Is it cancer? Another case study

As I wrote in my previous post, sometimes other diseases may masquerade as cancer. Tay CW et al. reports another such case published in the International Journal of Surgery Case Reports.

They reported a case of a 33 year old female patient who presented with difficulty in swallowing, technically termed as dysphagia. There were no other symptoms. She was a non-smoker and there were no significant previous medical conditions. Chest X-ray and routine blood examination was normal. Physical examination did not reveal much.

Now the differential diagnosis of dysphagia is pretty long, involving the mouth, pharynx and the esophagus. Whether the symptom of dysphagia is progressive or not have to be considered. Progressive dysphagia suggests a malignant lesion. The type of  food which is difficult to swallow is also significant. Dysphagia which was initially to solids and gradually progresses to liquids indicates a malignant lesion. Dysphagia to liquids from the onset indicates a motility disorder of the esophagus. Dysphagia particularly aggravated on eating acidic food indicates an ulcerative lesion of the esophagus. In this case, the dysphagia was progressive for two weeks.

During the course of further investigation an upper gastrointestinal endoscopy was done. Upper gastrointestinal endoscopy is done to directly visualize the esophagus to look for any abnormal mass, ulceration or stricture that may cause dysphagia. A large submucosal esophageal mass was found, 25 cm from the incisor teeth. In the esophagus, any position is denoted by its length from the incisor teeth. The end of the esophagus is at about 40 cm from the incisor teeth. The mass was soft and covered by normal esophageal mucosa. Subsequently, a CT scan was done which showed a mid-esophageal mass, 4X2 cm in size. It was suggested to be an esophageal carcinoma and the patient was advised to undergo surgery.

Smoking and alcohol consumption are high risk factors for the development of esophageal carcinoma. They were absent in the patient. Dysphagia was the only complaint of the woman without any associated symptoms of cough, weight loss, fever, and hemetemesis (vomiting of blood). Squamous cell carcinoma is the commonest type esophageal carcinoma; adenocarcinoma is the second commonest. Other types are rare.

Sub carinal space. Modified screenshot from Google body browser.

At this stage the patient was referred to the authors for a second opinion. They arranged for an endoscopic ultrasound (EUS) and surprise! EUS detected a heterogeneous mass, 46 mm X 23 mm in size in the subcarinal window (subcarinal space is the space in front of the esophagus below the bifurcation of the trachea which is called the carina). It was suggested to be a lymph node which has enlarged and compressed the esophagus, causing the symptom of dysphagia. Fine needle aspiration was done endoscopically and cytological examination of the aspirate revealed an epithelioid granuloma, typically seen in tuberculosis. Molecular analysis of the aspirate was positive for Mycobacterium tuberculosis.

This finding changed the picture radically. Instead of surgery, the patient underwent medical treatment for tuberculosis with antitubercular drugs. EUS was the pivotal diagnostic study.

What is intriguing is that the lungs of the patient were completely clear. I would have thought of the presence of a primary lung lesion. In fact I double checked the article to see if I had missed it. The chest X-ray and CT scan of the lungs were clear. No esophageal lesions were present either. It appears to be a case of primary  mediastinal lymph node tuberculosis. At least it is better than esophageal cancer considering the poor prognosis of esophageal cancer.

Happy new year!

Tay, C., Deans, D., Khor, J., Seet, J., & So, B. (2010). Suspected oesophageal cancer in a 33 year old lady International Journal of Surgery Case Reports DOI: 10.1016/j.ijscr.2010.10.002

Is it cancer or is it not? A case study

A diagnosis of cancer carries a lot of significance for the patient who receives the diagnosis. But is it always cancer? Can it be another disease masquerading as cancer? It is rare, but it can happen as a case report by Smulders YE et al. published in the Journal of Medical Case Reports demonstrates.

They report a case of a 50 year old Caucasian male referred to their clinic. He had complaints of dysphonia (difficulty in speaking), dysphagia (difficulty in swallowing), and odynophagia (pain while swallowing). He also had a complaint of pain going to his right ear. All these had been going on for two months. The patient also suffered from recurrent aspiration of liquids and had lost 3 kg of body weight.

