Case Discussion- Dr Suneesh Kalliath

Dileep Raman did they mistake her for sarcoid?
Unni Krishnan can this be dermatomyositis? I have only seen one case ever and that too in an MRCP course 8 years ago, so I am no expert.
Dileep Raman yeah could be that too i guess.
Dileep Raman but the biopsy might have showed granulomas in sarcoid which may have prompted Rx
Unni Krishnan God knows what the biopsy showed
Ajithkumar Kidangazhiyathmana any history of oral ulcers? arthritis?mantaux done? what was the ESR? any other skin , nail, scalp lesions? when did the proximal muscle week ness started aner steroid?Is she still on steroid ?Any investigation result other than biopsy available?
Sandeep Padmanabhan DM with atypical rash ?
Sandeep Padmanabhan Another possibility is Lupus pernio in sarcoid, responded to steroids, but now with steroid induced myopathy.
Raghu Nath behcets,after biopsy starting of att in periphery; so we can think of sarcoid ....history of loose stools?
Padma Ramadoss BEHCETS???
Shiji Pv PROBABLY sarcoidosis whith steroid induced myopathy...or non tuberculous mycobacteria...what was ESR?cxr?but what aboutthe neuropathy?that might point towards vasculitis in a young girl....was an ANA done?
Ajithkumar Kidangazhiyathmana Vialacius ulcers can still be Lichen planus. The diagnosis of TB does not contribute much with out biopsy report
Ajithkumar Kidangazhiyathmana Behcts with out oral ulcer ....no real evidence to say sarcoidosis which is mostly a waste paper basket diagnosis
Ajithkumar Kidangazhiyathmana behcets
Ajithkumar Kidangazhiyathmana behcets--- also needs more informatin
Sandeep Padmanabhan Considering the UP hospital decision to treat with ATT, biopsy should have shown granuloma. So granulomatous diseases which might respond to steroids, cause skin lesions and neuropathy(mononeuritis multiplex) pobably should be considered. Since Suneesh has already said that it is an uncommon disease, looking in the 'waste basket' also would help us give fitting differentials. Evidence comes next.
Ajithkumar Kidangazhiyathmana can it be chron's disease? any features of this in this patient?
Raghu Nath metastatic chrons can have nutrirional neuropathy and bone mineral density disorder associated myopathy...so gi syptoms?
Madhav Menon Am neither Pediatrician/nor rheumatologist/nor dermatologist; Could be totally off..So feel free to cut me down to size…Thanks for posting this case
With the info given (no labs), one could look at the differentials in the following way: One has to keep in mind that whatever this is, started at ~7yrs, lasted for 5 yrs (without killing her), may/maynt have partly responded to Steroid/ATT..Also the quizmaster agrees that it is very rare (both disease and manifestation)..So maybe cancers are unlikely
Inflammatory diseases: Combination of mucocutaneous ulcers/Prox Myopathy/?periph nerve involvement/fever-- points to vasculitis; In childhood, vasculitis..I understand, is overall rare (MC types HSP/Kawasakis).. Genital ulcers, nodules which ulcerate (?some kind of panniculitis/or acneform lesions), eye involvement—Behcets. (rare in childhood, mean age in series ~13 yrs) Almost always oral ulcers ++ (?) . There is conflicting mention that organ involvement can be early or late (favors). Though NeuroBehcets in 10% or so, Periph N involvement is uncommon(odd). have seen a few cases in N India….
PAN—Cutaneous nodules/fever..Usually HTN even in children (?). Abdominal involvement is common. So is mononeuritis… Again some mention of milder/prolonged course in childhood..Prox Myopathy seen..HBV status(?)…Steroids can have significant effect alone……Appears there is a cutaneous PAN in childhood (no visceral involvement)….
Sarcoid.. Mean age is ~12 in series; Abnormal chest imaging very common; LNE is common. Granulomatous Vasculitis is described..Genital Ulcers (point away from sarcoid)..Lupus pernio (not usually in the sites observed here) Nodules are seen on the trunk though..Eye involvement of course…And it is hard to discern from TB..
