POST GRADUATE TRAINEE DEPT OF PAEDIATRICS NBMCH A 9 yr 11 months old male child born out of nonconsanguineous marriage came with complaints of Rash over face bilateral elbow knee ankle small joints of bilateral hands and feet since last 11 months ID: 1034270
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1. WHAT’S IN A NAME?DR. ABHISIKTA TUNG, POST GRADUATE TRAINEE, DEPT. OF PAEDIATRICS ( NBMCH ).
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3. A 9 yr 11 months old male child born out of non-consanguineous marriage came with complaints of: Rash over face, bilateral elbow, knee, ankle, small joints of bilateral hands and feet since last 11 months Generalised weakness since last 10 months Pain and swelling of joints of bilateral lower limb since last 10 months. Fever since last 1 month.
4. POINTS TO BE DISCUSSEDRASH- Started 11 months ago.First over face, b/l elbow and knee joint, progress over ankle and small joints of hands and feet. Started as erythematous papules- converted to shiny thickened plaques on the joints over time. Non-itchy. Photosensitive. A/w fever.
5. Not a/w cough, sore throat, runny nose, vomiting, diarrhea. No h/o atopy, eczema, asthma , allergies, recent drug intake. Family h/o similar rash, atopy, eczema, psoriasis absent.
6. WEAKNESS: Started 10 months ago. Generalised & symmetrical . H/o difficulty in combing, climbing upstairs, using both hands over thighs for standing from sitting posture, roll over to side of bed to sit up from lying down posture. A/w fever.
7. No h/o loss of sensation, numbness, tingling ,girdle sensation, root pain, abnormal movement, altered sensorium, slippage of sandals, urinary retention or incontinence, breathing difficulty, difficulty in swallowing food, nasal regurgitation of food, nasal intonation of voice, visual or hearing difficulty. No h/o contact with TB patient, no h/o cough, cold, vomiting ,diarrhea, trauma in recent past.
8. JOINT PAIN : Started 10 months ago. Insidious onset, intermittent nature. Started with bilateral elbow joint, knee joint gradually progress towards b/l wrist and ankle joints with small joints of b/l hands and feet. Associated with swelling of same joints & impairment of physical activities. A/w fever, rash, weakness. Presently resolved after taking medication. No h/o morning stiffness, migration & radiation of pain.
9. FEVER : Insidious in onset. Documented- low grade(100-101 degree F). Intermittent in nature . A/w rash over body and weakness. Not a/w chills & rigor, cough, cold, sore throat, breathing difficulty, abdominal pain, vomiting, diarrhea, burning sensation during micturation, abnormal movement. No h/o contact with TB patient.
10. ANTENATAL HISTORY - Booked case, P3L3. otherwise uneventfulBIRTH HISTORY - Immidiately cried after birth & otherwise uneventful.IMMUNISATION HISTORY – up to date. Last immunisation taken at the age of 5 yr.DEVELOPMENTAL HISTORY- normal as compared to his peer group.FAMILY HISTORY- no history of similar disorder in family.SOCIO-ECONOMIC HISTORY- according to Modified Kuppuswamy scale, the family belongs to lower middle class.
11. TREATMENT HISTORY11 months ago child at 1st presented to a local hospital with complaints of fever , weakness, joint pain with swelling of bilateral ankle and knee joints. On that time he was diagnosed as acute rheumatic fever and treated with Tab Aspirin( 375 mg) QDS for 3 weeks. Tab Prednisolone(2mg/kg/day) for 3 weeks. Inj Benzathine penicillin(1.2 MU) 28 days apart.
12. Following the Rx Joint pain and swelling Rashes became subsided. thickened plaque.Fever was partially relieved. Muscle weakness gradually progressive.
13. Persistence of rash and progression of weakness gives rise to the suspicion of some other underlying disease rather than acute rheumatic fever so we stopped benzathine penicillin. we started tapering down the steroid over time and stopped gradually, put on NSAIDS s.o.s.
