An atypical presentation of hemophilia in an infant: A diagnostic dilemma in a resource-constrained setting

Ibrahim Aliyu; Zainab F Ibrahim

doi:10.4103/mjmsr.MJMSR_63_16

CASE REPORT

Year : 2017 | Volume : 8 | Issue : 2 | Page : 88-90

An atypical presentation of hemophilia in an infant: A diagnostic dilemma in a resource-constrained setting

Ibrahim Aliyu¹, Zainab F Ibrahim²
¹ Department of Paediatrics, Aminu Kano Teaching Hospital/Bayero University, Kano, Nigeria
² Department of Nursing, Aminu Kano Teaching Hospital, Kano, Nigeria

Date of Web Publication

7-Aug-2017

Correspondence Address:
Zainab F Ibrahim
Department of Paediatrics, Aminu Kano Teaching Hospital/Bayero University, Kano
Nigeria

Source of Support: None, Conflict of Interest: None

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DOI: 10.4103/mjmsr.MJMSR_63_16

Abstract

Hemophilia is one of the most common inherited disorders. There are mainly two types: hemophilia A and B. They are both X-linked disorders; therefore, they are mostly expressed in male patients. Common forms of presentation are bleeding from trauma site, following circumcision, and into joints. However, a case of a 7-month-old male child who presented with severe anemia and febrile illness that was treated for severe malaria is reported, but further review revealed a right axillary hematoma, and his clotting studies showed prolonged activated partial thromboplastin time, and therefore the diagnosis of hemophilia was made.

Keywords: Axillary hematoma, febrile illness, hemophilia, male child

How to cite this article:
Aliyu I, Ibrahim ZF. An atypical presentation of hemophilia in an infant: A diagnostic dilemma in a resource-constrained setting. Muller J Med Sci Res 2017;8:88-90

How to cite this URL:
Aliyu I, Ibrahim ZF. An atypical presentation of hemophilia in an infant: A diagnostic dilemma in a resource-constrained setting. Muller J Med Sci Res [serial online] 2017 [cited 2023 Mar 21];8:88-90. Available from: https://www.mjmsr.net/text.asp?2017/8/2/88/212417

Introduction

Hemophilia is one of the most common and early documented bleeding disorders in the literature. This dates back to the 2^nd century in Jewish literature.^[1] It is a X-linked genetic disorder and is therefore manifested mostly among affected males; however, acquired forms have been associated with autoimmune disorders such as ulcerative colitis, cancer, and psoriasis.^[2] Hemophilia is classified into Type A, which is due to deficiency of factor VIII, and Type B – Christmas disease – which is due to deficiency of factor IX. The hallmark of hemophilia is bleeding; the site of bleeding varies with the age and activity of the child; in the newborn, bleeding commonly occurs as cephallohematoma following difficult delivery and intracranial bleeding;^[3] as toddlers with mobility, bleeding could occur from injury sites and into joints,^[4] and following circumcision (in cultures where it is done late in childhood – such as ours),^[5] from surgical procedures such as tooth extraction;^[4] however, cases of massive spontaneous truncal intradermal bleeding presenting with jaundice and loss of consciousness is a rarity.