I came across this condition called “Blau syndrome”—granulomatous skin lesions, arthritis (often deforming), mononeuritis –cranial(?) , chronic and AD inheritance which is being classified as a early onset variant of Sarcoid..If This is it –then yu have a case to report!
Juvenile Dermatomyositis Odd place for the rash –though skin can antedate Muscle and 80-90% JDM have heliotrope rash (?)..Ulcerative JDM seems to be really bad prognostically.. vascultitis is essential …Also in all of the above arthritis (?) family h/o (?) Growth retardation/stunting..The Cushingoid features have to be explained by steroid use..Myopathy either thereof or from Diabetes
Madhav Menon Apologies for the long post..Will think about infectious causes and post them later
Madhav Menon Infections:
TB (never say never to TB) of course…Vasculitis is seen..No age restrictions..Statistically would be more common…Would have to be disseminated… So partially treated/relapse for survival upto 5 years …
Syphilis (how would a young girl get it …stranger things have happened)…Usually single genital ulcers in primary ---very shortlived….Vasculitis is described.. The rash in 2ndary they tell me can be extremely pleomorphic..Usually this stage passes and does not recur..So the lesions she has now are unexplained….
Disseminated Mycosis: Cryptococcosis does disseminate with skin lesions; So has histo (10-15% of dissemination).. Immunosuppression is usually present.. 5 yrs without treatment is odd..
Thus without labs, and if you forced me, I would lean to Behcets as my top DD…Would investigate keeping these DDs in mind. Get some systemic radiology…Would try to biopsy anything biopsiable….Once again, I could be way off target here..
Raghu Nath ‎1 st dd of tb in chest is sarcoid and in gi tract is chrons.
Suneesh Kalliath Thanks all for participating in discussion.. Majority are right..Its a case of sarcoidosis..She had no GI symptoms..No respiratory symptoms.. No oral ulcers..Am not sure,she had h/o ankle joint pain 2 year back. Coming to investigations..mantaux was zero,Esr somethig around 40,CXR have some hilar LN,pparenchyma normal. ANA ,I thing awaited..(its an OPD cases..So need followup)..Biopsy shows noncaseating granuloma and Schaumann bodies.ACE level 110.S.ca2+9.2... Muscle enzymes elevated...
Ajithkumar Kidangazhiyathmana hmmmm
Suneesh Kalliath She as stopped steroids about 9 months back..prox muscle weakness for last 2 month only..So steroid myopathy unlikely..Sarcoidosis rarely causes smalll fibre axonal neuropathy..
Suneesh Kalliath In juvenile dermatomyositis rash is different..Child hood sarcoid early oncet(defined as <4 years) present with triad of skin leisions , arthritis and eye lasions..Lung involvement unlikely..but can occure in late onset childhood sarcoid..
Suneesh Kalliath ‎@Madhav Menon..dont know sir,it has that name ypu mentioned..Any way hearing 1st time..
Suneesh Kalliath Lupus pernio I think term for skin lesions of face affecting women..
Suneesh Kalliath ‎@sandeepaettan..Whats DM with atypical rash ?
Suneesh Kalliath Ulcers wer not undermined edges,,(from hitory only!!) Non tb mycobat ulcers will b undermined (pls confirm)
Suneesh Kalliath ‎@Ajithkumar Kidangazhiyathmana...Sir can we dignose behcet evenif no oral ulcers?
Suneesh Kalliath GLUCOCORTICOID INDUCED MYOPATHY:Diagnosis The onset of weakness one or more months after the initiation of or an increase in glucocorticoid therapy, the presence of other cushingoid features, and normal or decreasing serum muscle enzyme levels all favor glucocorticoid myopathy. The most definitive test is to decrease the glucocorticoid dose (if the underlying disease will allow it) and observe the muscle strength response. Weakness due to glucocorticoid myopathy will begin to improve three to four weeks after a sufficient dose alteration, while symptoms due to an inflammatory myopathy should worsen.
Ajithkumar Kidangazhiyathmana No oral ulcer is the major criteria.