14. EXAMINATION OF PATIENTGENERAL SURVEY: Alert, conscious, interested in surroundings. CARDINAL SIGNS- Pulse: 88 beats/min,with regular rhythm, normal volume, No radio-radial or radio-femoral delay. All peripheral pulses are equally palpable.Condition of arterial wall- normal. BP: 102/68 mm of Hg, between 50th&90th percentile,which is normal for age.
15. Temperature-37degree celsius. Respiration-26/min. Mild pallor was noted. No signs of cyanosis,icterus,oedema,clubbing Neck veins were not engorged, Neck glands were not palpable. Decubitus of choice. Facies- blue-violet discoloration of b/l eye lids (Heliotrope rash). Erythematous photosensitive malar rash involving bilateral naso-labial folds.
16. ANTHROPOMETRYWeight- 23 kg.Height -132 cm.Head circumference- 52 cm.Arm span-126 cm.US:LS- 1.1:1
17. REGIONAL EXAMINATIONHair- sparse, thin hair. Alopecia over b/l tempero-parietal area.Face – blue-violet discoloration of b/l eye lids (Heliotrope rash). Erythematous photosensitive malar rash involving bilateral naso-labial folds.
18. Shiny thickened plaques over metacarpo-phalangeal joints, proximal interphalangeal joints,elbow,knee ankle and small joints of toe(Gottron papules).
19. SYSTEMIC EXAMINATION
20. MUSCULO-SKELETAL SYSTEM EXAMINATION:Symmetrical gross wasting present in b/l upper & lower limb.Thick shiny plaques seen over metacarpo-phalangeal, PIP, knee,elbow,ankle joints and toe.Swelling , deformity , venous prominence absent over bones, any joint, soft tissues, tendons.Tenderness of proximal muscle group of b/l upper & lower limb ( eg: Deltoid,Hamstring, Adductor) present.
21. 5. Tenderness and crepitation over all bones and joints absent.6. Over-head abduction(>90 degree) of b/l upper limb not possible . Child has difficulty in standing up right from sitting posture ,takes support of hands over b/l thighs. ( GOWER SIGN- present), also has difficulty in sitting from lying down posture( roll over the bed to the side). Movement of rest of joints and limbs are within normal range.
22. No significant abnormality was detected on examination of central nervous system, respiratory system, alimentary system and genito –urinary system.
23. RELEVANT INVESTIGATIONS
24. PREVIOUS INVESTIGATIONS(ON NOV,2020) PARAMETER VALUE Hb 8.4 gm/dl TLC 7880/cmm( N – 70%, L- 27%) PLATELET 186 x 10^3/cmm CRP Reactive (1:4) dilution ESR 42 mm at 1st hour. Sr. Urea 21 mg/dl Sr. creatinine 0.6 mg/dl Sr. Na+ 136 mmol/lit Sr. K+ 4.2 mmol/lit LFT WNLMPDA – Negative.WIDAL: TO & TH > 1:160. AH & BH > 1:40.ASO Titre > 400 IU/ml.RA Factor – Reactive at (1:8) dilution.
25. INVESTIGATIONS ON ADMISSION(ON MARCH, 21)
26. PARAMETER VALUE Hb 8.8 g/dl TLC 5780/cmm. ( N -66%,L-29.6%) PLATELET 231 x 10^3/cmm ESR 84 mm in 1st hour CRP 1.51 mg/lit Sr. Urea 14 mg/dl Sr. creatinine 0.5 mg/dl Sr. Na+ 137 mmol/lit Sr. K+ 4.1 mmol/lit Sr. Ca 2+ 8.9 mg/dl LFT SGOT- 372 U/lit, SGPT -208 U/lit
27. URINE R/E,M/E : WNL.24 hr URINE : Creatinine – 15.50 mg/dl. Protein – 0.57 gm/day. Total urine volume – 2800 ml/day. Up : Uc – 1.3 :1. Urine protein – 26 mg/ m2 / hr.CBNAAT OF SPUTUM AND GASTRIC LAVAGE : No MTB detected.
