Case discussion

CASE DISCUSSION

DR.W.A.P.S.R. WEERARATHNA

REGISTRAR IN MEDICINE

WARD 10/02

• George Fernando, a 14 year old school boy from Jaffna who had been investigated for incidious onset abdominal distention & intermittent abdominal discomfot for last 2 years duration.

• Paediatric wardM/C for further evaluation.

• Apparently well.

• Initial genaralized ill health+

• C/O recurrent abdominal discomfort+

• Parents have noticed mild,incidiousabdominal distention

• No altered bowel habits,bowel or bladder incontinance.

• LOA+ but No noticeable LOW

• About 6/12 followed up under a GP

• No H/O recurrent febrile episodes

• He gradually devaloped fatigue,lethargy but no behavioral changes,headaches or seizures.

• School performances gradually deteriorated.

• After about 4 months he had a bout of haematamesis which he got admitted to a LHTHJ for further evaluation.

• His UOP was normal along the course of the illness & no F/O LUTS.

• No H/O dark urine,pale stools or pruritus of the body.

• No H/O any haemorrhagic diasthesis or H/O any bone pains.

• He denied progressive SOB, palpitations or any CP over this time.

• No H/O chronic cough, haemoptysis, recurrent H/O URTI & no contact H/O PTB.

• He denies a H/O arthralgia of small joints,swelling of hand joints or skin rashes.

• No photosensitivity,hair loss ir recurrent oral ulcers.

• THJ underwent battery of invasive/noninvasive investigations

• At present, ADL near normal,atteds school regularly & continous follow up in the M/C

• PMH- no CHD

• PSH-Nill

• DH-Not on any long term medication

• ALLERGY-Nill

• BIRTH Hx- NVD, Devalopment milestones appropriate according to the age. Parents-consanguinity+,He received all vaccinations according to the EPI schedule.

• FH-2 younger sisters-NL, No significant FH of a note.

• SH-Studies at grade 8.Father is a mason. Mother is a HW. Monthly income is not adeqate for the expences. Knowledge about the illness seems to be inadequate.

EXAMINATION• Pale-mild

• Not icteric

• L/S partial ptosis+

• BMI-19 kgm-2

• Skin complexion NL

• No finger/toe clubbing

• No cervical adenopathy

• Not febrile.

• Not dyspnic.

• No B/L ankle oedema.

• AS- Mild distention+,Non tender, Moderate hepatomegaly+ firm,margin-regular,surfacesmooth

• Mild splenomegaly+, No ascites, No ballotablekidneys

• CVS- BP- 110/70mmHg,No postural drop. PR-88/min, HS-NL, No detectable cardiac murmers. JVP-NL.

• RS- VB+, No added sounds in the lungs.

• CNS- Gait-NL,No objective limb weakness,Noincoordination,No tremors,speech-NL,L/S partial ptosis+, No external opthalmoplagia, sensory-NL ,Fundoscopy-NL

SUMMARY

• This 14 year old school boy has a 4 years H/O incidious onset abdominal discomfort, distention ,genaralized ill health with a one bout of mild haematamesis.He has a poor school performance & regularly followed up in the M/C.O/E he has a partial ptosis in L/S & has mild pallor.AS exam revealed moderate hepatomegaly with mild splenomegalywithout evidence of ascites. The rest of the systemic exam NL.

INVESTIGATIONS

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FBC

FBC 27/01/2014 24/04/2014

Hb 11.1 10.2 10.20

RBC 4.62 4.01 4.2

PCV 32.07 33.0 30.90

MCV 74.2 72.00 73.60

MCH 24.30

MCHC 33.00

PLT 66 000 57 000 60 000

WBC 3800 3100 3000

BLOOD PICTURE(2011/12/09)

• RBC-Hypochromic microcytic RBCs with occ. Eliptocytes.No significant polychromasia.

• WBC-Leukopenia+,Neutropenia+

• PLT-Moderate thrombocytopenia.

• CONCLUSION-No morphological biochemical evedence of active haemolysis. ?hypersplenism. Sugests BMA.

