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Year : 2015  |  Volume : 6  |  Issue : 2  |  Page : 183-185

Retinal bleed and cutaneous manifestation in megaloblastic anemia, a rare presentation

1 Department of Ophthalmology, Institute of Medical Sciences (IMS), Banaras Hindu University (BHU), Varanasi, Uttar Pradesh, India
2 Department of General Medicine, Institute of Medical Sciences (IMS), Banaras Hindu University (BHU), Varanasi, Uttar Pradesh, India

Date of Web Publication13-Jul-2015

Correspondence Address:
Dr. Nilesh Kumar
126 Saket Nagar, Varanasi - 221 005, Uttar Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0975-9727.160717

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How to cite this article:
Chaturvedi PK, Kumar N, Ravindu, Varshney A. Retinal bleed and cutaneous manifestation in megaloblastic anemia, a rare presentation. Muller J Med Sci Res 2015;6:183-5

How to cite this URL:
Chaturvedi PK, Kumar N, Ravindu, Varshney A. Retinal bleed and cutaneous manifestation in megaloblastic anemia, a rare presentation. Muller J Med Sci Res [serial online] 2015 [cited 2022 Jan 25];6:183-5. Available from: https://www.mjmsr.net/text.asp?2015/6/2/183/160717

Dear Editor,

Vit. B12 deficiency usually manifests clinically in the form of Anemia, leucopenia, thrombocytopenia, lethargy, weight loss, weakness, accumulation of fat around heart, liver, peripheral nerves and skin lesions in the form of hyperpigmentation, vitiligo, and angular stomatitis. The neuropsychological symptoms include myelopathy, neuropathy, dementia and rarely optic nerve atrophy. Vitamin B12 deficiency is associated with many psychiatric disorders like mood disorders, confusion, delirium, panic attacks, hallucinations, delusions and psychosis. Bilateral retinal hemorrhages and cutaneous manifestations are rare presentation of megaloblastic anemia. [1] The purpose of this case report is to highlight the clinical presentation of megaloblastic anemia, which is different from previous presentation and the role of a clinician in detecting the megaloblastic anemia first in lactovegetarian, which led to successful recovery after the treatment.

We report a case of an 18 year old male presented with generalized weakness, breathlessness on exertion, blackish discoloration of palm and sole for one month and diminision of vision from left eye for one week. There was no history of fever, bleeding from any site, lymphadenopathy, hematemesis, malena, joint pain, oral ulceration, blood transfusion and bone pain. On general examination there was severe pallor and discoloration of palm and sole [Figure 1]. Systemic examination revealed mild Hepatospleenomegaly. Apart from reduced visual acuity in both eyes (significantly reduced in left eye <6/60 as compared to right eye, 6/12), rest of the ocular examination were insignificant but for bilateral fundus examination showing Roth spots in all quadrants with left eye also showing subhyloid hemorrhage in the macular area, a Cup: Disc ratio of 0.6 bilaterally with normal NRR, A: V ratio of 2:3 and a normal A: V crossing in both eyes [Figure 2]. His investigations showed Haemoglobin-3.2 gm/dl, Total leucocyte count-1600/cumm, platelet count-5000/cumm, Total RBC count-0.83 milion/cumm, Mean cell volume- 109.10 fl, (IRON,TIBC,224.1/248.1/microgram were normal, LDH-/7770 IU/L High), Reticulocyte count-2.7, Random blood sugar, Liver Function test, Renal function test, Stool for occult blood, urine routine microscopy all were normal. Vitamin B12 level was 75 ΅/ml low (211-911). General blood picture and Bone marrow aspiration were suggestive of Megaloblastic anemia. Barium meal follow through showed mild jejunitis, Ultrasound of Abdomen was normal. On this basis we put the diagnosis of megaloblastic anemia in lactovegetarian male with retinal bleed and cutaneous manifestations. We transfused two units of blood and started vitamin B12 and iron folic acid once a day; on third day his Reticulocyte count was 7.5, on 4 th day of treatment his hemoglobin was 7.5 gm/dl, Total leucocyte count-2400/cumm, platelet was 110000/cumm. Patient was discharged on injectable vit. B12 and Iron folic acid and reviewed in OPD after one month, his all parameters were normal. His discolored palm and sole showed improvement. Visual acuity of left eye drastically improved comparable to right eye and fundus examination showed no new bleed and healing of the past bleed. Patient became able to do his routine work without weakness and breathlessness and with prescription of spectacles for distant correction.
Figure 1: (a) Severe pallor, blakish discolouration of palm and sole (b) Severe pallor, blakish discolouration of palm and sole (c) Severe pallor, blakish discolouration of palm and sole

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Figure 2: (a) Bilateral fundus shows flame shape hemorrhage and roth spot, left eye shows subhyloid hemorrhage in macular area (b) Bilateral fundus shows flame shape hemorrhage and roth spot, left eye shows subhyloid hemorrhage in macular area