28. MUSCLE ENZYMES : Sr. LDH - 2623 U/lit. (Elevated) Sr. Aldolase – 27.40 U/lit. (Elevated) Sr. CPK – 45 IU/L. (WNL)SEROLOGY : HBsAg , Anti HCV, HIV 1&2 – Non reactive.ANA with Hep 2 titre : 2+ in 1:320 dilution, Nucleolar and cytoplasmic pattern.Anti Ds DNA: Positive (0.83 U/ ml).Serum C3 : 94 mg/dl (Borderline low) Serum C4: 30 mg/dl (WNL)Bone marrow aspiration shows: Iron deficiency anemia.Renal biopsy – was planned but could not be done as patient was unstable.
29. Chest x-ray- NAD
30. MRI OF B/L LOWER LIMB USING T2 WEIGHTED IMAGES AND FAT SUPPRESSION: Loss of normal girth of thigh with thinning of muscles. All muscle are edematous and hyperintence –predominently in adductor group and bilateral Hamstring muscle group, bilateral gluteous muscle. Features suggestive of myositis.
31. EMG studies of muscles of bilateral lower limb: shows- predominant normal spontaneous activity with short , polyphasic,small motor unit potentials during volitional activity from all sampled muscle. - These findings are suggestive of typical myopathic pattern of weakness.
32. ECHOCARDIOGRAPHY: Shows – Mild PAH with PASP - 28 mm of Hg. Mild TR with TRG – 21 mm of Hg.
33. MUSCLE BIOPSY SHOWS: Atrophic fibres at places.Many of this atrophic fibre are also regenerating and contain internal nuclei.Perivascular area shows sparse chronic inflammatory cell infiltration. Impression: Inflammatory myopathy .
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35. Classic rash: Heliotrope rash of the eye lid & Gottron papules.Proximal symmetrical muscle weakness.Elevation of muscle enzymes ( Sr. LDH, AST, ALDOLASE).EMG shows – Short, small, polyphasic motor unit potentials.Muscle biopsy shows- Inflammatory myopathy.ANA with Hep 2 titre & Anti ds DNA – Positive.Serum C3- Low24 hr urine – Proteinuria ( 26 mg/m2/hr.)S/OJDMS/O LUPUS NEPHRITIS
36. FURTHER INVESTIGATIONAnti U1 sn RNP Ab – Positive . (value: 30.42 units) [cut off - 20].Anti Jo1 antibody - NegativeP – ANCA – Positive.C- ANCA – Negative.Anti SSA Ab & Anti SSB Ab – Negative.Anti LKM Ab & Anti SMA Ab : Negative.
37. JDM LUPUS NEPHRITISRF+ POLYARTHRITIS MCTDANCA + VASCULITISHeliotrope rashGottron papules.Proximal symmetrical muscle weakness.Elevated muscle enzymes EMG – Short, small, polyphasic motor unit potentials.Muscle Biopsy- Inflammatory myopathy . Photosensitive malar rash.ANA with Hep 2 titre & Anti ds DNA – Positive.Serum C3 – Low.24 hr urine – Proteinuria. ( 26 mg/m2/hr.)Pain and swelling of joints of bilateral lower limbs.RA Factor-Reactive at (1:8) dilutionClinical features of JDM. Clinical featurs of Lupus nephritis. Clinical features of SOJIA.Anti U1 sn RNP Ab – Positive .P – ANCA – Positive.
38. JDMHeliotrope rash Gottron papules.Proximal symmetrical muscle weakness. Elevated muscle enzymes EMG & Muscle Biopsy- Inflammatory myopathy . LUPUS NEPHRITIS: Photosensitive malar rash.ANA with Hep 2 titre & Anti ds DNA – Positive.Serum C3 – Low.24 hr urine – Proteinuria. ( 26 mg/m2/hr.)SOJIA:Pain & swelling of b/l lower limb.RA Factor – reactive.Anti U1 sn RNP Ab : PositiveMCTD(Features of JDM, LUPUS NEPHRITIS,SOJIA)P ANCA: POSITIVE
39. MCTD with ANCA + VASCULITIS
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42. MCTD WITH ANCA + VASCULITIS
43. TREATMENT RECEIVED- Injection methyl prednisolone pulse(30 mg/kg) for 3 days followed by oral prednisolone (2 mg/kg)& Hydroxychloroquine.After receiving the treatment the rash, weakness & joint pain improved.We are following this case to see how the disease evolves.
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