Kocaeli Üniversitesi Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları Anabilim Dalı Hematoloji Bilim Dalı Olgu Sunumu 2 Temmuz 2015 Perşembe Ar. Gör. Dr. Zeynep Şahin

PEDİATRİ SABAH TOPLANTISI ÇOCUK HEMATOLOJİ BİLİM DALI

C.A; 11 yaş kız hasta Başvuru tarihi:19/06/2015 Şikayet: İştahsızlık, kilo kaybı, halsizlik Hikaye: Kasım 2014’te karın ağrısı, mide bulantısı şikayetleri nedeniyle yapılan tetkiklerinde AST ve ALT değerleri yüksek bulunmuş. Yapılan batın USG’de karaciğer yağlanması olduğu söylenerek aralıklı olarak tetkikleri tekrarlanmış. Haziran 2015’te özel bir merkezde Ç. Gastroenteroloji takibine alınmış. Karaciğer biopsisi planlanmış, ancak bakılan tam kan sayımında bisitopeni saptanması üzerine hasta tarafımıza gönderildi. Son 7 ayda 5 kg tartı kaybı olmuş.

ÖZGEÇMİŞ: Prenatal öyküde özellik yok. c/s-term-3500 g Polen allerjisi nedeniyle immünoterapi yapılmış.1 yıl önce tamamlanmış, 4 yıl sürmüş. SOYGEÇMİŞ: Akrabalık yok. Anne 33 Yaşında; ss; ev hanımı Baba 35 Yaşında; troid papiller ca nedeniyle opere olmuş ve radyoaktif iyot tedavisi almış. 1. Çocuk: hastamız 2. Çocuk: 7 yaş; kız;ss

Fizik Muayene Ateş: 37,8°C NA: 100/dk TA: 100/70 mmHg SS: 20/dk Boy: 147cm (50-75 p) Tartı: 31,5 kg (10-25 p)

Fizik Muayene GD iyi, kaşektik görünümde, soluk Cilt: Turgor,tonus doğal Baş boyun: Kafa yapısı simetrik. Boyunda kitle ve LAP yok. Gözler: Işık refleksi bilateral mevcut. Pupiller izokorik. Konjonktivalar ve skleralar doğal. Kulak-burun- boğaz: Bilateral kulak zarları doğal. Burun tıkanıklığı, akıntısı yok. Orofarenks ve tonsiller doğal

Fizik Muayene Kardiyovasküler: S1, S2 doğal. S3 yok. Üfürüm yok. AFN her iki alt ekstremitede alınıyor. Kalp tepe atımı 5. interkostal aralıkta. Solunum sistemi: Her iki hemitoraks solunuma eşit katılıyor. Toraks deformitesi yok. Gastrointestinal sistem: Barsak sesleri doğal. Palpasyonla defans, rebound yok. Hepatomegali ve splenomegali yok. Traube alanı açık. Genitoüriner sistem: Haricen kız.

WBCNEUHBPLTASTALT T. Bil/d.bil LDHGGT Kasım , ,5/0, Ocak ,5/0,2 Mart Nisan ,7/0,3 Mayıs ,6/0,2 Hazira n ,2103, ,6/0,2

Patolojik bulgular Kilo kaybı, iştahsızlık, halsizlik 7 aydır devam eden KCFT yüksekliği Sitopeni Tekrarlanan Batın USG’LER: Grade 1-2 hepatosteatoz

AYIRICI TANI VİRAL ENFEKSİYONLAR(EBV, CMV, HEP A, B,C; HIV) WİLSON HASTALIĞI OTOİMMUN HEPATİT KOLLAGEN DOKU HASTALIĞI KEMİK İLİĞİ YETERSİZLİĞİ SENDROMLARI MYELODİSPLASTİK SENDROM MALİGNİTE KEMİK İLİĞİ TUTULUMU İLE GİDEN METABOLİK HASTALIK

