One of the most challenging cases I have ever been asked about was regarding a 31 year old Caucasian man. When he walked into the Rheumatology clinic, referred by his GP with arthralgias and a raised, fluctuating CK, even the junior doctors felt he was a straightforward case of acromegaly. He had the classical facies, a large tongue that he felt was "growing" and tingling in his hands. CK fluctuated between 270 and 2000, yet muscle power, EMG and muscle biopsy were normal, as were numerous tests for metabolic myopathy.
He also reported more than one episode of near loss of consciousness. He saw the neurologists with this, who felt this was syncope. A tilt table test showed a sharp drop in BP while upright, associated with tachycardia.
Baseline IGF-1 and timed levels of Growth Hormone after stimulation with glucose were normal. MRI of pituitary revealed a microadenoma.
ECG was not done.
Echo was reported as normal. However, when you looked at the detail, the LV size was the upper limit of notmal, the left atrium was dilated and the E:A ratio at the mitral inlet was at the upper limit of normal at 1.48.
Nerve conduction studies showed no evidence of entrapment neuropathy at the wrist. Autoimmune screen, including every conceivable autoantibody in the book, was negative. Inflammatory parameters were normal.
Can you suggest a diagnosis?
.....possibly excessive ACTH producing Microadenoma of Pituitary,leading to Cushing syndrome,with effects of a raised BP,hypocalcemia,,with low osteoblastic reactions leading to Arthralgia as the presenting complaint...begining of restrictive filling of LV with LA dilation,possible precipitation of DM with insulin resistance leading to tingling sensations,presyncopal feeling indicating Postural orthostatic tachycardia syndrome..possibly cardiac arrythmia...cardiac morbidity with elevated CK due to prolonged cortisol action...feel the need for ECG.....its a terrible attempt pl do bear...at least I am trying to figure it out.....tnx
ReplyDeleteAplogies. I should have mentioned that he has had extensive endocrine investigations, and no evidence of hyper- or hypo secretion of pituitary hormones was found. The pituitary microadenoma is therefore non-functioning- an incidentaloma.
ReplyDelete....oooops.....!!!.....give me a sec will grapple with it tonite...Gr8 to be in touch with u....meantime here its raining pts like cats & Dogs....few insights nd ur short comments will be welcome...1)Shameem m/19 Fever case : currently Platelets at 35,000/cmm & TLC 1900/cmm, Polymorphs 80%, 2) Maldivian Md.Saeed 38/m,sea farer,B/L groin strawberry color blotches with raised margins with Genital warts nd intense Pruritus: 6mths duration with self medication with Betnovate C 3) Samir sikdar Restaurant boy frm Kolkata m/28,recently managed for Urticaria 1mth back, revisits with generalised Urticaria,extreme tenderness B/l Gluteal region with adherent skin tautness & Intense pruritus, 4) Rumel Ahmed recently treated for Oral thrush ,streptococcal pharyngitis reporting back in 3wks with intense burning sensation throat,difficulty in Deglutition,swelling of lips nd tongue like an inflammed geographic tongue.5) Ibraheem 30/m Fever,Platelets 1,45,000/cmm 2days back today at 1,03,000/cmm unabated fever & now with Widal +ve 1:160 for O & H S.Typhi, 6) Md Harun 46/m B/l K jt pain with LBA ASOT>200,7) Jahangir m/37 Pain Praecordium & Subcostal margin, ECG Normal, ASOT>200 8) Shaheefa Ahmed f/41,Maldivian ,Fever with Polymorphs @ 86%, PCV 38%, Hb% 9.9gm/dl, Thallasemia carrier.9) Aishath Niyama ,Maldivian f/23 ,hard swelling L hand base of 2nd & 3rd Metacarpal, tolerable pain ,looks like a ganglion wants to avoid Surgeon & resort to the Bible which I hv politely declined...Tnx..
DeleteOne case at a time please, Shonkus!
ReplyDeleteCase number 3 intrigues me. How long does a crop of urticrial lesions last before improving? Less than or more than 24 hours?
Given his origin in Kolkata, there is a very strong likelihood that this is due to an underlying parasitic infection. I'd check for eosinophilia, serum IgE if possible, and send stool off for ova, cyst and parasites. If stool shows parasites, I'd treat with relevant antihelminth. If stool is negative for parasites, but patient has eosinophilia, I'd treat for filaria (tropical eosinophilia).
Surely...Actually the Kolkata guy visited me after nearly 15 days...with the same complaints of Visible urticaria but this time with Gluteal region tenderness & intense pruritus....yes, hv asked for the tests....Helminthiasis is rampant here & Eosinophilia in equal measure....as to the case posted by u : Idiopathic HyperCkemia is often associated with Hypertension..N.LOC is it TIA?....clueless abt the arthralgias the chief complaint...pl enunciate & elaborate.....now tht I hv exhausted all options.....!!!
