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 Table of Contents  
Year : 2017  |  Volume : 4  |  Issue : 4  |  Page : 275-277

When chronic ischemia in thalassemia mimics leukodystrophy: Case report with review of literature

1 Department of Radiodiagnosis, King George’s Medical College, Lucknow, Uttar Pradesh, India
2 Department of Medicine, King George’s Medical College, Lucknow, Uttar Pradesh, India

Date of Web Publication11-Oct-2017

Correspondence Address:
Manish Gutch
Department of Medicine, King George’s Medical College, Lucknow, Uttar Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/cjhr.cjhr_30_17

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We present magnetic resonance imaging (MRI) brain picture of a 10-month-old child suffering from thalassemia major. The picture had changes that mimicked leukodystrophy. However, on taking detailed clinical history, the MRI picture fitted well into the chronic hemolytic anemia pathology, and the changes could be explained and corroborated with studies in the literature.

Keywords: Chronic hemolytic anemia, leukodystrophy, thalassemia

How to cite this article:
Kumar S, Gutch M. When chronic ischemia in thalassemia mimics leukodystrophy: Case report with review of literature. CHRISMED J Health Res 2017;4:275-7

How to cite this URL:
Kumar S, Gutch M. When chronic ischemia in thalassemia mimics leukodystrophy: Case report with review of literature. CHRISMED J Health Res [serial online] 2017 [cited 2023 Mar 31];4:275-7. Available from: https://www.cjhr.org/text.asp?2017/4/4/275/216470

  Introduction Top

Chronic hemolytic anemias are disorders of variable clinical severity with patients presenting at different ages and different pathological severities depending on the age at affection, and the degree of dysfunctionality. The magnetic resonance imaging (MRI) brain picture of such patients is a less studied topic, we present florid clinical, as well as MRI presentation of a thalassemia major, affected 10-month-old male baby, whose profoundly abnormal MRI brain images mimicked leukodystrophy (metachromatic leukodystrophy), we will deliberate on points which demarcated a chronic systemic cause of these changes as opposed to dysmyelination.[1]

Metachromatic leukodystrophy, on the other hand, has a slightly later onset, with most cases seeking medical consultation at or after about 1.5 years, (our patient showed clinical deterioration starting from 6 months of age) with more gradual progression. Moreover, the MRI brain changes are essentially bilaterally symmetrical, and atrophy sets in at a later stage.[2]

  Case Report Top

We present the case of a 10-month-old male baby belonging to a rural parenthood in the northern part of India.

A 10-month-old male baby with apparently normal parents, the only child born out of nonconsanguineous marriage, presented with altered sensorium. On physical examination, the infant weight – 3.2 kg, length – 64 cm, blood pressure – 80/42 mmHg, pulse rate – 120/min, respiratory rate – 34/min, dehydration absent, pallor present, icterus present, cyanosis absent, lymphadenopathy absent, clubbing absent, Glasgow Coma Score E2M3V2, planter down going, pupillary reaction normal size normal reacting. On abdominal examination, the child was found to have splenomegaly and hepatomegaly. Investigations showed an hemoglobin (Hb) of 5.9, mean corpuscular hemoglobin (MCH) of 21.5, mean corpuscular volume of 50.3, MCHC of 43 and red blood cell distribution width of 26. PS showed anisopoikilocytic red blood cells (RBCs), target cells with few nucleated RBCs and occasional fragmented cells. Hb electrophoresis showed HbA 28%, HbF 37.3%, HbA2 3.5% and HbE 31.3%, serum bilirubin 4.4, direct 1.1, indirect 3.3, serum glutamic oxaloacetic transaminase: 126, serum glutamic pyruvic transaminase: 113, SALP 262, serum protein 5.6, serum albumin 3.1. Rest laboratory parameters were found to be normal. The parents gave a history of multiple hospitalizations for the past 4 months; he was earlier on multiple occasions diagnosed with severe anemia and had a history of multiple blood transfusions in the periphery as well in one of the city's private hospital. The child was apparently normal before the age of 6 months, as per history his developmental milestones progressing at normal pace until the age of 6 months, after which the child has remained chronically ill with severe anemia, had multiple blood transfusions before admission in our hospital. The child was received by our doctors in altered sensorium and started gasping much sooner, went into cardiopulmonary arrest, was given cardiopulmonary resuscitation, and was shifted to ventilatory support. Considering the history, clinical examination, and investigations, he was diagnosed as HbE β+-thalassemia. A diagnosis of thalassemia was made. Even after 25 days, the child still remained on ventilatory support, to rule out any central nervous pathology MRI brain was done.