Suneesh Kalliath ok...I doubtd because many suspected behcet here
Ajithkumar Kidangazhiyathmana There are some 35 cases of ulcerated sarcoid reported so far mostly on leg,also cases resembling crones also reported.... but i would like t have "retrospectoscopic" examination after few years because rare manifestations of rare diseases are rarer than rare manifestations of commoner diseases
Dileep Raman yes sir rare in india. Here we have a separate sarcoidosis clinic. So it changes your outlook. My Sarcoid researcher would kill me if I told him that it was a waste basket diagnosis!
Prathosh Gangahar T K Thx u for a really good discussion .. Sarcoidosis likely with the all evidences provided .. You mentioned proximal muscle weakness B/L ..likely exogenous Cushing..did u do s.cortisol before starting Rx.. if she was not started on steroids that will clinch the cause for myopathy.. steroid are grossly abused drugs in north India.present even in alternative medicine& history is often unreliable ..also ask regarding topical steroids .. small fibre axonal neuropathy wont explain proximal muscle weakness although it can be explained as cause for asymmetric onset mononeuritis multiplex in sarcoid..
Unni Krishnan Entammo! Madhav, Blau syndrome? You must be the only person in the world to know this!
Spare a thought for the intellectually challenged cardiologist on this forum when you say things like this!
I will have to go and lie down now
Ajithkumar Kidangazhiyathmana yes dileep, I agree , but In India it is rare due to probably various reason including under diagnosis. We all make diagnosis of sarcoidosis by ruling out...
Ajithkumar Kidangazhiyathmana Also I have a suggestion --hope nobody will feel bad-- when we post cases for discussion it can be atleast 3 types. 1 Case fully worked up with diagnosis posted as a challenge for others 2 Cases without diagnosis requesting help 3. cases partially worked up with possible list of diagnosis. I feel all these 3 should be seen separately. The fist group should be diagnosed in details and it can be discussed to reach the diagnosis. second group may lead to better understanding of case and better DDs, suggestions and may go on like that and those who post are requested to give feed back 3 group only will have DDs because many of these finding are incomplete, investigations presumptive,patients lost to follow up. Tn these cases we can only have a working diagnosis. I think this distinction is important other wise junior colleagues in this forum are likely to be mis lead by partial information. Expecting openion on this
Dileep Raman this is a very wise opinion. I will try an incorporate this.
Madhav Menon Unni ...Modesty to an extent only please..As yu zoom by in your Porsche, paid for by all the caths yu did last week, looking back upon other subspecialists in their Japanese cars....
Madhav Menon Suneesh -Were the granulomas from a skin lesion biopsy? How high is the CPK..Would certainly consider a M biopsy...An EMG/NCS may help too....If this was an adult I would not yet be convinced with a diagnosis of Sarcoid....I dont know about childhood Sarcoid....If you have access to Uptodate there is a reasonably detailed descritpion of Blau's syndrome.. Good job!
Unni Krishnan Do nephrologists drive Japanese cars? If so, they must drive the ones with the best particulate filters ;-)
Suneesh Kalliath ‎@pradoshettan..she stopped steroids abt 8-9 months ack..and prox muscle wknss for last 2 months..History seems to be relaible..Not done s.cortisol..Will consider that. Proximal myopathy and small fibre neuropathy rarely reported in sarcoidosis
Anoop Gopinath Good suneesh i'll share the first lesson i learned when i evaluated a case of prox myopathy during my MD days.......it was a case of dermatomyositis..........started steriods and we were very happy to see the person recover stage by stage.........one day when we went to the chest deptt we saw her admitted with pleural effusion......i learned that starting steroids alone is not enough in the complete management of patients like this........u have to screen close contacts of the patient for communicable diseases.........her husband had pulm TB................SINCE U GET REFERRED CASE FROM BIHAR AND EASTERN UP there where prevalence of TB is high always screen the close contacts.........give regard to ANSAR and JOE for me.........
