Laporan Kasus Penyakit Scurvy Pada Anak.pptx

Penyakit pada anak - Scurvy

1. arthalgia DD sUSPEK scurvy Pembimbing : Prof. dr. Harsoyo N, DTM&H , Sp.A (K) dr. Wistiani, Msi . Med, Sp.A dr. Galuh Hardaningsih , Msi. Med Sp.A (K) -------

2. KASUS Seorang anak laki-laki usia 5 tahun / Kontrol Poli dengan keluhan tidak dapat berjalan Pasien pertama kali mengeluhkan tidak dapat berjalan . Keluhan didahului dengan riwayat terjatuh dengan posisi jatuh tidak diketahui . Pasien mengeluh kedua kaki nyeri diikuti dengan tidak dapat berdiri dan berjalan , kedua tangan dan kaki kaku . Atas keluhan tersebut , oleh orangtua pasien dibawa ke RS Mitra Keluarga Tegal kemudian disarankan MRI dan didapatkan hasil dalam batas normal. Keluhan tidak disertai dengan gangguan BAK dan BAB, keluhan demam disangkal . Kemudian , pasien dapat berjalan Kembali. 14 Bulan Pasien mengeluh nyeri pada kaki kanan dan kiri . Nyeri dirasakan terus-menerus , terutama apabila digerakkan . Nyeri dirasakan memberat di pagi hari saat bangun tidur . Saat nyeri , persendian kaki teraba hangat . Keluhan nyeri kaki tidak disertai dengan adanya pembengkakan sendi . keluhan tidak didahului terjatuh , demam , batuk , pilek sebelumnya . Awalnya , Kaki masih dapat digerakkan dan masih dapat duduk, tetapi gejalanya semakin memburuk hingga pasien tidak dapat berdiri dan berjalan sama sekali . Terdapat Keluhan sering gusi berdarah tetapi keluhan muncul lebam pada badan disangkal . 7 Bulan

3. KASUS Keluhan nyeri pada kedua kaki semakin memberat dan pasien dirawat inap atas keluhan tersebut . Tidak ada keluhan demam , batuk , pilek . Nafsu makan kurang , BAB 1 kali/24 jam. BB sulit naik sejak 1 tahun yang lalu , 2 bulan yang lalu BB sempat 14 kg. Pasien terdiagnosis TB klinis oleh sejawat 1 minggu yang lalu , sudah mendapatkan obat TB. 1 Bulan Pasien sudah dapat duduk dan dapat menggerakkan kaki bila diminta . Keluhan nyeri muncul bila kaki kanan dan kiri digerakkan secara pasif. 2 Minggu Menurut keluarga berkaitan dengan pola makan pasien , pasien termasuk pilih-pilih makanan . Frekuensi makan 2x/ hari dengan mayoritas berisi nasi dengan kecap tanpa disertai lauk . Kebiasaan makan dengan sayuran atau buah buahan jarang . Pasien ASI eksklusif tetapi setelahnya tidak suka meminum susu. Pasien rutin menimbang berat badan ke Posyandu dan dikatakan berat badan kurang sejak usia 3 tahun . Keluhan nyeri pada kaki kiri dan kanan sudah tidak didapatkan , namun pasien masih belum dapat berdiri . Hari H

4. RIWAYAT PERINATOLOGI Anak lahir dari ibu G2P1A0, usia ibu 37 th , usia kehamilan aterm , BBL 2500 kg, PBL 50 cm, lahir normal, langsung menangis , kuning (-), biru (-) RIWAYAT PE RKEMBANGAN Anak bisa berjalan usia 2 tahun 4 bulan. Saat ini anak tidak bisa berjalan sama sekali . Anak dapat berkomunikasi dengan lancar dan mengerti perintah RIWAYAT ImUNISASI Imunisasi dasar lengkap sesuai usia

5. RIWAYAT PENYAKIT DAHULU - RIWAYAT PE NGOBATAN SEBELUMNYA Ibuprofen 100 mg/8 jam Vitamin A 200.000 IU single dose Asam folat 5 mg hari pertama , selanjutnya 1 mg/24 jam Vitamin B kompleks 1 tab/24 jam RIWAYAT PENYAKIT KELUARGA Tidak terdapat anggota keluarga yang menderita keluhan yang serupa

