2014, 13%- 18% anak balita di Indonesia mengalami kelainan pertumbuhan dan perkembangan (WHO,2019). Tujuan dari penelitian ini Untuk mengetahui faktor-faktor yang berhubungan dengan pengetahuan ibu tentang pijat bayi usia 0-12 bulan Jenis penelitian kuantitatif menggunakan desain deskriptif analitik dengan pendekatan cross sectional. Populasi pada penelitian ini adalah semua ibu yang mempunyai bayi 0-12 bulan sebanyak 50 orang. teknik pengambilan sampel menggunakan Accidental Sampling. mayoritas berpengetahuan baik ada 36 (72,0%) Ibu. Sedangkan mayoritas responden pernah mendapatkan informasi pijat bayi 0-12 bulan ada 46 orang (92,0%). Berdasarkan tingkat pendidikan mayoritas responden berpendidikan tinggi (SMA, PT) ada 35 (70,0%). Sebagian besar usia responden masuk dewasa akhir (26-35 tahun) yaitu ada 35 orang (70,0%). Ada hubungan pengetahuan dengan sumber infomasi (P-value: 0,029 dan OR 9,45), pendidikan (P-value: 0,000 dan OR 66.0 ), dan umur (P-value: 0,009 dan OR 0,181). seluruh variable terdapat hubungan dengan pengetahuan pijat bayi.

Vitamin D dan paparan sinar matahari untuk mencegah COVID-19. Fakta atau mitos ? Mexitalia, Maria; Susilawati, Martvera; Pratiwi, Rina; Susanto, JC
Medica Hospitalia : Journal of Clinical Medicine Vol. 7 No. 1A (2020): Med Hosp
Publisher : RSUP Dr. Kariadi

Latar Belakang : Paparan sinar matahari pada kulit merupakan cara terbaik untuk sintesis vitamin D. Kadar vitamin D yang adekuat dalam tubuh merupakan proteksi terhadap berbagai penyakit seperti penyakit degeneratif, kanker dan juga infeksi saluran napas. Beberapa penelitian menghubungkan kadar vitamin D yang rendah dengan morbiditas dan mortalitas COVID-19. Hal ini menyebabkan fenomena baru pada masyarakat yaitu kebiasaan berjemur. Tujuan : Artikel ini akan membahas tentang metabolisme vitamin D, peran sinar matahari dalam mengaktifkan vitamin D di dalam tubuh, dan peran vitamin D dalam berbagai penyakit, khususnya mekanisme imunitas untuk COVID-19. Diskusi : Vitamin D meningkatkan kekebalan alami seluler terutama dengan cara menginduksi peptida antimikroba, yang meliputi cathelicidin, LL-37, 1,25-dihdroxyvitamin D dan defensins. Selain itu vitamin D akan meningkatkan sekresi hidrogen peroksida pada sel monosit. Pemberian vitamin D dosis tinggi sebanyak 10.000 IU/hari selama beberapa minggu dilanjutkan 5000 IU/hari bermanfaat untuk mencegah COVID-19, walaupun hasilnya masih memerlukan penelitian lebih lanjut. Absorpsi sinar matahari ke dalam tubuh manusia dipengaruhi oleh warna kulit, penggunaan bahan pakaian dan tabir surya , dan luas pajanan. Paparan sinar matahari sebesar satu Minimal Erythemal Dose (MED) pada orang dewasa dapat meningkatkan konsentrasi vitamin D setara dengan suplementasi 10.000 – 25.000 IU. Penelitian pada bayi yang diberi paparan 3 kali seminggu @ 5 menit pada jam 10.00-14.00, dengan paparan 50% area tubuh selama 2 bulan, mendapatkan kenaikan 25(OH)D sebesar 8,9 ng/mL. Simpulan : Vitamin D yang diaktifkan oleh paparan sinar matahari sangat bermanfaat sebagai proteksi berbagai penyakit termasuk juga pada COVID-19, walaupun efektifitasnya masih memerlukan penelitian lebih lanjut. Kata Kunci : COVID-19, vitamin D, paparan sinar matahari Background : The exposured of sunlight on the skin is the best way for vitamin D synthesis. Adequate vitamin D levels are protection against various diseases such as degenerative diseases, cancer and also respiratory infections. Several studies have linked between low vitamin D levels with COVID-19 morbidity and mortality. This causes a new phenomenon in the community, namely sunbathing. Purpose : This review rearticle will discuss about vitamin D metabolism, the role of sunlight in activating vitamin D in the body, and the role of vitamin D in various diseases, specifically the immune mechanism for COVID-19.Discussion : Vitamin D increases cellular innate immunity mainly by inducing antimicrobial peptides, which include cathelicidin, LL-37, 1,25-dihdroxyvitamin D and defensins, and also increase the secretion of hydrogen peroxide in monocyte cells. The administration of high-dose vitamin D of 10,000 IU / day for several weeks followed by 5000 IU / day is useful to prevent COVID-19, although the results still require further research. The sun exposure to activated vitamin D body is affected by skin color, using of clothing and sunscreen, and area of ??exposure. Sun exposure of one Minimum Erythemal Dose (MED) in adults can increase vitamin D concentrations equivalent to 10,000 - 25,000 IU vitamin D supplementation. Study on infants who were given exposure 3 times a week @ 5 minutes at 10:00 to 14:00, with exposure 50% of body surface area for 2 months, increased 25(OH)D of 8.9 ng/mL. Conclusion : Vitamin D which is activated by sun exposure is very useful as protection for various diseases including COVID-19, although its effectiveness still requires further research. Keywords : vitamin D, sun exposure, COVID-19.

