Abstrak Kusta dapat menyebabkan disabilitas permanen yang memengaruhi fisik dan psikis pasien. Stigmadiri dan stigma sosial menyebabkan pasien mengalami dehabilitasi yang dapat menurunkan kualitashidup penyandangnya. Penelitian ini merupakan studi pendahuluan yang bertujuan untuk mendapatkanprofil dehabilitasi pasien kusta termasuk orang yang pernah mengalami kusta (OYPMK). Penelitian inimenggunakan metode potong lintang untuk menilai profil dehabilitasi pasien kusta dan OYPMK menggunakanskala dehabilitasi Anandaraj di RS Kusta Alverno Singkawang, bulan Juli 2019. Delapan puluh delapan subjekdiikutkan dalam penelitian ini. Analisis data dilakukan menggunakan uji Mann Whitney untuk menilai hubungantipe kusta dan derajat dehabilitasi, serta uji Kruskal Wallis untuk melihat hubungan antara reaksi kusta danderajat disabilitas terhadap skala dehabilitasi. Analisis dilakukan menggunakan perangkat lunak SPSS formac. Subjek terbanyak adalah laki-laki, usia produktif, bekerja sebagai petani, berpenghasilan kurang dari 1,5juta per bulan, tidak bersekolah, sudah menikah, etnis Tionghoa, tinggal di dalam rumah yang padat, memilikikeluarga serumah yang menderita kusta, terdiagnosis kusta tipe multibasiler, pernah mengalami reaksi dantelah menyelesaikan pengobatan. Dari penelitian ini didapatkan bahwa tipe kusta dan disabilitas derajat noldan dua berhubungan dengan skala dehabilitasi Anandaraj (p<0.05). Stigma terhadap kusta hingga kinimerupakan masalah yang belum dapat diatasi. Stigma dan disabilitas akibat kusta berperan penting terhadapkejadian dehabilitasi yang menyebabkan penurunan kualitas hidup pasien kusta dan OYPMK. Kata kunci: Anandaraj, dehabilitasi, kusta, Singkawang.   Dehabilitation Profile of Leprosy Patients in Alverno Singkawang Hospital: a Preliminary Study Abstract Leprosy causes permanent disability that affects both physical and psychological aspect of the patient.Self-stigma and social stigma cause dehabilitation; therefore, reducing the quality of life of the patients. Thisresearch is a preliminary study to assess the dehabilitation profile of leprosy patients, including people whohave had leprosy (OYPMK). A cross-sectional method was used to assess the dehabilitation scale of leprosypatients in Alverno Leprosy Hospital, Singkawang, using the Anandaraj dehabilitation scale. Eighty-eightsubjects were included in the analysis. Mann-Whitney test was done to analyze the association betweentype of leprosy and dehabilitation scale, and Kruskal Wallis test was done to analyze the association betweenleprosy reaction and grade of disability with dehabilitation scale. Most subjects are male, productive age,farmers, less than 1.5 million wages per month, uneducated, married, Chinese ethnicity, living in a crowdedhouse, had a family with leprosy, diagnosed with multibacillary leprosy, had an episode of leprosy reaction danreleased from treatment. Type of leprosy and WHO disability grade 0 and 2 are related to the dehabilitationscale. Leprosy stigmatization is still a worrisome problem. Together with the disability, stigmatization affectsthe dehabilitation scale of leprosy patients leading to reduced quality of life. Keywords: Anandaraj, dehabilitation, leprosy, Singkawang.

Angka kejadian hipotiroid kongenital (HK) berkisar 1 : 2000-4000 bayi. Deteksi dan tata laksana dini diperlukan agar fungsi neurologi dan perkembangan pasien optimal. Salah satu penyebab muntah berulang pada bayi adalah hypertrophic pyloric stenosis (HPS). Deteksi dan tata laksana HPS penting karena HPS dapat menyebabkan gagal tumbuh hingga gizi buruk yang berdampak pada IQ. Kasus: Bayi usia 2 bulan tanpa skrining hipotiroid kongenital, masuk ke rumah sakit dengan gejala khas hipotiroid kongenital, yaitu ubun-ubun terbuka, wajah tampak kasar, makroglosia, kulit kering dan dingin, gagal tumbuh, dan hernia umbilikalis. Selain gejala HK, bayi juga memiliki keluhan muntah berulang yang kemudian didiagnosis HPS. Terapi medikamentosa yang tepat dengan levothyroxine, tindakan pembedahan, dan nutrisi yang adekuat harus diberikan agar tumbuh kembang optimal. The incidence of congenital hypothyroidism (CH) is 1 in 2000 to 4000 babies. Screening and early detection are important to improve neurodevelopmental prognosis. Recurrent vomiting in infant can be caused by hypertrophic pyloric stenosis (HPS). Early detection and management is important to prevent growth retardation and malnutrition. Case: A 2-month-old baby, who was not previously screened, presented with features of CH such asopen fontanelle, coarse facial feature, macroglossia, hypothermia, failure to thrive, and umbilical hernia. The infant also has recurrent vomiting due to HPS. Medical treatment with levothyroxine, surgery, and adequate nutrition should be given to ensure optimal growth and development.

<p>Angka kejadian hipotiroid kongenital (HK) berkisar 1 : 2000-4000 bayi. Deteksi dan tata laksana dini diperlukan agar fungsi neurologi dan perkembangan pasien optimal. Salah satu penyebab muntah berulang pada bayi adalah hypertrophic pyloric stenosis (HPS). Deteksi dan tata<br />laksana HPS penting karena HPS dapat menyebabkan gagal tumbuh hingga gizi buruk yang berdampak pada IQ. Kasus: Bayi usia 2 bulan tanpa skrining hipotiroid kongenital, masuk ke rumah sakit dengan gejala khas hipotiroid kongenital, yaitu ubun-ubun terbuka, wajah tampak kasar,<br />makroglosia, kulit kering dan dingin, gagal tumbuh, dan hernia umbilikalis. Selain gejala HK, bayi juga memiliki keluhan muntah berulang yang kemudian didiagnosis HPS. Terapi medikamentosa yang tepat dengan levothyroxine, tindakan pembedahan, dan nutrisi yang adekuat harus<br />diberikan agar tumbuh kembang optimal.</p>

Introduction: Developmental regression is always an alarming symptom in children as it is an early sign of some genetic disorders, one of which is neuronal ceroid lipofuscinosis (NCL). NCL is a group of rare neurodegenerative disorder caused by accumulation of intracellular ceroid lipofuscin. Since 2017 an enzyme replacement therapy (ERT) has been approved by Food and Drug Administration (FDA) for this disease. The symptoms of NCL could be managed by ERT if detected early, and the child could live normally.Case: We present a case of a 6-year-and-5-month-old boy with developmental regression, speech delay, recurrent seizure, and visual impairment, who was diagnosed with NCL type 2 after genetic testing. Compound heterozygous mutations in tripeptidyl-peptidase 1 (TPP1) gene was revealed, consistent with very low level of TPP1 enzyme in this patient.Discussion: NCL is a fatal disease which is often misdiagnosed in early stage. Diagnostic delay of NCL often occurs due to lack of awareness which often leads to premature death.Conclusion: Knowledge regarding the disease is important for early detection and to slow down the disease progression.