logy diseases

8/8/2019 logy Diseases

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This is the blood film of apatient with anaemia. a.What is the diagnosis?

b. How is this conditioninherited?

c. What ocular signs maybe present?


3/14

This is the blood film of a patient with anaemia.

a. What is the diagnosis?

Sickle cell anaemia (Hb SS).

b. How is this condition inherited?

Autosomal recessive inheritance.

There is substitution of valine for glutamine in the 6th

position on the beta chains of the haemoglobin molecules.

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c. What ocular signs may be present?

The following signs are specific to patient with sickle cell anaemia.

Anterior segment:

ycomma-shaped conjunctival vessels

Posterior segment:

yproliferative changes- sea-fan lesions in the peripheral retina

- vitreous haemorrhage- salmon patches (results from intraretinal and subretinal haemorrhages)

- black sun bursts (commonly follows salmon patch and results from RPEhyperplasia)

- tractional retinal detachment

ynon-proliferative changes- an ioid streaks


5/14

This is the blood film of a patientwith flamed retinal haemorrhages.a. What does the blood film show?

b. What other ocular signs may be

present?


6/14

This is the blood film ofa patient with flamedretinal haemorrhages. a.What does the blood filmshow?

Hypochromic microcysticblood film.This is seen in iron-deficiency anaemia

(compared this withnormal blood film figure

2.)

b. What other ocular

signs may be present ?

Anterior segment

pale conjunctiva

Posterior segment

dilated retinal vessels

retinal haemorrhages

cotton wool spotsRoth spots

Figure 2b.What other ocular signsmay be present? Anteriorsegment pale conjunctivaPosterior segment dilatedretinal vessels retinalhaemorrhages cottonwool spots Roth spots

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7/14

This is the blood film of a patientwith lethargy and poor vision. a.What does the blood film show?

b. What could be responsible for

this appearance?c. What is the most likely diagnosis

in this case?


8/14

This is the blood film of a patient with lethargy and poorvision. a. What does the blood film show?

The neutrophil shows hypersegmentation of nucleus.b. What could be responsible for this appearance?

Folate or Vitamin B12 deficiency.Both are needed for the normal development of haemopoietictissue. The deficiency of either causes megaloblastic anaemia.The hypersegmentation of the nucleus is caused by defective

DNA synthesis. c. What is the most likely diagnosis in thiscase? Vitamin B12 deficiency.Vitamin B12 deficiency causes neurological symptoms in

additionto megaloblastic anaemia. The neurological symptoms includesubacute combined degeneration of the cord and optic atrophy.

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9/14

This is the bone marrow film of ayoung patient with bilateral

pingueculae. a. What is shown inthis film?

b. What is the diagnosis?c. How is this condition inherited?


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This is the bone marrow film of a young patient with bilateral pinguculae. a. What is shown in this film?Gaucher cell.

Gaucher cell is glucocerebroside-containing reticuloendothelialhistiocytes and in the bone marrow it has the foam cell appearance.

b. What is the diagnosis?Gaucher's disease.

It is a rare, inherited and potentially fatal disorder. It is characterized by decreased levels of the enzymeglucocerebrosidase. Deficiency of glucocerebrosidase leads to the accumulation of the lipid

glucocerebrosidewithin the lysosomes of the monocyte macrophage system ie.Gaucher cells.These cells lead to thedisplacement of healthy, normal cells in bone marrow,hepatosplenomegaly, organ failure and skeletal deterioration.

c. How is this condition inherited?Autosomal recessive inheritance. Type 1 chronic non-neuropathic is the most common, afflicting both

children and adults. This type is seen in all racial group, but more common in people of Eastern European ancestry.Pinguculae are commonly seen on the nasal conjunctiva in type 1 than other types.

Type 2 acute neuropathic is characterized by central nervous system involvement. Type 2 patients rarely survive to

age 2.Type 3 subacute neuropathic. Type 3 is characterized by a variable

course and is marked by slowly progressive neurologic involvement.

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12/14

This is the blood film of a patient with blurred vision. a. What does the blood filmshow?

Rouleaux formation.The red blood cells stacked together like coins and this occurs with increased serum

proteins especially fibrinogen and globulins. These long chains of red blood cellsallows the cells to sediment more rapidly and therefore high ESR (erythrocyte

sediment rate). b. List some haematological condition which may be responsiblefor this appearance. multiple myeloma

Waldenstrom's macroglobulinaemia

c. What ocular signs may be present?

Posterior segment tortuous veinsretinal haemorrhagesretinal vein occlusionNeuro-ophthalmic signs papilloedemacranial nerve palsies

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13/14

This is the blood film ofa young woman with

anaemia. a. What does

the blood film show?b. In what ways can

this condition affect theeyes?


14/14

: This is the blood film of a young woman with anaemia. a. What does the blood film

show?Myeloblasts.

The patient has acute myeloid leukaemia.b. In what ways can this condition affectthe eyes? Anterior segment iritis due to iris infiltration

dry eye from lacrimal gland involvementPosterior segment tortuous veincotton wool spotsRoth spotshaemorrhageleukaemic miliary nodules

serous retinal detachment from choroidal infiltrationNeuro-ophthalmic papillitiscranial nerve palsiesOrbit proptosis due to orbital involvement

Answers

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