Hemophilia in the newborn without family history: Pattern of clinical - PDF document

See discussions, stats, and author profiles for this publication at: https://www.researchgate.net/publication/47728306 Hemophilia in the newborn without family history: Pattern of clinical presentation of three patients Article in Vojnosanitetski pregled. Military-medical and pharmaceutical review · October 2010 DOI: 10.2298/VSP1010861K · Source: PubMed CITATIONS READS 0 191 5 authors , including: Borisav Jankovi ć Jelena M Martic Institute for Health Protection of Mother and Child of Serbia Mother and Child Health Care Institute, University of Belgrade, Medical school 39 PUBLICATIONS 216 CITATIONS 17 PUBLICATIONS 53 CITATIONS SEE PROFILE SEE PROFILE Olivera Serbic Mother and Child Health Care Institute of Serbia Dr Vukan Cupic 16 PUBLICATIONS 37 CITATIONS SEE PROFILE Some of the authors of this publication are also working on these related projects: Project of status epilepticus in Mother and Child Health Care Institute of Serbia View project All content following this page was uploaded by Jelena M Martic on 19 October 2015. The user has requested enhancement of the downloaded file.

Volumen 67, Broj 10 VOJNOSANITETSKI PREGLED Strana 861 C A S E R E P O R T UDC: 616-053.2::616.151.5-053.31-07/-08 Hemophilia in the newborn without family history – pattern of clinical presentation of three patients Hemofilija kod novoro đ en č adi sa negativnom porodi č nom anamnezom – klini č ki prikaz tri bolesnika Miloš Kuzmanovi ć , Borisav Jankovi ć , Nada Rašovi ć -Gvozdenovi ć , Jelena Marti ć , Olivera Šerbi ć Institute for Health Care of Mother and Child of Serbia “Dr Vukan Č upi ć ”, Belgrade, Serbia Abstract Apstrakt Introduction. Hemophilia is the most frequently diag- Uvod. Hemofilija je naj č eš ć i uro đ eni poreme ć aj koagula- nosed inborn clotting factor deficiency in the newborn. In cije. Kod oko polovine bolesnika dijagnoza se postavlja u about half of the cases diagnosis is made during neonatal uzrastu novoro đ en č eta. Na č in ispoljavanja hemoragijske period. However, due to different clinical presentation dijateze u prvim nedeljma života razlikuje se od dece sta- comparing to older children, hemophilia in the newborn rijeg uzrasta i može da bude razlog za odloženo postavljnje could be misdiagnosed, especially in the setting of nega- dijagnoze, posebno kod bolesnika sa negativnom porodi č - tive family history. Case report. Clinical features of three nom anamnezom. Prikaz slu č aja. Opisani su klini č ka sli- newborns with negative family history for hemophilia are ka i tok bolesti kod tri novoro đ en č eta sa hemofilijom i ne- described. All three newborns were the first born chil- gativnom porodi č nom anamnezom. Sva tri bolesnika su dren with uneventful perinatal history, and they were re- prvoro đ ena deca sa normalnom perinatalnom anamnezom ferred for investigation of convulsions, soft tissue tumor- koja su upu ć ena na ispitivanje zbog konvulzija, mekotikv- ous mass and sepsis, respectively. Prompt diagnosis of ne mase koja je imponovala kao tumor i sepse. Pravovre- underlying bleeding disorder and adequate substitution mena dijagnoza hemofilije kod ova tri bolesnika omogu ć ila therapy lead to the good outcome in all three boys. Con- je adekvatnu suspstitucionu terapiju, što je dovelo do po- clusion. Symptoms and signs of hemophilia in the new- voljnog ishoda le č enja. Zaklju č ak. Simptomi i znaci he- born could be at time misleading and contribute to de- mofilje kod novoro đ en č eta su ponekada nespecifi č ni i layed treatment. High index of suspicion on inherited mogu da budu razlog za odloženu primenu adekvatne te- bleeding disorder is warranted in every neonate with in- rapije. Naro č ito je zna č ajna pravovremena dijagnostika tracranial bleeding. uro đ enih poreme ć aja hemostaze kod novoro đ en č eta sa intrakranijalnim krvarenjem. Key words: Klju č ne re č i: hemophilia A; neonatology; diagnosis, differential; hemofilija; neonatologija; dijagnoza, diferencijalna; factor VIII. faktor VIII. Introduction than bleeding disorders, and to discuss possible pitfalls of unrecognized hemophilia. Hemophilia is the most frequent inherited bleeding dis- order diagnosed in the newborn. Clinical presentation in Case reports newborns is different compared to toddlers and older chil- dren, and in the absence of positive family history could re- First case described a nine days old boy who was re- sult in delayed diagnosis and treatment 1 . ferred for surgical management of a tumor in the left gluteal The aim of this paper is to present clinical findings of area. He was the first child of healthy unrelated parents and uneventful pregnancy. In the 3 rd and 4 th day of life he was three newborns with hemophilia A referred to a tertiary pedi- atric centre for evaluation of pathological conditions other treated with phototherapy for physiological jaundice in the Correspondence to: Miloš Kuzmanovi ć , Institut za zdravstvenu zaštitu majke i deteta Srbije “Dr Vukan Č upi ć ”, Radoja Daki ć a 6, 11070 Novi Beograd, Srbija. Tel/fax: +381 11 3108 245. E mail: milos@vektor.net