6. PEMERIKSAAN FISIK Anak laki-laki usia 5 tahun 15 hari BB 10.6 kg TB 98 cm WAZ -2,63SD/HAZ -4,16 SD/BMI - 4,08 SD KU: sadar penuh , tampak gizi buruk HR: 121x/ menit RR: 26 x/ menit TD : 80/50 mmHg ( P50) VAS: Kepala : rambut jarang , tidak kemarahan Mata: Konjungtiva palpebra anemis (-/-), sklera ikterik (-/-) Mulut : oral stomatitis (+), gusi bengkak (-) darah (-), bibir kering pecah-pecah dengan darah mengering. Hidung : nafas cuping (-) Leher : pembesaran nnll (-/-) , distensi vena jugular (-) Thorax: simetris , retraksi (-), iga gambang (-) Pulmo : SD vesikuler +/+, wheezing -/-, ronkhi -/-, pleural rub (-) Cor: bunyi jantung 1-2 normal reguler , bising (-), suara jantung menjauh (-), batas jantung dalam batas normal, ictus cordis normal. Abdomen: supel (+), BU (+) normal, hepar dan lien tak teraba Extremitas : wasting (+) (baggy pants ringan ), Akral dingin (-/-), sianosis (-/-), edema tungkai (-/-)

7. PEMERIKSAAN FISIK Status Lokalis Genu dextra -sinistra : eritem (-), bengkak (-), teraba hangat , functio lesa (+), nyeri (+), ROM terbatas Ankle dextra -sinistra: eritem (-), bengkak (-), teraba hangat , functio lesa (+), nyeri (+), ROM terbatas PGALS (Gait, Arms, Legs, Spine) Gait : tidak dapat berjalan Arm : tidak ada keterbatasan , nyeri (-) Leg : ROM terbatas , tidak dapat berdiri Spine : tidak ada kelainan

8. pemeriksaan penunjang Hematologi 29/09/23 Hemoglobin 10.9 g/dl Hematokrit 36 % Eritrosit 5.30 x 10 6 /ul Leukosit 5.1 x 10 3 /ul Trombosit 151 x 10 3 /ul LED 1 jam 29 /mm LED 2 jam 56 /mm Gambaran darah tepi Eritrosit Sebaran Eritrosit agak longgar Anisositosis sedang ( normositik , mikrositik , beberapa makrositik ) Poikilositosis ringan ( Ovalosit , Eliptosit , Tear drop cell) Trombosit Estimasi jumlah trombosit ringan Didominasi bentuk dan ukuran normal Leukosit Estimasi jumlah leukosit normal Rontgen Genu Kanan -Kiri AP-Lateral (29/09/23) Tampak epiphyseal growth plate belum menutup Tampak opasitas linear pada metafisis os femur kanan kiri membentuk gambaran Frankel line Tampak irregularitas pafa epifisis os femur kanan kiri dan epifisis os tibia kanan kiri Tampak opasitas yang melingkari epifisis os tibia kanan kiri yang membentuk gambaran fat pad sign Tak tampak penyempitan femorotibial joint kanan kiri Tampak joint effusion pada regio genu kanan kiri Kesan : Curiga gambaran scurvy DD/ juvenile idiopathic arthritis

9. pemeriksaan penunjang Rontgen Ankle Joint Kanan -Kiri AP-Oblique (29/09/23) Struktur tulang tampak osteopenia Tampak epiphyseal growth plate belum menutup Tampak sklerotik pada metafisis os tibia kanan kiri Tampak opasitas linier pada metafisis os tibia kanan kiri membentuk gambaran Frankel line Tampak irregularitas pada epifisis os tibia-fibula kanan kiri Tak tampak tissue swelling Tak tampak lusensi soft tissue Kesan : DD/ scurvy, juvenile idiopathic arthritis MRI whole spine dengan kontras (10/10/22) Kesan Tak tampak kelainan pada intra maupan ekstra medulla spinalis Tak tampak fraktur maupun listhesis pada wertebra cervicothorakolumbosacral , taj tampak perubahan intensitas sinyal pada vertebra cervicothorakolumbosacral

10. Trapani S., Rubino C., Indolfi G., Lionetti P. (2022). A Narrative Review on Pediatric Scurvy: The Last Twenty Years. Nutrients 14, 684. https://doi.org/10.3390/nu14030684 T he disease spectrum of scurvy is quite variable, including musculoskeletal, dermatological, dental and systemic manifestations Clinical, laboratory and radiological features of the selected 15 studies describing 166 children with scurvy.