Delete.....Three cases today, with Jt.pains reported ASO T >200. I am a bit alarmed over the regularity,do you suggest heavy dose of Aspirin ,in addition to oral Penicillin or Azithromycin with omeprazole. Now @ clinic, regularly : Throat C/s for a chronic bad pharynx with cough, report Streptococcal inf A & frequently B ranging frm + to ++++.Do I hv to be alert for any complication nd how do I plan prophylaxis...how do I initiate a study linking all these findings....?...Tnx....
DeleteA few scenarios here.
ReplyDelete1. Streptococcal pharyngitis without joint pains or carditis: Simply treat with antibiotics for 10 days. No aspirin, no antibiotic prophylaxis required.
2. Adults with Strep pharyngitis with joint pains 2-4 weeks after sore throat, with raised ESR, CRP. Acute rheumatic fever is a condition that affects children or adolescents and is rare in adults, so if you getting that many grown men with +ASO, there are two possibilities.
First, I do not think they have rheumatic fever. They may however have post streptococcal reactive arthritis, which presents with oligoarthritis a few weeks after Group A Strep pharyngitis. Management would be with standard NSAIDs (naproxen, etc) with steroids reserved for the more severe cases. This should be self limited. No further intervention is required.
The second possibility is that the raised ASO titres are a lab error due to a defect in standardization. Anti- DNAse B is the other streptococcal marker that can be sent, if available. If subjects are consistently ASO+ but anti DNAse B negative, there is a problem with the ASO assay.
3. Fever, joint pains, against a background of strep sore throat in children or adolescents. High probablity of acute rheumatic fever here, so manage on lines of rheumatic fever.
.......just an hr ago concluded Eve clinic, returned home nd immediately got back to Science blog.....today Murad 19/m presented with parasternal pain nd reported ASO T>200 nd CRP +. Appreciate ur enunciation of RF which has cleared my mind....anti DNAse B, I can get frm SRL Mumbai with whom we hv tie up....DHL courier would take our samples on Wed/Sun by plane to Mumbai nd reporting online.....just see..!.. how best we try for the community of a remoteness. Would like to share with u this: Asanul Haq 46/m reported yestday with uncontrolled DM II, with an Ulcer 1"x1"x1/4" on his L Lower limb mid 1/3rd Tibia,with an circumscribing area of Diam at least 5" of Dark,Pale skin with complaints of pain.Today's FBS & PPBS stood at 165mg/dl nd 300mg/dl respectively.Checking his old discontinued medication I adjusted nd put him on Glimepride 4mg BD ,Metformin 1000 SR at lunch,with Mecobalamin OD.Does such pt with a Non healing Ulcer need Insulin at the onset or oral Hypoglycemics be given a trial, keeping in view his current sugar levels & Pt. noncompliance of insulin,also, does Insulin hv a better track record of Ulcer healing. in this particular case how u would hv proceeded keeping in mind the anxiety of Pt nd the treating doctor...!!...also normally I will prescribe Metformin 1000 SR late evening,in this case sqeezing this Metformin 1000 SR dose in between the Glimeperide dose is it rational....?...wht should be the follow up time when healing is just discernible...?....Tnx....!!
DeleteLooking at his blood sugar, it'd be a struggle to achieve glycaemic control and by extension, healing of the ulcer through OHAs. Insulin would be advisable.
ReplyDeleteI am aware that insulin is expensive for some of these patients. Perhaps some of the older, cheaper versions such as NPH twice a day would be affordable? Metformin may be continued.
There are other issues as well. The location and the associated pain suggests associated ischaemic/venous aetiology apart from diabetes. Further, is the ulcer infected? Is there a chance of underlying osteomyelitis? If so, antibiotics such a clindamycin, with or without doxycyclin will be required.
Healing may take a long time, depending on presence of neuropathy/ischaemia/infection. Several weeks will be a minimum. Several months may be possible.
......a TCDC done was normal,Wound C/s is ordered...will motivate him for NPH...yes he is a cook...long standing hrs....varicose ulcer can't be ruled out..will re examine....Ibrahim's case referred to earlier with DF & with Widal positivity...the Platelets on presentation was 145000,thereafter 1,03000,& 84,000/cmm till Thursday.Today's followup indicated improvement to 1,15,000/cmm but Lab reported heavy agglutination...couldn't comprehend tht with pt constitutionally better nd with Platelets improving this heavy agglutination of Platelets as Lab confirmed as clumping whether gud or bad..?...want to release him tomorrow for his job is on the wire....but little confused abt the report...!!....for my Diabetic clientele will it be prudent to prescribe Cardace(Ramipril)for its cardioprotective role...??...my experience with Cardace 5 mg as a not very potent anti Hypertensive agent but in DM II cases will it prempt vascular changes...?..Tnx..Also would like to hear whts the Dx for Ur last case "Acromegaly tht wasn't"...I thought in terms of Idiopathic HypercKemia whr HTN is asssociated often, but cant figure out the Arthralgia his presenting complaint...!!
DeleteWouldn't worry about the platelet clumping. Happens when the sample has been stored for a while. The actual platelet count is likely to be higher.