The magnetic resonance imaging brain revealed

Diffuse confluent bilateral but asymmetrical signal alteration in periventricular and supraventricular white matter in bilateral cerebral hemispheres [Figure 1]a,[Figure 1]b,[Figure 1]c,[Figure 1]d, with liquefaction and areas of hemorrhagic necrosis [Figure 2]a and [Figure 1]b. In addition, a subacute infarct was seen in right parietal lobe [Figure 1]a,[Figure 1]b,[Figure 1]c,[Figure 1]d and [Figure 3]. Altered signal with similar changes was also seen in the left cerebellar hemisphere. There was diffuse cerebral atrophy; subtle leptomeningeal enhancement was also seen.
Figure 1: (a-d) Axial flair images show the diffuse asymmetrical signal alteration in bilateral cerebral hemisphere, some amount of liquefaction in some areas is also seen. Note: Relative left parietal sparing. Metachromatic leukodystrophy would typically be symmetric

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Figure 2: (a and b) Axial T1-weighted image, and gradient recalled echo image showing respective hyperintense and blooming areas in bilateral frontal lobes consistent with hemorrhage in the white matter lesions - s/o hemorrhagic necrosis

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Figure 3: Axial postcontrast spoiled gradient echo image shows gyriform enhancement in right pareital lobe-subacute infarct. Signals were camouflaged in T2 and flair images due to diffusely extensive signal abnormality

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  Discussion Top

The changes in brain tissues in thalassemia patients are varied, these changes may be symptomatic, whereas other changes can be asymptomatic, and both can be seen individually or simultaneously in an affected patient.

Sun et al.,[3] have shown in their article that there are changes in anisotropy and diffusivity white matter of chronic hemolytic anemia (sickle cell disease) patients, all their patients were asymptomatic, changes could imply myelin loss, injury, myelin changes in the context of abnormal myelin development, due to chronic inflammation and anemia, or a change in axonal architecture [4] such changes but in exaggerated form may be responsible for diffuse bilateral although asymmetrical white matter signal alteration in our patient as our patient also suffers from chronic hemolytic anemia, however he is symptomatic.

Sinniah et al.[4] have described an increased frequency of transient ischemic attacks and cerebrovascular accidents in severely anemic children with thalassemia. Our patient also had a subacute infarct which can be thus explained.

Hergüner et al.,[5] also have supporting evidence that there is a higher than normal incidence of thromboembolic events in TM. Silent infarctions are also documented. In addition, there is asymptomatic brain damage is also reported with thalassemia. The severity of damage is inversely correlated to Hb levels and increases with age. The severity of damage in our case was marked may be attributed to the chronic severe anemia his Hb levels dipped to as low as 3 g/dl in his 4 months of illness. The thromboembolic events might have caused infarction as seen in the right parietal region. Hergüner et al.,[5] and Karimi et al.,[6] have attributed the thromboembolic events to factors like-increased red blood cell cohesiveness, increased endothelial adhesion proteins and increased platelet levels in such patients.

Manfrè et al.[7] have described in their study that endothelial hyperplastic changes causing arterial stenosis have also been implied in thalassemia intermedia patients for ischemic brain changes. A low level of Hb causes hypoxia, hypertrophic changes of the endothelium, and microvascular stenosis which may attribute to ischemic white matter changes.

On looking at the scan first sight the scan mimicked leukodystrophy (metachromatic leukodystrophy), however the fact that the lesions were bilateral but asymmetrical, and that regions of hemorrhagic necrosis were present in the brain, atrophy was there and all this in a 10-month-old baby dissuaded us from leukodystrophy) (typically presents at a slightly elder age, usually more than 1–1.5 years). Importantly though, the above-mentioned history and laboratory tests were looked into by us in detail after we saw the MRI scans, on reviewing the literature, we found out that such changes including chronic white matter ischemic changes,[7] hemorrhage, infarcts,[5] and atrophy have all been described in patients with thalassemia (chronic severe anemia).

  Conclusion Top

This case emphasizes the need for proper clinical history and careful evaluation of lab investigations by the radiologists to justify the varied and unusual radiological picture in such pediatric patients. Moreover, for any chronic hemolytic severe anemias such may be the MRI picture; therefore, lies the utmost need for proper evaluation of radiological as well as clinical nuances.

Interpreting MRI scans of infants is challenging care should be taken to exclude systemic causes of disease before labeling as dysmyelination.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Eldor A, Rachmilewitz EA. The hypercoagulable state in thalassemia. Blood 2002;99:36-43.  Back to cited text no. 1
Cheon JE, Kim IO, Hwang YS, Kim KJ, Wang KC, Cho BK, et al. Leukodystrophy in children: A pictorial review of MR imaging features. Radiographics 2002;22:461-76.  Back to cited text no. 2
Sun B, Brown RC, Hayes L, Burns TG, Huamani J, Bearden DJ, et al. White matter damage in asymptomatic patients with sickle cell anemia: Screening with diffusion tensor imaging. AJNR Am J Neuroradiol 2012;33:2043-9.  Back to cited text no. 3
Sinniah D, Vignaendra V, Ahmad K. Neurological complications of beta-thalassaemia major. Arch Dis Child 1977;52:977-9.  Back to cited text no. 4
Hergüner MO, Incecik F, Altunbaşak S, Saşmaz I, Leblebisatan G. Recurrent cerebral stroke in a thalassemic patient. Hematol Oncol Stem Cell Ther 2008;1:136-8.  Back to cited text no. 5
Karimi M, Bagheri H, Rastgu F, Rachmilewitz EA. Magnetic resonance imaging to determine the incidence of brain ischaemia in patients with beta-thalassaemia intermedia. Thromb Haemost 2010;103:989-93.  Back to cited text no. 6
Manfrè L, Giarratano E, Maggio A, Banco A, Vaccaro G, Lagalla R, et al. MR imaging of the brain: Findings in asymptomatic patients with thalassemia intermedia and sickle cell-thalassemia disease. AJR Am J Roentgenol 1999;173:1477-80.  Back to cited text no. 7


  [Figure 1], [Figure 2], [Figure 3]


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