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 Table of Contents  
CASE REPORT
Year : 2017  |  Volume : 8  |  Issue : 1  |  Page : 36-38

Congenital bilateral radioulnar synostosis with acute lymphoblastic leukemia: A case report


College of Medicine, Jeddah, Saudi Arabia

Date of Web Publication12-Apr-2017

Correspondence Address:
Rahaf M Qari
College of Medicine, P O Box 80215, Jeddah 21589
Saudi Arabia
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/joah.joah_49_16

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  Abstract 


Radioulnar synostosis (RUS) is a rare, congenital bone anomaly characterized by fusion of the radius and the ulna. RUS occurs more often in males than in females and is bilateral in 50% of the cases. More than 400 cases of RUS have been described since 1793. In the literature, seven cases with RUS and hematologic problems were reported, including the newly named radioulnar synostosis-hematology syndrome. Globally, this is the first reported case of RUS associated with malignancy, that is, acute lymphoblastic leukemia, in a 3-year-old male child.

Keywords: Acute lymphoblastic leukemia, bone anomaly, radioulnar synostosis


How to cite this article:
Qari RM, Aljaouni S K. Congenital bilateral radioulnar synostosis with acute lymphoblastic leukemia: A case report. J Appl Hematol 2017;8:36-8

How to cite this URL:
Qari RM, Aljaouni S K. Congenital bilateral radioulnar synostosis with acute lymphoblastic leukemia: A case report. J Appl Hematol [serial online] 2017 [cited 2019 Dec 14];8:36-8. Available from: http://www.jahjournal.org/text.asp?2017/8/1/36/204425




  Case Report Top


A 3-year-old Yemeni male child was referred to King Abdulaziz University Hospital Emergency Department because of fever for the past 3 months; on presentation, the fever was constantly high at 39–40°C, which was relieved by using antipyretic drugs. The mother reported the presence of jaundice, loss of weight, decreased oral intake, vomiting, pallor, and dyspnea; there was painless, limited range of motion in both the elbow and the wrist joints, which was neither related to any history of trauma or fractures, nor were there reports of any similar cases in their family. The mother had no history of exposure to any radiation or teratogens during pregnancy. Past medical history, medication, and allergy history were of no significance. The development and immunization were up to age.

On examination, the patient was looking sick, lethargic, jaundiced, and pale with tiny, cervical lymph nodes, of which the largest measured 1.2 cm in diameter. The consistency of the lymph nodes was rubbery, and they were not tender. There were neither any signs of inflammation such as hotness, tenderness, or redness, nor were there any local signs of skin changes in the region of the enlarged lymph node. The chest was clear with normal bilateral equal air entry; however, abdominal examination revealed soft abdomen with no tenderness, with mild splenomegaly about 2 cm below the left costal margin, which was dull on percussion. A hand cannot be insinuated between the costal margin and the mass, and the mass was not ballottable. Neurological examination showed normal power of 6/6 in all limbs; peripheral vascular examination was intact, and examination of the other systems showed no significant findings. Examination of the arm confirmed the limited range of motion; elbow supination was completely fixed in both active and passive movements, but both of his elbows had fixed 20° of pronation. The range of motion while performing flexion of both the elbows ranged from 0° to 100°. Motion of the wrists had 70° range in pronation and 20–30° in supination, and the flexion was near normal [Figure 1].
Figure 1: Limited range of motion; elbow supination was completely fixed in both active and passive movements, but both of his elbows had fixed 20° of pronation. The range of motion while performing flexion of both the elbows was from 0° to 100°. Motion of the wrists had 70° range in pronation and 20–30° in supination, and the flexion was near normal

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The patient was admitted to investigate the acute condition of pyrexia. The provisional investigations upon presentation included complete blood count, which showed white blood cell count of 1.94 × 109, red blood cell count of 3.39 × 1012, hematocrit of 3.39, hemoglobin level of 7.2 g/dl, mean cell volume of 73.5, mean cell hemoglobin level of 27.7 pg, mean cell hemoglobin concentration of 37.7, and platelets count of 22 × 109. The automated differential blood count showed 99.1% lymphocytes flagged as blast cells, 0.3% neutrophils, and 0.3% monocytes.