DeleteRamipril is a great drug for diabetics, particularly if they have any degree of proteinuria. It is nephro-protective in these patients and prolongs time from development of proteinuria to overt CKD.
It is also the first choice anti-hypertensive in diabetics without proteinuria because of its reno-protective effect.
Please check U&Es a week after starting.
Thanks for giving it a go, Shonkus. We are still pursuing investigations, but I believe this young man has primary amyloid.
ReplyDeleteThe macroglossia and bilateral carpal tunnel type symptoms are clues, as is the postural hypotension and tachycardia causing syncope in one so young. His intermittently raised CK, is, I believe, from the heart.
On Echo, the LV looks thicker than normal, the left atrium is dilated, and the high E:A ratio suggests diastolic dysfunction, all characteristic of cardiac amyloid.
I believe he'll turn out to have ATTR, a hereditary amyloid of the heart, caused by mutations in transthyretin (also called pre-albumin or TTR). Cardiac MRI should show pan-left ventricular delayed gadolinium enhancement, characteristic of amyloid, and the previous muscle biopsy specimen can be stained with Congo red to detect amyloid deposition in blood vessels.
......Tnx....will attempt a reply to ur chest case tonite...structural damage to the ANS due to Amyloidosis,leading to Autonomic dysfunc.could be a cause for the Orthostatic faints...I toyed with this idea but was not too sure....permit me to place today's follow up case: Dibajyoti guha frm Assam 31/m k/c HTN,DLP,today Dx DM II,VDRL positive,TPHA Positive (1:640),with detection of Syphilis antibody,no other complication is visible nd contact history is 6mths @Delhi,how bad is this?...have ordered Inj.Penicillin G which is currently not available here,ur thoughts...? ,Mizanur Rahman presents with involuntary Left upper eyelid movement in the upward direction upon Mastication giving him a demon like look as suggested by his frnds who r not willing to partake lunch with him at wrk site...
DeleteCase 1: Non-treponemal and treponemal tests both positive. Therefore, highly specific for active syphilis, unless patient has previously been treated for syphilis, in which case TPHA will remain positive and VDRL titre may decline slowly.
ReplyDeleteIf Pen G not available, choice between doxycycline 100 mg BD for 14 days or tetracycline 500 mg QDS for 14 days or single dose azithromycin 2g stat. However, likelihood of resistance to azithromycin exists, hence doxycycline or tetracyclin more certain to provide cure.
2. Classical case of facial synkinesis. Following previous trauma to III nerve, the trigeminal nerve has innervated levator palpebrae superioris. When the muscles of mastication are activated, so is eyelid elevation.
Best treatment: botox injection into upper eyelid by experienced operator. Repeats needed q 3 months, and risk of ptosis.
....Superb...!!...yes I hv put him on Doxycycline. Botox Inj.not available here...he can be sent Home@B'Desh for a proper mgmt in safe hands..Tnx..Also,Abul Kalam khan 24/m reported two days back with Pain throat with Fever nd difficulty in deglutition T-37'C,P-108/mt,BP 106/70mmhg, Vague swelling at R SC muscle medial border.Ordered Throat C/s nd Thyroid profile which indicated today +++ B Streptococci susceptible to AmoxyClav nd Cipro,the T3 :270.17ng/dl,T4 :19micg/dl,TSH 0.01micIU/ml. Now here is a piquant situation of Hyperthyroidism nd B Streptococcal URTI....put him on Neomercazole nd Cipro.Wil attempt a reply tonite to the CXR case of the Nonsmoker Lady with Eosinophilia...!!
DeleteShonkus, I am replying urgently, as this is NOT thyrotoxicosis. This is a case of De Quervaine's thyroiditis (also called subacute thyroiditis) with classic symptoms of throat pain, difficulty swallowing, fever and a thyroid profile that is because of release of thyroid hormones from an inflamed thyroid causing a suppressed TSH.
ReplyDeleteThe treatment of choice is NSAIDs or steroids. For quick relief, I'd recommend prednisolone 40 mg daily to start with. There should be significant improvement within 48-72 hours, after which, please reduce dose of steroids by 5-10 mg every week. If symptoms return while weaning, increase dose slightly for a while and try reducing again after a couple of weeks.
Anti-thyroid drugs are NOT indicated as the hyperthyroidism will be short lived. If he has somatic symptoms such as tremor anxiety etc, a small dose of propranolol for a couple of weeks may be tried but is usually not necessary.
Fifteen percent of patients eventually become hypothyroid, so please repeat TFTs after 3 months. Would recommend discontinuation of neo-mercazole ASAP.
Strep throat swab is probably a red herring, but antibiotics unlikely to do harm.
....Tnx for Ur prompt intervention & already stopped Neomercazole....& explained him the review...pain mgmt initiated...will read the Thyroid Chapters again especially the variety De Quervaine's Thyroiditis...I got misled by the Tachycardia...but there r no signs of tremors though usual Anxiety is present...!!!...Tnx for the salvage...!!!
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