The larynx. From Wikipedia.

The authors visualized his larynx (voice box) with a laryngoscope. There was an ulcer on the right false vocal cord (present above the true vocal cords, also called ventricular fold or vestibular fold) which extended to the epiglottis (a cartilage of the larynx). The right true vocal cord was edematous and mobility of the vocal cord was decreased. Contrast enhanced CT scan of the neck showed an enhanced mass present in the right false cord which had extended in to the anterior commissure (front end of the vocal cords) and upwards in to the piriform sinus.

(A) Initial antero-posterior chest X-ray. Miliary nodules predominantly bilaterally distributed in the upper parts of the lung parenchyma. (B) Axial contrast-enhanced computed tomography image of the neck: enhanced mass (arrows) in the false vocal cord which extends into the anterior commissure and obliteration of the paraglottic fat (arrowhead). (C) Axial high resolution computed tomography image of the chest: diffusely distributed interstitial nodular alterations with formation of central cavities (arrows).
Smulders et al. Journal of Medical Case Reports 2009 3:9288 doi:10.1186/1752-1947-3-9288

Direct laryngoscopy under general anesthesia showed a tumor covering the entire right false vocal cord with extension to the laryngeal surface of the epiglottis without involvement of the glottis (true vocal cord). A routine chest X-ray showed mainly bilaterally distributed miliary nodules in the upper part of the lung parenchyma. Full blood count and electrolytes were within normal limits. No lymph nodes were involved in the neck. The clinical diagnosis was T3N0 supraglottic laryngeal carcinoma. 

Let us stop here and take a look at the rationale behind the diagnosis. The man was 50 years old. Laryngeal carcinoma commonly occurs in this age group. He was a smoker for 40 years. Smoking is a known risk factor for laryngeal carcinoma. All the symptoms fit laryngeal carcinoma. Imaging and endoscopic visualization showed a tumor like mass in the larynx. T3 means the tumor is limited to the larynx with vocal cord fixation and/or invasion of the following – postcricoid area (area behind the cricoid cartilage), pre-epiglottic tissues, paraglottic space and/or minor cartilage invasion. N0 means no lymph nodes were involved by the carcinoma.

Is there any reason to doubt the diagnosis? The only thing is that the chest X-ray does not fit in the picture. The finding of the chest X-ray is more consistent with tuberculosis. But I can say this only because I have the advantage of hindsight; I already know what the diagnosis is. Moreover there are other conditions that may be consistent with the X-ray finding.

The authors then did a histopathological examination of the tumor mass. This is the diagnostic test and it sprang forth a surprise. They did not find any malignancy in the mass. Instead they found tuberculosis. This was a case of tuberculosis of the larynx in the guise of a laryngeal malignancy. They also found tubercle bacilli in the sputum of the patient meaning it was quite possible for the patient to infect others. A CT scan of the chest of the patient showed cavity formation in the lungs, indicating pulmonary tuberculosis. Two nurses, two of the patient’s relatives and two of his friends tested positive in skin with purified protein derivative (PPD). The patient was treated with antituberculous drugs and the contacts were treated prophylactically with tuberculostatics.

This case demonstrates that you can never be too sure in medicine. The features of laryngeal cancer and laryngeal tuberculosis are overlapping and there needs to be an index of suspicion to differentiate the two. Tuberculosis can cause all the symptoms of laryngeal carcinoma, from weight loss to tumor like mass. Here there was a clue in the chest X-ray finding but without a degree of suspicion, TB is not the first thing that would come to your mind. In this case, the laryngeal tuberculosis was probably secondary to the pulmonary tuberculosis with the larynx becoming infected from the coughed up tubercle bacilli. I would have been interested to know if the patient had been suffering from chronic cough, which I strongly suspect as his contacts came out to be positive in the PPD test. Erythrocyte sedimentation rate would also have given a clue as it would have been elevated in TB.

Merry Christmas!