Examination of the blood film revealed microcytic, hypochromic anemia, thrombocytopenia, neutropenia, and thus, pancytopenia in addition to immature mononuclear cells with high nuclear–cytoplasmic ratio, open chromatin, and faint nucleoli. The latter are suggestive of being blast cells and account for 78% of the white blood cells seen. Bone marrow examination showed an aparticulate and dilute marrow; the dominant cells seen were the blast cells with immature morphology, high nuclear–cytoplasmic ratio, and inconspicuous nucleoli suggesting acute leukemia.

Radiographic examinations demonstrated that both the elbows had an osseous synostosis in proximal borders of the radius and the ulna [Figure 2].
Figure 2: Bilateral osseous synostosis in proximal borders of the radius and the ulna

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Molecular polymerase chain reaction test for Philadelphia chromosome detected the (BCR-ABL) translocation (t9:22), for which relative quantification = 536.

Immunophenotyping/flow cytometry revealed the presence of lymphoid markers on 70% of the cells, which were mostly T-cells with intact marker and a CD4-to-CD8 ratio of 1:1. The B-cells were CD10 negative, CD19 and CD20 positive, and CD34 negative. The picture was consistent with null B-acute lymphoblastic leukemia (ALL) (French–American–British classification).

The cerebrospinal fluid examination, electrolytes and liver function test findings were within normal range. Abdominal ultrasound showed the liver to be mildly enlarged; the liver was 12.6 cm in its craniocaudal dimension. Chest X-ray and scrotal ultrasound were unremarkable.

Diagnosis of ALL null B-cell type was confirmed by bone marrow examination, and immunophenotyping and chemotherapy were started. While writing this case report, he was receiving the intensification phase of therapy and was responding very well.


  Discussion Top


Worldwide, this is the first case to be reported in the literature with congenital and bilateral radioulnar synostosis (RUS) and malignancy. In this case, it is a hematological malignancy in the form of pediatric B-ALL.

Congenital RUS is a rare anomaly characterized by the fusion of the two adjacent bones, the ulna and the radius. RUS occurs more often in males than in females and is bilateral in 50% of the cases.[1],[2]

The literature has described more than 350 cases with RUS since 1793. This anomaly is the most common congenital functional deformity affecting the elbow joint. In 9% of the cases, more than one family member was affected. In 25% of the cases, this deformity was genetically conditioned.[3],[4],[5],[6]

Among the reported cases, only seven were associated with benign hematologic problems (with all of them being benign) including: Diamond–Blackfan anemia, amegakaryocytic thrombocytopenia, IVIC syndrome with mild thrombocytopenia and leukocytosis, WT syndrome involving a wide array of hematologic abnormalities, Cohen syndrome with neutropenia and fluctuating thrombocytopenia, and Noonan syndrome with abnormal bleeding and easy bruising.[7],[8],[9],[10],[11]

The literature described the association of inherited syndrome of congenital amegakaryocytic thrombocytopenia and RUS with a point mutation in the third helix of HOXA11 homeodomain (HOXA11-DeltaH3).[12]

Congenital RUS is also one of the many components of malformation syndromes in the pediatric age group with chromosomal abnormalities. One of the commonly associated malformations with this syndrome is found to be the chromosome X aberrations. The common examples are the following: mosaic karyotype 46,XY/47,XYY/48,XYYY in a 3-year-old boy with bilateral RUS.[13],[14] Additionally, there are reports on cases of congenital RUS in chromosome Y aberrations.[15]

To our knowledge, this is the first case showing the coexistence of both RUS and malignancy; in this case, the malignancy was Philadelphia-positive childhood B-cell ALL. This case could be a new association or a mere coincidence. Therefore, newly discovered cases of RUS need to be investigated for hematological disorders, chromosomal aberrations, and associated point mutations. Newly diagnosed leukemia is naturally a candidate for examination to detect any associated bony deformities.