Suneesh Kalliath ‎@ anoopettn..sure..Anzarkka is my close friend
Suneesh Kalliath ‎@madhav sir,Biopsy obtained from skin leisions itself..Muscle biopsy is plannd,CPK I think >600...Heard in steroid myopathy CPK is not raised usually...Will check Blaus' in uptodate,,,thank you
Ajithkumar Kidangazhiyathmana if DM, please look for a malignancy --1/3 bfore 1/3 simultaneously and 1/3 follow DM
Ajithkumar Kidangazhiyathmana Rook says" if enzyme continues to be normal inspite of clinical activity 24 hrs s creatin will be useful to defferenciate DM from steroid myopathy(if available)--ref Rowel NR Clin exp dermatol 1986,11:69-72
Suneesh Kalliath ok..so cr wil be raisd in??
Ajithkumar Kidangazhiyathmana ‎24 hr urine creatine(not creatinine)will be raised in DM not in steroid myopathy
Suneesh Kalliath ok...ok
Madhav Menon A word on creatinine excretion;
If you were to follow longitudinally somebody's 24 hr creatinine excretion, assuming that his GFR is in steady state, then the only way that increased creatinine generation can translate to increased creatinine ellimination is by elevating plasma level. Of course, the change in plasma may be so small that it is below detection range of the technique. But to put this into perspective, quantitatively, an average 60 kg man excretes 15-20 mg/kg/day(ie ~ 1 gm/day). Assuming his GFR stays constant, at 180 l/day, ser creatinine is 1.4. And one fine day he starts making more creatinine- say 100 mg/day; He can excrete this extra creatinine only by increasing the filtered load to the glomerular space ie an increase in plasma level. In this case serum level would have to go up from 1.4--1.45; if he does this he can continue to excrete the extra creatinine generated and maintain plasma level at 1.45. If he does not--eg, GFR itself changes --the extra creatinine generated will pile on everyday.
Also, this kind of study would be meaningful only in a longitudinal (sequential) manner, ie yu have to have baseline 24 hr excretion rate. And assume that nothing has changed with the actual GFR. When yu therefore interpret a 24 hr urine creatinine, to look for increased creatine generation--I would do so with these limits in mind.
Madhav Menon For those that are still interested, Clearly there is tubular secretion of creatinine - but this probably varies from person to person and GFR to GFR. It is likely that there is even extrarenal ellimination (colonic) of creatinine--this is hard to quantify for practical reasons!
Purushothaman Kuzhikkathukandiyil  Before reading the comments. i was trying to analyse the case , and when i read through the comments. i thought of writing these comments. What i teach when you analyse a case 1.Is it a neurological problem 2. Where is the anatomical location 3What is the pathology. ........Here lot of discussion where on the third point , without trying to locate the lesion. The first question, no doubt there is a neurological problmem , Second where is the lesion........Brain, spinal chord, anterior horn cell, nerve root , peripheral nerve, MN junction , muscle or a combination ................Most of the details in the case was helpful for analysing the pathological problem , not helpful for anatomical location ie answering the second question ..........Here , It is not in the brain, unlikely in the spinal parachyma ( no bowel or bladder dysfunction, no tract type sensory loss , ) no extramedullary extra or intra dural , ( no root pains. , ) .............Proximal weakness , is there .........which argues 90% myopathy /10% neuropathy . eg cidp. ..This problem is only very recent , ....two months only . the other numbness tingling and pain foot and lower legs. These argues for either root or peripheral nerve. Here suneesh you should have provided more details to help neurological analysis. ie root type, tract type or peripheral nerve distribution of the sensory problems. and more details of DTR. eg ankel jerk is crucial here . From this wide distribution i ll put the lesion as peripheral nerve and not a root. So where is the anatomical location of lesion . i ll put it as mono neuritis. and there is muscle problme also . So a combination of peripheral nerve and muscle. out of which muscle problem is recent one. When you get such a combination 1. Is it part of same neurological problem , evolvint or 2. is it due to another insult , eg in this case steroid induced myopathy.