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The rare, "subhyaloid" or "preretinal" hemorrhage is located between the nerve fiber layer and the inner limiting membrane of the retina. Causes of this hemorrhage include Valsalva maneuver, diabetic retinopathy, retinal branch vein occlusion, ruptured macro-aneurism of the retina and shaken baby syndrome. Other rare causes include thrombocytopenia, leukemia, autoimmune hemolytic anemia, aplastic anemia, megaloblastic anemia, severe head trauma, bleeding secondary to intercourse and intraocular pressure variation during refractive surgery. [2] Roth spots were considered as pathognomonic for subacute bacterial endocarditis but a wide spectrum of pathologies like leukemia, anemia, diabetes, sickle cell disease, scurvy and connective tissue disorders with increased capillary fragility may act as a causative factor. In megaloblastic anemia, direct anoxia may result in endothelial dysfunction. [3] Anemia of different reasons can result in varied ocular manifestations, flame-shaped hemorrhages being the commonest followed by subhyaloid hemorrhage. Severity of retinal manifestations depends upon severity of anemia. Our case had severe anemia but the associated venous tortuosity was absent. It suggests that beside anemia, thrombocytopenia was a causative factor. [4] Thrombocytopenia alone, even severe (a platelet count <50000/ul), is rarely sufficient to cause significant retinal hemorrhage. However, thrombocytopenia combined with anemia is a known risk factor, and retinal hemorrhages in association with thrombocytopenia have only been reported to occur with concurrent severe anemia. [5] There are a few isolated case reports in literature describing similar retinal hemorrhages associated with thrombocytopenia. [6] A systemic work up revealed the diagnosis of megaloblastic anemia, which is a group of disorders characterized by the presence of distinctive morphologic appearances of the developing red cells in the bone marrow. The marrow is usually cellular and the anemia is based on ineffective erythropoiesis. The cause is usually a deficiency of either cobalamin (vitamin B12) or folate, but megaloblastic anemia may occur because of genetic or acquired abnormalities that affect the metabolism of these vitamins or because of defects in DNA synthesis not related to cobalamin or folate. In some cases of megaloblastic anemia (anemic conditions that have a common failure mechanism in which the body is unable to synthesize adequate amounts of normal DNA), there is concomitant leukopenia and thrombocytopenia, reflecting the abnormal development of white blood cells and platelets resulting in a low platelet count and, occasionally, bleeding complications. Platelet count may be moderately reduced, rarely to <40000/ml, but in our case it reduces to 9000/ml. Such patients can develop severe grades of anemia, with resultant ocular manifestations and decrease in vision, which can often be bilateral. However ophthalmic involvement is exceptionally rare. [7] Hemorrhagic ophthalmic manifestations associated with thrombocytopenia include vitreous hemorrhage associated with intracranial bleeding in a Terson type phenomenon, hemorrhages within the optic tract, nonarteritic anterior ischemic optic neuropathy and subconjunctival hemorrhages. [8] The mucocutaneous manifestations of vitamin B12 deficiency are less common. Dr. Bramwell Cook first described that hyperpigmentation of the skin was associated with a macrocytic anemia and that both symptom responded to crude liver extract. [9] In megaloblastic anemia, the following skin lesions, hyperpigmentation, vitiligo, hair changes, and recurrent angular stomatitis are present. Hyperpigmentation of the extremities - especially over the dorsum of the hands and feet, with accentuation over the interphalangeal joints and terminal phalanges associated with pigmentation of oral mucosa is characteristic of vitamin B12 deficiency. [10] Few other cases of skin hyperpigmentation due to vitamin B12 deficiency have been reported in the literature. The mechanism of hyperpigmentation is due to increased melanin synthesis rather than a defect in melanin. [11]

It is clearly demonstrated in our patient that ophthalmic and cutaneous manifestations are rare and do not need any specific treatment other than controlling thrombocytopenia and anemia. Good comprehensive examination of the patient with a high index of suspicion can clinch the systemic diagnosis, and control of systemic parameters will help to improve the mucocutaneous manifestations and retinopathy associated.

  References Top

Rubenstein RA, Yanoff M, Albert DM. Thrombocytopenia, anemia and retinal hemorrhage. Am J Ophthalmol 1968;65:435-9.  Back to cited text no. 1
Oner A, Ozkiris A, Dogan H, Erkilic K, Karakukcu M. Bilateral macular hemorrhage associated with autoimmune hemolytic anemia. Retina 2005;25:1089-90.  Back to cited text no. 2
Zehetner C, Bechrakis NE. White centered retinal hemorrhages in vitamin b(12) deficiency anemia. Case Rep Ophthalmol 2011;2:140-4.  Back to cited text no. 3
Majji AB, Bhatia K, Mathai A. Spontaneous bilateral peripapillary, subhyaloid and vitreous hemorrhage with severe anemia secondary to idiopathic thrombocytopenic purpura. Indian J Ophthalmol 2010;58:234-6.  Back to cited text no. 4
[PUBMED]  Medknow Journal  
Sodhi PK, Jose R. Subconjunctival hemorrhage: The first presenting clinical feature of idiopathic thrombocytopenic purpura. Jpn J Ophthalmol 2003;47:316-8.  Back to cited text no. 5
Rubenstein RA, Yanoff M, Albert DM. Thrombocytopenia, anemia, and retinal hemorrhage. Am J Ophthalmol 1968;65:435-9.  Back to cited text no. 6
Holt JM, Gordon-Smith EC. Retinal abnormalities in diseases of the blood. Br J Ophthalmol 1969;53:145-60.  Back to cited text no. 7
Frankel CA, Pastore DJ. Idiopathic thrombocytopenic purpura with intracranial hemorrhage and vitreous hemorrhage. Clin Pediatr (Phila) 1990;29:725-8.  Back to cited text no. 8
Baker SJ, Ignatius M, Johnson S, Vaish SK. Pigmentation and vitamin B12 deficiency. Br Med J 1963;2:1205.  Back to cited text no. 9
Aaron S, Kumar S, Vijayan J, Jacob J, Alexander M, Gnanamuthu C. Clinical and laboratory features and response to treatment in patients presenting with vitamin B12 deficiency-related neurological syndromes. Neurol India 2005;53:55-8.  Back to cited text no. 10
[PUBMED]  Medknow Journal  
Mori K, Ando I, Kukita A. Generalized hyperpigmentation of the skin due to vitamin B12 deficiency. J Dermatol 2001;28:282-5.  Back to cited text no. 11


  [Figure 1], [Figure 2]


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