LABORATUAR WBC: 1150 /mm3 Pnl: 488/mm^3 Hb: 10,7 g/dL MCV: 71,9 fL Plt: /mm3 Ret: /uL Ret%: 0.47 CRP: 0.1 mg/L ESR: 2 m Periferik yayma: Lenfosit: %58 PNL: %22 Band: %6 Monosit: %8 Atipik: %2 Promyelosit: %2

LABORATUAR Üre: 9 mg/dL Kre: 0,5 mg/dL T.bli: 0,5 mg/dL İ.bli: 0,2 mg/dL AST: 180 U/L ALT: 130 U/L GGT: 91 U/L LDH: 353 U/L T.pro: 5,5 g/dL Alb: 3,4 g/Dl Na: 137 mEq/L K: 4.92 mEq/L Ca: 9,3 mg/dL Mg: 2,47 mg/dL P: 4,5 mg/dL Ürik asit: 1 mg/Dl Viral markerlar: negatif

KEMİK İLİĞİ ASP VE BX: AKUT LENFOBLASTİK LÖSEMİ İLE UYUMLU

Pediatr Blood Cancer.Pediatr Blood Cancer Sep;55(3): doi: /pbc Abnormal liver transaminases and conjugated hyperbilirubinemia at presentation of acute lymphoblastic leukemia. Segal I Segal I 1, Rassekh SR, Bond MC, Senger C, Schreiber RA.Rassekh SRBond MCSenger CSchreiber RA Author information 1 Division of Pediatric Gastroenterology, Department of Pediatrics, British Columbia's Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada. Abstract BACKGROUND: Acute lymphoblastic leukemia (ALL) is the most common malignancy in childhood. While hepatitis is a well-known complication during the treatment phase of ALL, the association of abnormal liver biochemistries at initial presentation of leukemia is poorly described. The aim of this study is to examine the prevalence and assess the clinical impact of hepatitis at diagnosis in children with ALL. PROCEDURE: All children diagnosed with ALL at BC Children's Hospital between 2001 and 2006 were included. Charts were reviewed and data recorded to a computerized spreadsheet. Descriptive statistical analyses were performed. RESULTS: One hundred forty-seven ALL patients were identified. Over one third of patients had abnormal liver transaminase values (AST and/or ALT). Of the patients with abnormal transaminases, (52%) had ALT elevations twice the upper limit of normal. Risk factors for elevated transaminases included a high WBC count at diagnosis, older age, bulky disease, and T-cell leukemia. Conjugated hyperbilirubinemia was observed in 3.4% of subjects. Of these cases, 60% received steroids prior to induction chemotherapy and all had rapid resolution of their hyperbilirubinemia to normal levels. CONCLUSIONS: Elevated transaminases are common at initial presentation of ALL and are likely due to hepatic injury from leukemic infiltrates. Conjugated hyperbilirubinemia at presentation may require treatment modification and dose reduction. A short course of steroids prior to initiation of induction chemotherapy appears to result in rapid resolution of the hyperbilirubinemia with subsequent ability to provide full dosing of induction chemotherapy.

AKUT LÖSEMİLER—KLİNİK Çoğu hastada klinik ve laboratuar bulguları kolayca tanı koydurucu. Ateş, halsizlik, solukluk Lökositoz, anemi, nötropeni, trombositopeni Lenfadenopati, hepatosplenomegali

Prezentasyon atipik ise tanıda gecikme yaşanabilir. Alösemik lösemi: Periferik kanda lösemik hücre bulunmaması.