Strana 862 VOJNOSANITETSKI PREGLED Volumen 67, Broj 10 regional hospital. Physical examination was normal except for the finding of a tumor in the left gluteal area. While ob- taining blood samples for bilirubin levels, prolonged bleed- ing was observed at the venepuncuture site, but hemostasis was not evaluated. On admission to our ward he was in a good general condition, with a palpable tumor in the left gluteus. Ultrasound revealed a mass with irregular borders, measuring 4 × 4 cm. This finding was also confirmed on computerized tomography (CT). He had hemoglobin of 143 g/L, red blood cell count (RBC) 3.98 × 10 9 /L, and hemostatic test showed an prolonged activated partial thromboplastin time (aPTT) of 76.1 seconds (reference range 25–35 sec- onds). Coagulation factors assay revealed severe deficiency of FVIII (0.96 IU/mL). With regular substitution therapy the large gluteal tumor started to decrease. Due to a fast resolu- tion on substitution treatment we concluded that it was a large intramuscular heamatoma. Fig. 2 – Computerized tomography of intracranial hema- Second case described a three-week-old boy admitted to toma in the second patient the intensive care unit because of seizures. On the day of admission his parents noticed on two occasions involuntary movements of the right hand and right facial muscules. He coagulation factors showed marked deficiency of FVIII (1 was the firstborn child of healthy unrelated parents with a IU/mL). On immediate substitution of FVIII hematoma did negative family history for inherited diseases. Labor was un- not enlarge, but his level of consciousness was severely de- eventful and after birth he received intramusculary vitamin pressed. FVIII was given to achieve levels of 100% and after K, and was immunized against hepatitis B and tuberculosis, three days of conservative management evacuation of he- without complications. Also, after birth, hematoma on the matoma was performed under FVIII cover; the postoperative upper right eyelid was noticed (Figure 1). At home, for the course was uneventful and 100% level of FVIII was main- next three weeks, there were no concerns. He gained the ex- tained for fourteen days. He was discharged with phenobar- pected weight and his behavior was normal. The hematoma bital and has received secondary prophylaxis with 50 μ /kg of on eyelid remained static. FVIII weekly. Third case described a two days old newborn who was referred for investigation of disturbed general condition and suspected sepsis. He was the first child with negative family history for bleeding disorders and other inherited diseases and uneventful labor. He had hematoma on the right heel due to blood sampling for Guthrie test, multiple large hematomas at the sites of venepuncture (Figure 3) and large cephalhe- matomas. On admission he had severe anemia with a hemo- globin level of 82 g/L and RBC 2.2 × 10 9 /L. Hemostatic tests revealed a normal PT with prolonged aPTT of 82.4 seconds (reference range 25–35 seconds). Severe anemia and poor general condition with widespread hematomas initially raised suspicion on disseminated intravascular coagulation (DIC). However, platelet count and fibrinogen level were in the normal range. Level of FVIII was 0.8 IU/mL and the diagno- sis of hemophilia was established. Fig. 1 – Eyelid heamtoma in the second patient with intrac- ranial bleeding Seizures were treated with phenobarbital. Blood counts showed normochromic anemia of hemoglobin level 93 g/L and RBC 3.1 × 10 9 /L. Cranial ultrasound revealed large in- tracerebral hematoma in the right occipital lobe, and the CT confirmed the diagnosis, and revealed extension of the hem- orrhage in the ventricles (Figure 2). Coagulation studies re- vealed normal prothrombine time (PT), with prolonged aPTT Fig. 3 – Large hematomas at the venepuncture site in the of 79.1 seconds (reference range 25–35 seconds). Assay of third patient Kuzmanovi ć M, et al. Vojnosanit Pregl 2010; 67(10): 861–863.