BMA(12/12/2011)

• Normocellular particles & cell traits• Erythropoisis-normocellular/normoblastic mat• Granulopoisis-normocell./NL maturation• Megakaryopoisis-raised no. with normal mor.• Lymphocytes-10-20% of BM,nucleted cells+• Plasa cells-1-2% of marrow.• Histeocytes-NL in No.• Fe stores-Trace• Cont……

• CONCLUSION-

• Active marrow with very active megakariopoisis.

• Peripheral thrombocytopenia is likely due to hypersplenism.

• BM trephine biopsy-

• Normocellular marrow.

• No evidence of storage diseases.

RENAL FUNCTIONS

BU- 28 mg/dl

SE

S.Na+ 144 mmol/l

S.K+ 4.1 mmol/l

S.Creatinine 0.6 mg/dl

UFR

• Alb Nill

PC 1-2 /hpf

EC few

Rpt UFR NORMAL

LFT

IIU/L

ALT 57 62

AST 65 60

ALP 356 346

T.PROTEINS 7.1 6.9

GLOBULIS 2.6 2.7

ALBUMIN 4.5 4.4

T.BILIRUBINS 0.76 0.6

ESR

• 11 mm/hr 05 mm/hr 10 mm/hr

HPLC(26/01/2012)

• Hb A-88.0%

• Hb A2-2.5%

• Hb F-1.4%

• No abnormal haemoglobins

• CONCLUSION-No evidence of beta thalassaemia or Hb varient.

• Alpha thalassaemia cannot be excluded.

USS-ABDOMEN(19/04/2012)

• Liver-mildly enlarged.Genaralized increased echogenicity+ Chronic hepatic parenchymaldisease.

• Portalization of hepatic veins+

• Varices are seen in the GB wall

• Reversal of flow in the portal veinsPHT+

• Spleen is markedly enlarged.Dialated totuousveins+ in the splenic hilum due to PHT

• Cont….

• Kidneys-NL

• No para arotic or suprarenal masses.

• Aorta-NL

• Bladder-NL

• CONCLUSION-CHRONIC HEPATIC PARENCHYMAL DISEASE WITH PORTAL HYPERTENTION.

LIVER BIOPSY

• CONCLUSION-EVOLVING/ESTABLISHED CIRRHOSIS WITH MINIMAL ACTIVITY.

• THE POSSIBLE AETIOLOGY-WILSON’S DISEASE,HEPATITIS-B,D. LCH,GLYCOGEN STORAGE DISEASE TYPE-3 OR CRYPTOGENIC CIRRHOSIS.

UGIE(27/04/2012)

• Visualized up to D2.

• No gastric fundal varices.

• Grade-3 oesophageal varices+

• No evidence of bleeding.

S.CAERULOPLASMIN

• S.Caeruloplasmin44.97 mg/dl (22-50)

24 hour urine Cu excretion

• 24 hr urine volume- 400 ml

• 24 hour urine Cu – 0.14 umol/l

• 24 hour Cu excreation – 0.05 (NR-0.22-0.90)

• 24 hour Cr excreation – 0.36g

• CONCLUSION- PROBABLY AN INCOMPLETE COLLECTION

SPEP(30/12/2011)

• S.Protein-71.2g/dl

BAND VALUE RANGE (g/dl)

ALBUMIN 34.9 35-55

ALPHA 1 2.26 3-5

ALPHA 2 6.84 5-7

BETA 9.94 6-10

GAMMA 12.75 9-15

2 D ECHO(16/12/2011)

• Situs solitus+

• AV/VA cocordance=

• No ASD/VSD/PDA/Pericardial effusions

• CONCLUSION- NORMAL ECHO CARDIOGRAME.

SERUM COMPLEMENTS

• HUMAN COMPLEMENT C3114.33 mg/dl

• NR-(90-180)

• HUMAN COMPLEMENT C418.04 mg/dl

• NR-(10-40)

ANA

• NEGATIVE

HBsAg STATUS

• NEGATIVE

S.Calcium levels

• Total Calcium 7.7 mg/dl

• Remarks…….

• Diagnosis- ?Wilson’s disease

• A/W rpt urine Cu excretion + penicillaminechallenge test results….

Thank you!!!