Informed consent

Written informed consent was obtained from the mother of the patient for the manuscript and accompanying images. A copy of the written consent is available for review by the author.

Acknowledgements

The author acknowledges the patient on whom this case report is based.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Siemianowicz A, Wawrzynek W, Besler K. Congenital radioulnar synostosis − Case report. Pol J Radiol 2010;75:51-4.  Back to cited text no. 1
    
2.
Farzan M, Daneshjou K, Mortazavi SM, Espander R. Congenital radioulnar synostosis: A report of 11 cases and review of literature. Acta Med Iran 2002;40:126-31.  Back to cited text no. 2
    
3.
Simmons BP, Southmayd WW, Riseborough EJ. Congenital radioulnar synostosis. J Hand Surg Am 1983;8:829-38.  Back to cited text no. 3
    
4.
Sachar K, Akelman E, Ehrlich MG. Radioulnar synostosis. Hand Clin 1994;10:399-404.  Back to cited text no. 4
    
5.
Griffet J, Berard J, Michel CR, Caton J. Congenital superior radioulnar synostoses. A study of 43 cases. Int Orthop 1986;10:265-9.  Back to cited text no. 5
    
6.
Wilkie DP. Congenital radioulnar synostosis. Br J Surg 1914;1:366-75.  Back to cited text no. 6
    
7.
Thompson AA, Woodruff K, Feig SA, Nguyen LT, Schanen NC. Congenital thrombocytopenia and radio-ulnar synostosis: A new familial syndrome. Br J Haematol 2001;113:866-70.  Back to cited text no. 7
    
8.
Thompson AA, Nguyen LT. Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation. Nat Genet 2000;26:397-8.  Back to cited text no. 8
    
9.
Horvat-Switzer RD, Thompson AA. HOXA11 mutation in amegakaryocytic thrombocytopenia with radio-ulnar synostosis syndrome inhibits megakaryocytic differentiation in vitro. Blood Cells Mol Dis 2006;37:55-63.  Back to cited text no. 9
    
10.
Castillo-Caro P, Dhanraj S, Haut P, Robertson K, Dror Y, Sharathkumar AA. Proximal radio-ulnar synostosis with bone marrow failure syndrome in an infant without a HOXA11 mutation. J Pediatr Hematol Oncol 2010;32:479-85.  Back to cited text no. 10
    
11.
Yoshida H, Hashii Y, Okuda T, Kusuki S, Sato E, Inoue A et al. A case of congenital bone marrow failure with radio-ulnar synostosis. Int J Hematol 2010;91:331-2.  Back to cited text no. 11
    
12.
Fujino T, Suzuki A, Ito Y, Ohyashiki K, Hatano Y, Miura I et al. Single-translocation and double-chimeric transcripts: Detection of NUP98-HOXA9 in myeloid leukemias with HOXA11 or HOXA13 breaks of the chromosomal translocation t(7;11)(p15;p15). Blood 2002;99:1428-33.  Back to cited text no. 12
    
13.
Mazauric-Stüker M, Kordt G, Brodersen D. Y aneuploidy: A further case of a male patient with a 48, XYYY karyotype and literature review. Ann Genet 1993;35:237-40.  Back to cited text no. 13
    
14.
Townes PL, Ziegler NA, Lenhard LW. A patient with 48 chromosomes (XYYY). Lancet 1965;285:1041-3.  Back to cited text no. 14
    
15.
Syed AA, Quinton R. Congenital radioulnar synostosis, azoospermia, and pseudodicentric Y chromosome. Fertil Steril 2008;90:425-6.  Back to cited text no. 15
    


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  [Figure 1], [Figure 2]



 

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