Niemann-Pick disease type A: a case report Mirani, Erna; Pratiwi, Rina; Widyastiti, Nyoman Suci; Ekowati, Liana; Mexitalia, Maria
Medica Hospitalia : Journal of Clinical Medicine Vol. 8 No. 1 (2021): Med Hosp
Publisher : RSUP Dr. Kariadi

BACKGROUND Niemann-Pick disease (NPD) types A result from the deficient activity of sphingomyelinase. NPD type A is characterized by early-onset, progressive neurodegenerative course; systemic disease manifestations, including massive hepatosplenomegaly, interstitial lung disease, and cherry-red macula; and death in early childhood. The objective: to enhance the recognition of health care providers about the potential undiagnosed NPD because nonspecific clinical manifestation CASE PRESENTATION A 18-months-old boy was admitted to Dr. Kariadi Hospital with enlarged abdomen since seventh month old with failure to thrive. He also showed progressive loss of neurologic function, microcephaly with open major fontanelle, recurrent pulmonary and systemic infection. Physical examination revealed facial dysmorphic, milestone regression, under-nutrition, crackles in both lungs, hepatosplenomegaly with petechial in extremities and floppy infants. Laboratory investigations showed anemia (9.4 g/dL) and thrombocytopenia (73.000/mm3). The lactate dehydrogenase (482 U/L) and alkaline phosphatase (159, 03 IU/L) were higher than normal. Abdominal ultrasound revealed hepatomegaly with normal parenchyma and splenomegaly without nodule. Skeletal survey revealed Erlenmeyer flask deformity. Foam cell are detected in bone marrow puncture. Retcam examination showed cherry red spot at the macula. Bera revealed auditory neuropathy. The enzyme activity showed normal ?–Glucosidase (5.55 uM/hr) and chitotriosidase (105,8 nmol/ml) but low sphingomyelinases activity (0.30 uM/hr) which confirmed the diagnosis of NPD. DISCUSSION Niemann-Pick disease (NPD) types A result from the deficient activity of sphingomyelinase. NPD type A is characterized by early-onset, progressive neurodegenerative course; systemic disease manifestations, including massive hepatosplenomegaly, interstitial lung disease, and cherry-red macula; and death in early childhood. Type A is very rare and a severe infantile form with neurologic degeneration resulting in death usually by 3 years of age. No treatment available for type A and It’s a rare disease in Indonesia. CONCLUSION These investigations were able to diagnose this child as a NPD-Type A. Patient was closely monitored and symptomatic treatment was provided.

Co-Authors Adhie Nur Radityo Adhie Nur Radityo Adriyan Pramono Ahlun Ansar Ainil Mardiah Alifiani Hikmah Putranti Amallia Nugettsiana Setyawati Aprilyani, Setya Puspa Dewi Ari Andayani Arismunandar Arismunandar Darmiono, Darmiono Devia, Mutiara Diondra Eka Rizkiawan Dodik Pramono Ekowati, Liana Erna Mirani Farid Agung Rahmadi, Farid Agung Galuh Hardaningsih Galuh Hardaningsih, Galuh JC Susanto Judijanto, Loso Kusmiyati Tjahjono Maria Mexitalia Muhammad Sholeh Kosim Mulyadi Mulyadi Muslimin Muslimin Ningsih, Dewi Ayuh Nisrina Nur Haniyah Noor Wijayahadi Nyoman Suci Widyastiti Puspita Dewi, Wiwik Puspita Sari, Tria Rahmadiana, Rahmadiana Sari, Hastuti Indra Sari, Tri Elina Susilawati, Martvera Tun Paksi Sareharto Utami, Aras Vidya Leliana Wandawari, Andi Wardhani, Utari Christya Yulianti Wulandari

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