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

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.
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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
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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
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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
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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.
WBC
NEU
HB
PLT
AST
ALT
T.
Bil/d.bil
LDH
GGT
4280
2110
13,8
252.000
68
107
0,5/0,2
249
20
Ocak
2015
90
135
0,5/0,2
Mart
2015
86
130
Kasım
2014
Nisan
2015
2530
852
12
208.000
99
88
0,7/0,3
Mayıs
2015
2540
599
12
142.000
258
216
0,6/0,2
Hazira
n 2015
1500
470
11,2
103,000
211
193
0,6/0,2
Patolojik bulgular
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Kilo kaybı, iştahsızlık, halsizlik
7 aydır devam eden KCFT yüksekliği
Sitopeni
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Tekrarlanan Batın USG’LER: Grade 1-2 hepatosteatoz
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AYIRICI TANI
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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
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WBC: 1150 /mm3
Pnl: 488/mm^3
Hb: 10,7 g/dL
MCV: 71,9 fL
Plt: 104.000/mm3
Ret: 28 000/uL
Ret%: 0.47
CRP: 0.1 mg/L
ESR: 2 m
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Periferik yayma:
Lenfosit: %58
PNL: %22
Band: %6
Monosit: %8
Atipik: %2
Promyelosit: %2
LABORATUAR
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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
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Ca: 9,3 mg/dL
Mg: 2,47 mg/dL
P: 4,5 mg/dL
Ürik asit: 1 mg/Dl
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Viral markerlar: negatif
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KEMİK İLİĞİ ASP VE BX:
AKUT LENFOBLASTİK LÖSEMİ İLE UYUMLU
Pediatr Blood Cancer. 2010 Sep;55(3):434-9. doi: 10.1002/pbc.22549.
Abnormal liver transaminases and conjugated hyperbilirubinemia at presentation of acute
lymphoblastic leukemia.
Segal I1, Rassekh SR, Bond MC, Senger C, Schreiber RA.
Author information
1Division 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
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Çoğu hastada klinik ve laboratuar bulguları
kolayca tanı koydurucu.
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Ateş, halsizlik, solukluk
Lökositoz, anemi, nötropeni, trombositopeni
Lenfadenopati, hepatosplenomegali
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Prezentasyon atipik ise tanıda gecikme
yaşanabilir.
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Alösemik lösemi: Periferik kanda lösemik
hücre bulunmaması.
Cir Cir. 2012 Sep-Oct;80(5):455-8.
[Arthritis: an unusual and anticipatory clinical presentation of pediatric acute
lymphoblastic leukemia. A case report].
[Article in Spanish]
Duarte-Salazar C1, Santillán-Chapa CG, González-Rosado GD, Marín-Arriaga N,
Vázquez-Meraz JE.
See comment in PubMed Commons belowMymensingh Med J. 2010
Jan;19(1):130-6.
Back pain and vertebral compression: an unusual presentation
of childhood acute lymphoblastic leukemia.
Hafiz MG1, Islam A, Siddique R.
See comment in PubMed Commons belowAnn Hematol. 2010
Mar;89(3):249-54. doi: 10.1007/s00277-009-0826-3. Epub 2009 Sep 2.
Acute lymphoblastic leukemia masquerading as juvenile rheumatoid
arthritis: diagnostic pitfall and association with survival.
Marwaha RK1, Kulkarni KP, Bansal D, Trehan A.
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Aleukemic leukemia cutis: an unusual
rash in a child.
Atay D1, Türkkan E1, Bölük K1.
Aleukemic Leukemia Cutis in a
Child Preceding T-Cell Acute
Lymphoblastic
J Hematol Oncol. 2009 Jan 24;2:4. doi: 10.1186/1756-8722-2-4.
Extramedullary leukemia in children presenting with proptosis.
Murthy R1, Vemuganti GK, Honavar SG, Naik M, Reddy V.
J Periodontol. 2003 Oct;74(10):1514-9.
Granulocytic sarcoma of gingiva: an unusual case with aleukemic
presentation.
Antmen B1, Haytac MC, Sasmaz I, Dogan MC, Ergin M, Tanyeli A.
See comment in PubMed Commons belowBMJ Case Rep. 2009;2009. pii:
bcr10.2008.1046. doi: 10.1136/bcr.10.2008.1046. Epub 2009 Dec 9.
Initial presentation of childhood leukaemia with facial palsy: three case
reports.
Karimi M1, Cohan N, Zareifar S, Inaloo S, Kalikias S, Moslemi S.
Pediatr Hematol Oncol. 2013 Sep;30(6):574-82. doi: 10.3109/08880018.2013.777949. Epub
2013 Mar 19.
Acute lymphoblastic leukemia in early childhood as the presenting sign of ataxiatelangiectasia variant.
Bielorai B1, Fisher T, Waldman D, Lerenthal Y, Nissenkorn A, Tohami T, Marek D, Amariglio
N, Toren A.
Author information
1Department of Pediatric Hematology-Oncology, Safra Children's Hospital, Tel-Hashomer,
Ramat-Gan, Israel. [email protected]
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.