Reference :

Smulders, Y., De Bondt, B., Lacko, M., Hodge, J., & Kross, K. (2009). Laryngeal tuberculosis presenting as a supraglottic carcinoma: a case report and review of the literature Journal of Medical Case Reports, 3 (1) DOI: 10.1186/1752-1947-3-9288

A Christmas tree in the eye

Medicine never ceases to amaze.  I just read a case report published in the BMJ by Ebube E Obi and C Weir about a Christmas tree cataract. I have seen some cases of cataract but I have not seen a Christmas tree cataract. May be sometime in future I will.

They report a case of a 73 year old woman who presented with a Christmas tree cataract of the left eye. The Christmas tree cataract was highly reflective, iridescent and polychromatic. They look like little needles in the eye going in all directions and assume the shape of a Christmas tree. The needles change color when the angle of the incident light is changed. The woman was referred to them for cataract surgery.

A Christmas tree cataract. From BMJ. 

Any opacity in the lens of the eye is called a cataract. Senile cataract is the commonest type though there are many other types. Usually it is accompanied by progressive impairment of vision but in Christmas tree cataract the vision may be 6/6 which is normal. In a Christmas tree cataract, the adjacent areas of the lens remain clear.

GA Shun-Shin et al. had examined the morphological and chemical composition of Christmas tree cataracts. They had examined four Christmas tree cataracts that were extracted and eight Christmas tree cataracts from donor eyes by scanning and transmission electron microscopy. Chemical composition was analyzed by energy dispersive x-ray microanalysis and Raman microspectroscopy.

Electron microscopy showed that Christmas tree cataracts were made up of rectilinear crystal like structures traversing the eye in all directions. The crystalline structures consisted of varying number of plate like elements stacked up together having a periodicity of about 5 nm. It has been suggested that the origin of these structures lie in the reticular meshwork. With increasing age there is degradation of the peptides and amino acids within the lens by endopeptidases. There is an increase in calcium ions and this local increase in calcium ions stimulates the endopeptidases resulting in protein breakdown. The breakdown products are subsequently deposited in the lumen of the reticular meshwork forming the Christmas tree cataract. Radiographic microanalysis showed the presence of sulfur in the crystals of the Christmas tree cataract. Raman microspectroanalysis showed increased CS-SC and S-S vibrations. The crystals are thus taken to be made of cystine (an amino acid). Accumulation of cystine beyond the point of crystallization causes the formation of needles that gives the fascinating appearance of the Christmas tree in the eye.

Reference:

Obi, E., & Weir, C. (2010). A Christmas tree cataract BMJ, 341 (dec08 3) DOI: 10.1136/bmj.c6644


Shun-Shin GA, Vrensen GF, Brown NP, Willekens B, Smeets MH, & Bron AJ (1993). Morphologic characteristics and chemical composition of Christmas tree cataract. Investigative ophthalmology & visual science, 34 (13), 3489-96 PMID: 8258504

Changes

Made some changes in the way the blog looks. Hopefully it will be good.

A closer look at Saturday Night Palsy

I was reading James’ post on Saturday Night Palsy and thought about having a closer look.

Saturday night palsy occurs due to pressure on the radial nerve by keeping the arm over the handle of a chair or in some unusual position while sleeping, usually following heavy drinking. The palsy occurs due to injury to the radial nerve in the radial groove of the humerus (bone of the arm). The radial nerve, also known as the musculospiral nerve, lies in the radial groove in the posterior aspect of the humerus. The resulting paralysis from the injury is usually temporary, neuropraxia in type and resolves by itself but in some unfortunate cases, rhabdomyolysis may occur due to prolonged immobilization of the musculature as reported by Brian M. Devitt et al.  in a case report.

Radial Groove on humerus. Modified from Wikipedia

They reported a case of a 18 year male who suffered from Saturday Night Palsy after binge drinking and subsequently sleeping with his right arm wrapped around a suitcase. He woke up with paralysis of the right arm, severe pain and swelling. He also suffered from rhabdomyolysis. The course was not good. Total debridement of the biceps and brachialis muscle and partial debridement of brachioradialis muscle had to be done. All because of falling asleep while drunk!