11. Kothari P, Tate A, Adewumi A, Kinlin LM, Ritwik P. The risk for scurvy in children with neurodevelopmental disorders. Spec Care Dentist. 2020 May;40(3):251-259 Kothari et al., 2020

12. Clinical Manifestations Iamopas et al., 2022 The common manifestations were refusal to walk, tenderness, and swelling at the lower extremities Iamopas O, Ratanachu-Ek S, Kaewnimee S. Scurvy in children - A neglected disease? Pediatr Int. 2022 Jan;64(1):e15324. doi : 10.1111/ped.15324. Masci D, Rubino C, Basile M, Indolfi G, Trapani S. When the limp has a dietary cause: A retrospective study on scurvy in a tertiary Italian pediatric hospital. Front Pediatr . 2022 Sep 14;10:981908. doi : 10.3389/fped.2022.981908. Trapani S., Rubino C., Indolfi G., Lionetti P. (2022). A Narrative Review on Pediatric Scurvy: The Last Twenty Years. Nutrients 14, 684 Trapani et al., 2022 The earliest manifestations are nonspecific. Musculoskeletal complaints were the most frequently described manifestations (92%); particularly, severe pain in the lower limbs (88%) with refusal to walk (73%) and limping (31%). These manifestations are present in a high but variable rate of patients with scurvy, ranging from 67% to 100% in the different series. Masci et al., 2022 The study describes the authors’ experience with eight patients. with a median age of 3.7 years (IQR 2.7, range 18 months - 12 years). All patients were admitted for musculoskeletal complaints. A limping gait was present in seven out of eight patients (in patient #8 gait was not assessable since she was unable to walk), with complete refusal to bear weight in five patients (5/8, 62%). Seorang anak laki-laki usia 5 tahun dengan keluhan tidak dapat berjalan

13. Risk Factor Hahn et al., 2019 Chalouhi C, Nicolas N, Vegas N, Matczak S, El Jurdi H, Boddaert N, Abadie V. Scurvy: A New Old Cause of Skeletal Pain in Young Children. Front Pediatr . 2020 Jan 31;8:8. Hahn T., Adam W., Williams, K. Is vitamin C enough? A case report of scurvy in a five-year-old girl and review of the literature.  BMC Pediatr   19 , 74 (2019). Masci D, Rubino C, Basile M, Indolfi G, Trapani S. When the limp has a dietary cause: A retrospective study on scurvy in a tertiary Italian pediatric hospital. Front Pediatr . 2022 Sep 14;10:981908. P ola makan pasien , pasien termasuk pilih-pilih makanan . Frekuensi makan 2x/ hari dengan mayoritas berisi nasi dengan kecap tanpa disertai lauk . Kebiasaan makan dengan sayuran atau buah buahan jarang . Pasien ASI eksklusif tetapi setelahnya tidak suka meminum susu Sixty-one articles describing either a case study or a case series reported on 77 children diagnosed with scurvy as a result of diet insufficiencies 59/77 children  None of these children reportedly consumed vegetables or fruits with a few eating a limited number of proteins. Classical signs of scurvy include gingival lesions together with inflammation, hypertrophy and loosened teeth resulting from bleeding. Oral lesions accentuate anorexia, leading to food selectivity. Chalouhi et al., 2020 MALNUTRITION In all patients (8) an accurate dietary history highlighted restrictive and unbalanced diet, mainly based on carbohydrates. Masci et al., 2022

14. Underweight was also a common problem among the 59/77 children in the existing literature, with 32% being described as underweight. Status Gizi Hahn et al., 2019 It is worth noting that more than a quarter of cases (29%) (48/166) showed severe malnutrition as a concomitant condition Trapani et al., 2022 MALNUTRITION Hahn T., Adam W., Williams, K. Is vitamin C enough? A case report of scurvy in a five-year-old girl and review of the literature.  BMC Pediatr   19 , 74 (2019). Trapani S., Rubino C., Indolfi G., Lionetti P. (2022). A Narrative Review on Pediatric Scurvy: The Last Twenty Years. Nutrients 14, 684