Cir Cir.Cir Cir Sep-Oct;80(5): [Arthritis: an unusual and anticipatory clinical presentation of pediatric acute lymphoblastic leukemia. A case report]. [Article in Spanish] Duarte-Salazar C Duarte-Salazar C 1, Santillán-Chapa CG, González-Rosado GD, Marín-Arriaga N, Vázquez-Meraz JE.Santillán-Chapa CGGonzález-Rosado GDMarín-Arriaga N Vázquez-Meraz JE See comment in PubMed Commons belowMymensingh Med J.See comment in PubMed Commons belowMymensingh Med J Jan;19(1): Back pain and vertebral compression: an unusual presentation of childhood acute lymphoblastic leukemia. Hafiz MG Hafiz MG 1, Islam A, Siddique R.Islam ASiddique R See comment in PubMed Commons belowAnn Hematol.See comment in PubMed Commons belowAnn Hematol Mar;89(3): doi: /s Epub 2009 Sep 2. Acute lymphoblastic leukemia masquerading as juvenile rheumatoid arthritis: diagnostic pitfall and association with survival. Marwaha RK Marwaha RK 1, Kulkarni KP, Bansal D, Trehan A.Kulkarni KPBansal DTrehan A

Aleukemic leukemia cutis: an unusual rash in a child. Atay D 1, Türkkan E 1, Bölük K 1. Atay DTürkkan EBölük K

Aleukemic Leukemia Cutis in a Child Preceding T-Cell Acute Lymphoblastic

J Hematol Oncol.J Hematol Oncol Jan 24;2:4. doi: / Extramedullary leukemia in children presenting with proptosis. Murthy R Murthy R 1, Vemuganti GK, Honavar SG, Naik M, Reddy V.Vemuganti GKHonavar SGNaik MReddy V

J Periodontol.J Periodontol Oct;74(10): Granulocytic sarcoma of gingiva: an unusual case with aleukemic presentation. Antmen B Antmen B 1, Haytac MC, Sasmaz I, Dogan MC, Ergin M, Tanyeli A.Haytac MCSasmaz IDogan MCErgin MTanyeli A

See comment in PubMed Commons belowBMJ Case Rep.See comment in PubMed Commons belowBMJ Case Rep. 2009;2009. pii: bcr doi: /bcr Epub 2009 Dec 9. Initial presentation of childhood leukaemia with facial palsy: three case reports. Karimi M Karimi M 1, Cohan N, Zareifar S, Inaloo S, Kalikias S, Moslemi S.Cohan NZareifar SInaloo SKalikias SMoslemi S

Pediatr Hematol Oncol.Pediatr Hematol Oncol Sep;30(6): doi: / Epub 2013 Mar 19. Acute lymphoblastic leukemia in early childhood as the presenting sign of ataxia- telangiectasia variant. Bielorai B Bielorai B 1, Fisher T, Waldman D, Lerenthal Y, Nissenkorn A, Tohami T, Marek D, Amariglio N, Toren A.Fisher TWaldman DLerenthal YNissenkorn ATohami TMarek DAmariglio NToren A Author information 1 Department of Pediatric Hematology-Oncology, Safra Children's Hospital, Tel-Hashomer, Ramat-Gan, Israel. Abstract Ataxia-telangiectasia (A-T), an autosomal recessive disorder is characterized by progressive neurodegeneration, immunodeficiency, sensitivity to ionizing radiation, and predisposition to cancer, especially to lymphoid malignancies. A-T variant is characterized by a milder clinical phenotype and is caused by missense or leaky splice site mutations that produce residual ataxia telangiectasia mutated (ATM) kinase activity. Lymphoid malignancy can precede the diagnosis of A-T, particularly in young children with mild neurological symptoms. We studied a consanguineous family with four A-T variant patients, three of them developed T-ALL at a young age before the diagnosis of A-T was established. ATM mutation analysis detected two new missense mutations both within exon 12: c.1514T>C and c.1547T>C. All four patients are homozygous for the two mutations, while their parents are heterozygous for the mutations. ATM protein level was low in all patients and the response to the radiomimetic agent, neocarzinostatin, was reduced. Leukemic presentation in a young age in three members of consanguineous family led to the identification of a new missense mutation in the ATM gene. The diagnosis of A-T or A-T variant should be considered in children with neurological abnormalities who develop T-ALL at a young age.