Case Report

A 7-month-old male child presented with yellowness of the eyes, pale extremities, generalized tonic-clonic convulsions, and loss of consciousness. These were noticed 24 h before presentation. He had febrile illness a week before presentation which had been resolved. On examination, he was diagnosed with jaundice, pale extremities, and was unconscious. He was also dyspneic and tachypneic with displaced cardiac apex beat (5^th left intercostal space anterior axillary line); he had 1^st, 2^nd, and 3^rd heart sounds and ejection systolic murmur. There was hepatomegaly, and he was not circumcised. The diagnosis was then severe malarial anemia in heart failure. The packed cell volume was 15%, malaria parasite test was positive, and the hemoglobin genotype was AA. The platelet and full blood counts were not remarkable. Urinalysis was negative for bilirubin, and the liver function test was not remarkable except for the elevated serum bilirubin which was predominantly unconjugated bilirubin. The chest X-ray showed soft-tissue swelling of the right axillary region and cardiomegaly [Figure 1]. He was transfused with packed cells and had treatment for severe malaria. On subsequent review, a swelling was noticed on the right axillary region measuring about 5 cm × 5 cm [Figure 2], which progressively darkened, and was described as a hematoma. Therefore, the clotting profile was requested which showed prolongation of the activated partial thromboplastin time (APTT) (55 s) while prothrombin time was normal. Both transfontanel ultrasound and brain computed tomography scans were not remarkable. Therefore, the diagnosis of hemophilia was made. However, the factor VIII or IX assay could not be done due to nonavailability of the test in our setting. He had factor VIII concentrate replacement therapy; the swelling however stabilized and subsequently regressed. He improved and was discharged home; at follow-up visit, he had no reported complication.

Figure 1: Chest X-ray showing the right axillary soft-tissue swelling and cardiomegaly

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Figure 2: Hematoma of the right axillary region

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Discussion

Hemophilia is one of the most common hereditary bleeding disorders; it may occur following spontaneous mutation (in the F8 gene located on the X-chromosome that codes for factor VIII) in about 33% of cases;^[6] therefore, this may pose a great treatment and diagnostic challenge in a resource-constrained setting, where there are no facilities to assay for the deficient or defective factors. Therefore, a typical history of prolonged bleeding from injury site such as following circumcision in a male child is often the clue to the diagnosis and this will be further buttressed by their response to factor VIII concentrate replacement therapy. Cases of unusual presentation in the literature are few. De Luca et al.^[7] reported two cases of unusual presentation in a female with a neck hematoma and in a male infant with intracranial hematoma who presented with convulsion; although the index case also had seizures, he was attributed to hypoxia (hypoxic encephalopathy) because the transfontanel ultrasound and brain computed tomography were reported as free of any intracranial bleed. Similarly, Hart et al.^[8] reported a case of massive intradermal bleeding with jaundice in a second twin neonate with hemophilia following a difficult delivery which might had been traumatic, but our case was spontaneous which means there could had been more deficiency of factor VIII in the index case if the assay had been done. Furthermore, other diseases may be associated with subcutaneous swelling in hemophiliacs. This was documented by Sakurai et al.,^[9] who reported a superficial fibromatosis in a 16-year-old boy who initially had a sprained ankle with bleeding. Other unusual presentations of hemophilia are those reported by Abuzayed et al.^[10] and Kahraman et al.^[11] in patients with chronic subdural hematoma.

In addition, the possibility of Von Willebrand disease (VWD) was also entertained; however, limited laboratory studies were a huge hindrance in establishing this diagnosis and scrutinizing the clinical history and clinical response to treatment made it unlikely. Von Willebrand factor (VWF) in addition to other functions such as attaching and stabilizing platelet plug at the site of injury also serves as a transport protein for factor VIII; therefore, deficiency of VWF may result in decreased plasma concentration of factor VIII, therefore mimicking hemophilia, be that as it may, an isolated replacement with factor VIII will not correct the deficient VWF; in Type 1 VWD which is the most common and at most times with mild clinical presentation, response to desmopressin which raises the plasma VWF and factor VIII has been documented,^[12] and therefore the significant response to factor VIII concentrate replacement alone in the index case made VWD unlikely.

Finally, anti-phospholipid antibody, other factor deficiencies (and the presence of their inhibitors) such as factor IX, XI, XII, and the use of heparin^[13] may cause prolong APTT, but the clinical history was at variance with these differentials and the response to factor VIII replacement was dramatic in the index case.

Conclusion

Unusual presentations of hemophilia occur in various forms and may pose a diagnostic challenge, especially in a resource-constrained setting where diagnostic facilities are limited; however, a detailed history and response to therapy may be helpful in the diagnosis.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

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