15. Underlying Disease Kothari P, Tate A, Adewumi A, Kinlin LM, Ritwik P. The risk for scurvy in children with neurodevelopmental disorders. Spec Care Dentist. 2020 May;40(3):251-259 Trapani S., Rubino C., Indolfi G., Lionetti P. (2022). A Narrative Review on Pediatric Scurvy: The Last Twenty Years. Nutrients 14, 684 Trapani et al., 2022 The most common comorbidities were neurological conditions such as autism, anorexia, cerebral palsy and developmental delay, altogether described in 29% (48/166). In second place, hematological disorders, including transfusion-related iron overload, bone marrow transplant recipients and chronic graft versus host disease, were found in 14%. Kothari et al., 2020 Anak bisa berjalan usia 2 tahun 4 bulan. Saat ini anak tidak bisa berjalan sama sekali . Anak dapat berkomunikasi dengan lancar dan mengerti perintah Riwayat Perkembangan - Riwayat Penyakit Dahulu

16. Golriz , F., Donnelly, L. F., Devaraj, S., & Krishnamurthy, R. (2016).  Modern American scurvy — experience with vitamin C deficiency at a large children’s hospital. Pediatric Radiology, 47(2), 214–220.  doi:10.1007/s00247-016-3726-4  Pemeriksan Penunjang Golriz et all , 2016 A scorbic acid levels were ordered in 151 children. Of these, 32 were abnormal. The indications for the imaging studies were related to the underlying condition in each child, not the evaluation of potential scurvy. Only three children had imaging of the extremities. The three children who had imaging of the extremities were imaged specifically to evaluate diffuse lower extremity musculoskeletal pain. All three had severe vitamin C All three of these children had radiographs of the knees and MRI of the lower extremities. In these three children the diagnosis of scurvy was not made until after the imaging studies were obtained.

17. Golriz , F., Donnelly, L. F., Devaraj, S., & Krishnamurthy, R. (2016).  Modern American scurvy — experience with vitamin C deficiency at a large children’s hospital. Pediatric Radiology, 47(2), 214–220.  doi:10.1007/s00247-016-3726-4  Pemeriksan Penunjang Golriz et all , 2016 On radiography, all three children had ill-defined sclerotic and lucent metaphyseal bands that were most prominent in the long bones at the knee. The area immediately adjacent to the physis showed a band of increased density consistent with a widened zone of provisional calcification, also known as the Frankel line. wide-field-of-view MR images were obtained of the lower extremities. In all three children there was abnormally increased T2 signal in the marrow cavities of the metaphyses , particularly of the bones adjacent to the knee joint as well as periosteal elevation and edema. X-ray Ankle Joint X-ray Genue Tampak opasitas linear pada metafisis os femur kanan kiri membentuk gambaran Frankel line Tampak opasitas linier pada metafisis os tibia kanan kiri membentuk gambaran Frankel line Struktur tulang tampak osteopenia

18. Kothari P, Tate A, Adewumi A, Kinlin LM, Ritwik P. The risk for scurvy in children with neurodevelopmental disorders. Spec Care Dentist. 2020 May;40(3):251-259 Noordin S, Baloch N, Salat MS, Rashid Memon A, Ahmad T. Skeletal manifestations of scurvy: a case report from dubai . Case Rep Orthop . 2012;2012:624628. doi : 10.1155/2012/624628. Trapani S., Rubino C., Indolfi G., Lionetti P. (2022). A Narrative Review on Pediatric Scurvy: The Last Twenty Years. Nutrients 14, 684 Kothari et al., 2020 A plain X-ray was assessed in 125 patients. Typical alterations were present in most cases. Classic scurvy X-ray signs referred to in most studies were calcification at the metaphysis (lines of Fränkel , 73%), calcification around the epiphysis ( Wimberger ring sign, 41%), osteopenia (31%), metaphyseal spurs ( Pelkan spurs, 18%) and a “scorbutic zone” of a lucent metaphyseal band ( Trümmerfeld zone, 14%). Trapani et al., 2022 The bones of the child with scurvy demonstrate osteopenia. Cortical bone in vitamin C deficiency is characterized by thinning, which is sometimes described as a “pencil-point” cortex. Metaphyseal bone exhibits decreased trabeculae resulting in a decrease in radio-opacity similar to ground glass appearance, as seen in radiographs of our patient. Noordin et al., 2012 X-ray Ankle Joint Struktur tulang tampak osteopenia

19. TERIMA KASIH MOHON ASUPAN