Saturday night palsy is characterized by wrist drop. Injury to the radial nerve in the radial groove causes motor paralysis of the extensor muscles of the wrist, resulting in wrist drop. The patient is unable to lift up his wrist and it hangs down. Extensor muscles of all the joints of the thumb are paralyzed hence the patient is unable to extend his thumb. Extensor muscles of the fingers as a whole are not affected because the interossei muscles and lumbrical muscles which are responsible for extension remain unaffected as they are supplied by the ulnar nerve and the median and ulnar nerves respectively. The supinator and brachioradialis muscles are paralysed but supination movement of the forearm is possible by the intact biceps muscle.

The triceps muscle escapes paralysis although it is supplied by the radial nerve because nerve supply to all the three heads of the muscle arises before the radial nerve enters in the radial groove.

Sensory loss is present on the back of the hand, on the lateral side of the thumb and adjacent part of the palm. There is sensory loss on the medial side of the thumb and adjoining sides of the index, middle and lateral side of the ring finger. Anesthesia of the back of the fingers also occurs up to the proximal interphalangeal joint except over the thumb where it reaches up to the nail.

Saturday night palsy is usually managed conservatively with removal of compression, physical therapy and wrist splints.

Reference:

Devitt, B., Baker, J., Ahmed, M., Menzies, D., & Synnott, K. (2010). Saturday night palsy or Sunday morning hangover? A case report of alcohol-induced Crush Syndrome Archives of Orthopaedic and Trauma Surgery DOI: 10.1007/s00402-010-1098-z

How did Mozart die? In 140 ways!

I was going through an article published in the BMJ by Karhausen LR where he describes the different hypotheses put forward to explain the death of Mozart. Karhausen has listed 140 causes proposed to explain the death of Mozart even though he died only once.

Mozart. From BMJ.

In medicine a hypothesis is made by observing the facts, that is, case history and the clinical examination. The hypothesis is then tested by diagnostic tests. If the test results support the hypothesis, it is accepted. If not, it is rejected. Usually there are several competing hypotheses to explain a set of symptoms, termed as differential diagnosis. The final diagnosis is the one which is most favored by the evidence. On the other hand, in historical medicine usually there is no way to test a hypothesis. Surely we can say about the probability of a particular diagnosis but that’s pretty much all that can be said. Hence there arise many competing hypotheses, all vying for the position of final diagnosis.

Karhausen argues that in case of Mozart, the data has been manipulated to fit the hypothesis.

Most of the 27 psychiatric disorders attributed to Mozart result from disregarding or misquoting the criteria that demarcate normal from abnormal behaviour. Some authors upgrade daily worries into paranoid ideas or anxiety neuroses; blues or genuine worries into depression; elation into hypomania; linguistic games into jargonophasia; wit into immature or manic behaviour or into a childish, psychotic other self; the dissonant harmonies of the Haydn quartets into Tourette’s syndrome; and, at the end of his life, a small shuddering into a convulsion.

Much can be said about psychiatric conditions and without any hard evidence it is dependent upon interpretation. Karhausen comments that the psychological assessment of Mozart says much more about the psychobiographers themselves than it does about Mozart.

There is also a thing about the perspective from which different investigators approach. A cardiologist thinks of a heart condition first when he sees a patient whereas a nephrologist thinks about the kidneys when he sees the same patient. A microfungi expert, Schoental suggested Mozart died from mycotoxin poisoning. The neurosurgeon, Drake forwarded subdural hematoma. The cardiologist, Brown, thought of endocarditis whereas Langegger, the psychiatrist, thought of a psychosomatic cause. There is also a theory about Mozart being murdered by the Jews, the Freemasons or the Jesuits.

As the number of competing hypotheses put forward increases, the diseases become more uncommon and rarer. The common diseases had already been proposed, all that remains are increasingly uncommon. The list of diseases proposed to explain the death of Mozart can be used to form a short treatise on medicine. I like posthemorrhagic anemia. So Mozart survived a massive loss of blood, but died from anemia?

Karhausen ends by noting –

It [psychological hypothesis of Mozart’s death] covers the hidden intent to pull an exceptional creator down from his pedestal through some obscure need to cut great artists down to size.

The whole list of causes of Mozart’s death is available here.