Purushothaman Kuzhikkathukandiyil So in this case after answering the second question only you take the third question ,,,,,,,what is the pathological basis of this
Purushothaman Kuzhikkathukandiyil A peripheral nerve problem , isolated mononeuritis........and superadded myopathy , most likely steroid induced. ( here we keep an open mind. ie you have to revise and try to analyse in a different way , including this proximal myopathy plus peripheral neuritis also
Purushothaman Kuzhikkathukandiyil Here you take the all the factors helpful in analysis of peripheral nerve illness. ..........keeping in mind it is mononeuritis, ........1.Onset and course of illness, ........here she was normal upto 7 and gradual onset and progress.......for 5 long years which showed response to either ATT /Steroids. ........most probably steroids. 2. No family history (given here. which is important in many ways .......3.Any drugs , eg, heavy metals, and a lot more 3. Points arguing for vasculitis, eg, fever, skin lesion, joint , eyes. genital etc, 4.Nutritional deficiency 5. Details about sensory problems eg painful or painless.
Purushothaman Kuzhikkathukandiyil In this context other details of irregular fever, skin problems to be considered. ........multiple abscess on skin ..........may be unussual chronic infections, (funal , leishmania , atypical mycobacteria,,,,,,immunodeficiency states, ,,,,,,,,granulomatous diseases......... In the inital stages most points were for these ..................and when the eyes manifestations described we consider vasculitis
Purushothaman Kuzhikkathukandiyil in fact in this context sarcoidosis is not the first one to be considered. ..........PAN , and all vessel palpation ,renal bruit, etc should have been given importance.....in india sarcoidisos is not common at all. PAN and other vasculitis are more common
Purushothaman Kuzhikkathukandiyil Even with the investigations , given above. and the response you got , ..............i will hesitate to beleive this is sarcoidosis..................because you get response to steroid in other conditions, and because sarcoidosis is such a rare entitity ,,,,,,,,,,,,to present in a five year old............,,,,without typical features........with peripheral neuropathy onlyyyyyyyyy..........lot of odd things.
Praveen Ayyappan Nair is it Behcets disease with steroid induced myopathy ?
Purushothaman Kuzhikkathukandiyil ‎Suneesh Kalliath ,,,,,,,,please inform the follow up of this case......Because we try to include cases in to a known entity , with support of investigation only ..........in fact this may be a total new entity.........I just want to share an experience......Five years back three month old boy was brought with multiple ulcers on skin , scalp ,,,,He was in our ward , with all investigations ,,,,we gave all sort of antibiiotics. antifungal , and with our dermatology dept help we did a biopsy ,,,he was diagnosed as pyoderma gangrinosum....He was put on steroids send home ( in fact we were not conviced.) . He was from a poor family in palakkad. To our surprise he came at one year ...........no skin problmes , he was not on any drug.. thriving normal child...........At two years he came with a totally new problme, exertional dyspnea. O/E he was hypertensive .in failure and huge cardiomegaly.......ECHO showed LV disfunction,,,,,,,His peripheral pulsations were weak in lower limbs. ,,,,,renal bruit ....we did a Doppler study from here. later MR angio and CT angio from Kakkanad sunrise ( my student Rijo is there , he did free ) showed both renal arteres narrowing, ....femorals , There was narrowing in dissecting aorta..........we put the patient on steroids, later methotrexate, .......Even now he is on ..My student Dr Edvin in Amritha was kind enough to arrange stent and his renal artery stenting done.......Now his BP is high inspite of all antihypertensives.... I feel there is another type of vasculitis .......not described so far in our books........
Suneesh Kalliath Hello...really sorry for the late response,bcause engaged with new posting and thesis..Sir actually this was an opd case (when I had neuro posting in last month). ther was no evidence of absent pulse or renal brue..also no oral ulcer or photosensitive rash..CNS exmn was s/o small fibre neuropaty and proximal myopathy of LL....CXR have mild hilar adenopathy...All immuological markers were negative..ACE level was high..Skin biopsy showed noncaseating granuloma and shaumann bodies..Mantaux was zero,no albuminurea......
Suneesh Kalliath sir actually now am in nephro and I will loss further followup...Oe more thing last week we had CCR of paed dept..that was a case of sarcoidosis...Here we came across lot of adult cases of sarcoidosis..our med HOD had reported total 250 cases