| Provisional Diagnosis | - | SHTN
Hypothyroidism
P.Neuropathy/Pan dysautonomia(ED,atonic bladder,Diarrhoea,Postural hypotension-Frequent falls)
Cardiomyopathy
Iron Def Anemia?Systemic AL Amyloidosis to r/o Carcinoids | |
| Final Diagnosis | - | Systemic AL Amyloidosis(Biopsy proved)
Hypothyroidism | |
| History and Findings | - | Senior project officer from Canada
A K/c/o SHTN since Jan 2010 General Medicine AIMS
P.Neuropathy Jan 2010 seen in AIMS Neurology
Hypothyroidism 3yrs on Rx
Hypertrophic Cardio Myopathy (HCM) Jan 2010 AIMS
Esophagitis/GERD evaluated in Gastro Med AIMS May 2010
Erectile Dysfn & urinary retention since May 2010
presented to mewith loose stools 20-25 times/day associated with tiredness,diziness,presyncopal epiosode with frequent falls,wt loss of 14kg over last 1yr.Admitted in 24/11/10 DOD:21/12/10
MDCT abd contrast 18/05/10-N study,Echo-12/05/10-Hypertrophic cradiomyopathy EF-60% | |
| Investigation | - | Postural Hypotension++,Hb-12.3-10.84,ESR-8,Blood urea-33.2,Creat-1.2,Caorrected ca-9.3,Mg-2mg,Na-135,K-4.6,A/g-4.10/2.2g,LFT/GGT-normal,Ck-64.4,CKMB-7.2,Uric acid-5.1,LDH-147.4,Retics-0.49%,serum.Amylase-66.1,lipase-90,S.iron-7.3,Fe-299.51,HBA1c-5.8,HIV,anti HCV,HBSAg-neg,VDRL-NR,TPHA-Neg,24 hr urine 5HIAA-neg,ACE-18 (N),beta 2 Microglobulin-3.1(High),C-ANCA,P-ANCA-Neg,ASCA IgA-5.24 Neg,IgA-99.65,IgG-785.42,IgM-26.91,S.Kappa free lite-26.95,Lambda-64.7(high,)urine ACR-7.9mg,Beta HCG-<1.20,AFP-0.80,CeA-1.94,PSA-0.565,Urine PBG-Neg,Cryoglobulins-neg,TSH-5.02,FT4-1.47,TPO-88.5,Cortisol-16.4,Urine culture-No growth,Blood culture-Sterile,Stool culture-no Enteropathogenic organism,USG abd-Prostate 20cc,PVR-500ml,OGD scopy-LA-C (GERD),Colonoscvopy-Caecum shows edematous mucosa with nodules.Biopsy 27/11/10-Non Caseating epithelioid granuloma,rectal biopsy-neg for amyloidosis,Echo-25/11/10-Thickenned ventrivular valve longitudinal contactility reduced,Gr I DD, consistent with HCM,Possibility of Amyloidosis.Cardiac MRI contrast 2/12/10-Mod concentric LV Hypertrophy,no features of Myocardial infiltrative desorder,BM aspiration 2/12/11-Cellular marrow with trileneage maturation,BM Biopsy-N,BMFT study-04/12/10-Gastro oesophageal reflux noted,Abd fat pad biopsy 10/12/11-Fibrofatty tissue with few vessel/No e/o inflamation or abnormal deposit,Congo red neg,MRI L-Spine-14/12/10-Early disc degeneration L4/5 & L5 S1,CT Chest contrast HRCT 20/12/10-Minimal central bronchiectatic changes in RML,repeat rectal biopsy 21/12/10-No e/o amylo noted,congo red stain & Kappa Lambda study neg for Amyloidosis & light chain deposition
Skin biopsy-LM & IF-No e/o Amyloidosis special stain(Congo red neg)IF IgG,IgM,IgA,C1q,C3,kappa,Lambda-neg
Urology studies-Significant PVR-500ml,Prostate normal,no e/o BNO,uro flowmetry,Cystometry confirmed atonic bladder for which they advised self catheterisation (CISC)
Neuro consultation-Severe autonomic dysfn considered autoimmune dysautonomia & IVIG 25g/day x 5d given with no benefit.Pt being from Canada schistomial IgG ab on19/12/10 <1.00 (neg),Serum TB IgM was Neg,S,Calcitonin<2pg/ml (Neg),Sural nerve biopsy (Lab no-s-10-13277 NIMHANS)24/12/10-12 nerve fascicles,2-3 of the endoneurial vessels show perivascular pink homogenous material resembling which on congored stain shows apple green birefringence.Kpal stain shows uniform ,selective small fibre loss.Few endoneurial vessels shows hyalinised walls as do the epineural arterioles which also exibit mild perivascular lymphocytic infiltrate.Neovascularisation os also noted
Impression;Amyloid neuropathy,sural nerve
| |
| Treatment | - | Case referred to medical oncology on 11/01/2011
Tab.Melphalan 5mg bd,Tab.Wysolone 40mg od x 4days to be repeated monthly wef 11/01/11
LT4 112mcg ,Fludrocortisone 100mcg,Bifilacbd,Folvite 5mg ,Lyrica 75mg bd,Nortryptillin 25mg bd,Fefol Z od,Norflox 200mg 1od,Cordorone 100mg 1od,Mododrin 2,5mg 1 sos,Loperamide 2mg TID,Domstal RD 1od | |
| Follow Up | - | since chromogranin A was high in KIMS Hospital TVM (during my leave)pt underwent octreotide scan with PET CT for carcinoids & MIBG scan to r/o Pheochromocytoma both at B'glore were N studies
R/w on 15/03/11-No episode of postural hypotension or syncope,frequency of stools controlled on Loperamide.BP-140/80 lying & standing,CRP-0.50,corrected ca-9.2,creat-1.1,Na-140.K-3.4,ESr-6,Hb-11.2
Continue same management.Pt fit to travel abroad & to join duty,Monthly inv & 3monthly tests as advised | |
Shaji Kumar,53yrs /M 24/11/10 Canada
doctor bhaskaaran
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