Reference:

Karhausen, L. (2010). Mozart's 140 causes of death and 27 mental disorders BMJ, 341 (dec10 1) DOI: 10.1136/bmj.c6789

Going for fishing: What’s the catch?

It is very unfortunate to have a leisurely activity end in a disaster. A recent case report by Inchingolo F et al. published in the Head and Face Medicine journal illustrates this. When you go for fishing, you may end up with more than what you would have bargained for; the catch may be your very own eye, or in this case, the eyelid.

The authors describe a case of a young 32 year old male fisherman in whom the fish-hook he was using got embedded in his right eyelid. When he was reeling the hook back, it hit him in the face and attached to his right eyelid. He was fortunate that the eye was not injured. The hook was removed under local anesthesia by making a small incision and the patient made a full recovery. He even wanted to resume fishing.

Fish-hook injury to the eyelid. From Head and face medicine.

Fish-hook injuries to the eye would be considered as penetrating injuries to the eye. If you look at the figure, the ends of the fish-hook are curve backwards with a barb. Now I am no expert on fish-hooks, but I would guess they are designed to keep the fish hooked, the more the fish struggles to get it off, the more deeply it attaches. Same thing happens in case of an accidental injury. If you try to get it off forcibly, it will cause even more damage.

Penetrating injuries of the eye are potentially dangerous and they should receive prompt treatment. They are dangerous due to –

• Immediate effect of the trauma.
• Infections may be introduced.
• Sympathetic ophthalmitis.

Layers of the eye. From Patient UK.

Immediate effects of trauma may be on the lid and conjunctiva and they are common as they serve to protect the eye. In lid injury, the site of the injury must be stitched meticulously. Even then, there may notching of the eyelid upon healing, but it was not there in this case. The cornea may also be injured, having a linear wound or a lacerated wound. The corneal endothelium swells up as a result of the injury and the cornea becomes cloudy. In case of large injuries to the cornea, there may be prolapse of the iris and it becomes adherent to the cornea upon recovery. The eyeball itself may rupture in severe cases. The lens may also be involved in the injury. In minor injuries to the lens, a traumatic cataract is formed with subsequent loss of vision. This is treated by removing the cataract. In severe injury to the lens, there is a large wound at the anterior capsule of the lens and the cortical matter of the lens comes out in the anterior chamber as white floccules.

The fish-hook can also cause infection of the eye. Purulent keratitis, that is, pus forming corneal inflammation can occur. This can give rise to frank purulent corneal ulcer which forms a corneal opacity on healing and impairs vision. Endophthalmitis, inflammation of the inner coats of the eyeball and panophthalmitis, inflammation of all the layers of the eyeball can also occur. Panophthalmitis is a dangerous condition with poor prognosis and the eye may have to be removed.

Another dangerous condition that may occur is sympathetic ophthalmitis. In sympathetic ophthalmitis, the uninjured normal eye also becomes involved in inflammation, in addition to the injured eye. Vision becomes impaired in both the eyes. It is thought to be autoimmune in origin, in which antibodies produced against the uveal pigments, uveal proteins and retinal proteins of the injured eye attack the normal eye.

How can fish-hook injuries be prevented? Simple precautions will suffice. Protective goggles will suffice in protecting the eye. Caution while handling the hooks will also be protective.

Reference :

Inchingolo F, Tatullo M, Abenavoli FM, Inchingolo AD, Inchingolo AM, & Dipalma G (2010). Fish-hook injuries: a risk for fishermen. Head & face medicine, 6 (1) PMID: 21156039

Electroneuronography in determining the prognosis of Bell’s Palsy

Bell’s palsy or idiopathic facial nerve palsy is the commonest cause of facial nerve paralysis. It is sudden in onset and unilateral. The cause of Bell’s palsy remains controversial. Inflammation of the facial nerve and subsequent compression of the facial nerve within the facial canal has been suggested as a cause. Infection by Herpes Simplex type 1 virus has also been implicated as a causal factor. Bell’s palsy is a lower motor neuron type of facial palsy.

Left sided Bell's Palsy. From eMedicine

In cases of Bell’s palsy associated with neuropraxia of the facial nerve there is full recovery of the facial nerve function. The management consists of medical and surgical interventions. Surgical management involves decompression of the facial nerve to remove the pressure on the nerve. Electroneuronography has been suggested as a prognostic test in case of facial nerve palsy and to determine if surgical intervention is needed. The prognostic value of electroneuronography has been investigated by Danielides V et al. in a study.

What is electroneuronography? It is an objective test to determine the number of functioning nerve fibers of the affected side in comparison to the unaffected side. The facial nerve is stimulated supramaximally on both the affected and the normal side. The amplitudes of the elicited muscle summation potentials are then measured and compared. The peak to peak amplitude is directly proportional to the number of intact nerve fibers and hence gives a measure of the neuronal degeneration. In the study, the usefulness of electroneuronography was determined using House-Brackmann facial nerve grading system as the criteria. The House- Brackmann facial nerve grading system is as follows –

• Grade I. Normal – Normal facial appearance and function in all areas.
• Grade II Mild dysfunction – slight dysfunction noticeable only on close inspection, normal symmetry and tone at rest. Forehead – moderate to good function. Eye – incomplete closure. Mouth – slight asymmetry.
• Grade III. Moderate dysfunction – obvious but not disfiguring asymmetry, normal symmetry and tone at rest. Forehead – slight to moderate movement. Eye – complete closure with effort. Mouth – slightly weak motion with maximum effort.
• Grade IV. Moderately severe dysfunction – obvious weakness with possible dysfunction. Forehead – no motion. Eye – incomplete closure. Mouth – asymmetric with maximum effort.
• Grade V. Severe dysfunction – only minimally perceptible motion, asymmetry at rest. Forehead – no motion. Eye – incomplete closure. Mouth – slight movement.
• Grade VI. Total paralysis – no movement at all at any level, obvious asymmetry at rest.

The study found electroneuronography to be a good prognostic indicator of facial nerve palsy. 97% subjects whose muscle action potential were within 51%-95% of normal made grade I or full recovery of the facial nerve, with degree of recovery decreasing with decreasing muscle action potential as determined by electroneuronography. The accuracy of electroneuronography in predicting the prognosis was 97.6%. Hence electroneuronography is an useful prognostic test to determine whether early surgical intervention is needed or medical intervention will suffice. Surgical decompression is recommended when the intact facial nerve fibers falls below 10% of the normal as determined by electroneuronography, measured within 14 days of onset of symptoms.

Reference:

Danielides, V., Skevas, A., & Cauwenberge, P. (1996). A comparison of electroneuronography with facial nerve latency testing for prognostic accuracy in patients with Bell's palsy European Archives of Oto-Rhino-Laryngology, 253 (1-2) DOI: 10.1007/BF00176700

A new aspirin preparation: Possibility in prevention of colorectal cancer?

A recently published study in The Lancet has shown that low dose aspirin (acetylsalicylic acid) intake reduces the incidence and mortality of colorectal cancer. The study followed participants of four randomized controlled trials of aspirin against control and one trial of different doses of aspirin with a median follow-up period of 18.3 years. The risk reduction was greatest in case of proximal colon cancers and this is important as they are difficult to detect by screening colonoscopy. It may be possible to formulate a screening and prevention program consisting of aspirin intake and regular screening to cover both proximal and distal colon. However, it appears that the aspirin intake needs to be continued for five years to have an effect.

Aspirin - new role? From wikimedia commons

The main concern about the risk of aspirin intake is the risk of GI ulceration and subsequent bleeding. The question is if the risk of GI side effects from aspirin outweighs the benefit of colon cancer prevention. In an ongoing poll at the doc2doc community of the BMJ group, the opinion seems to be divided. When I last checked, 27.38% of the respondents said that aspirin should be prescribed daily to prevent colon cancer, 42.85% of the responders said it shouldn’t be prescribed while 29.77% were unsure. Enteric coated aspirin may provide an answer. Evidence from healthy volunteers shows reduced incidence of ulceration in short term cases but long term data on aged patients is not there.

A new preparation of aspirin, aspirin-phosphatidylcholine complex (PL2200) was tested by Byron Cryer et al. in an industry supported phase II trial. The participants were healthy subjects and received either aspirin or PL2200 for 7 days. The incidence of gastroduodenal ulcers were significantly more in the aspirin group than the PL2200 group. But, this was a study on healthy population and for short duration, will the gastroprotective effect persist in long term cases as required for colorectal cancer prevention? This remains to be seen.

Update: The poll at doc2doc has concluded, 32.6% of the responders were in favor of prescribing aspirin, 40% said it shouldn't be prescribed and 27.4% were unsure.

Reference: 

Rothwell, P., Wilson, M., Elwin, C., Norrving, B., Algra, A., Warlow, C., & Meade, T. (2010). Long-term effect of aspirin on colorectal cancer incidence and mortality: 20-year follow-up of five randomised trials The Lancet, 376 (9754), 1741-1750 DOI: 10.1016/S0140-6736(10)61543-7


Cryer, B., Bhatt, D., Lanza, F., Dong, J., Lichtenberger, L., & Marathi, U. (2010). Low-Dose Aspirin-Induced Ulceration Is Attenuated by Aspirin–Phosphatidylcholine: A Randomized Clinical Trial The American Journal of Gastroenterology DOI: 10.1038/ajg.2010.436


Walker, J., Robinson, J., Stewart, J., & Jacob, S. (2007). Does enteric-coated aspirin result in a lower incidence of gastrointestinal complications compared to normal aspirin? Interactive CardioVascular and Thoracic Surgery, 6 (4), 519-522 DOI: 10.1510/icvts.2007.155788

Case of bilateral congenital ectropion

Recently I came across a case report published in the journal Indian Pediatrics by Surana I and Surana S. about bilateral congenital ectropion of the upper eyelids in a six month old infant. The child also had features of Down’s syndrome, a genetic disorder characterized by chromosomal abnormality of trisomy 21. Congenital ectropion is frequently associated with a condition called blepharophimosis, a condition in which there is bilateral shortening of the eyelid openings, both horizontally and vertically.

Ectropion of the lower lid - from NHS

Ectropion is a condition in which the eyelids are everted or turned away from the globe or the eyeball. It is characterized by epiphora or overflow of the tears. This happens because the lacrimal punctum, the opening through which the tear drains form the eye is situated on the lid margin. As the lid is turned away, the tears are no longer able to flow through their normal path. Instead they accumulate and subsequently overflow. It is interesting to note that in this case, epiphora would not be a prominent symptom. Why is it so? It is because  most of the tear is drained by the punctum of the lower eyelid as tears naturally tend to gravitate downwards. Only a small amount of tear is drained by the upper punctum and without the involvement of the lower punctum the drainage remains sufficient. Ectropion may also lead to keratitis (inflammation of the cornea) and corneal ulcer. This happens because the eye is continuously exposed to the environment; hence it is also termed as exposure keratitis.

Ectropion is subdivided according to its causes-

• Involutional or senile
• Cicatricial
• Paralytic
• Congenital
• Mechanical

Let us examine the rationale behind the diagnosis. Involutional ectropion is ruled out as the patient is an infant. Cicatricial and mechanical ectropion is also ruled out as there is not history of scar formation, injury or space occupying lesion. Paralytic ectropion follows the paralysis of orbicularis oculi, the muscle that closes the lid. It is supplied by the temporal and zygomatic branches of the facial nerve. So paralysis of the facial nerve may cause ectropion. In this case, facial nerve paralysis was ruled out. Hence we get the diagnosis of congenital ectropion.

Ectropion is one of the rarest ocular symptoms of Down’s syndrome. In this case, although there were features of Down’s syndrome, the diagnosis was not established. The management of ectropion usually aims at prevention of keratitis and corneal ulcer formation. This can be achieved initially by application of artificial tears and local antibiotics. In severe cases, surgical management is necessary to correct the defect. In this case, the condition of the patient was stable on treatment with artificial tears, hence surgery was not undertaken.

Links:

• Congenital Ectropion - Indian pediatrics