FREIDRIC ATAXIA

1. Case summary
Name; SULEMAN.
Age; 15 yrs male.
Resident of; SHAHDARA.
Presented in emergency with altered state for last
1/2hour.Taking history from his mother , she told that his
son is diabetic, she told the doctor that his son before
going into altered state, was complaining of abdominal
pain followed by two episode of vomiting that was
projectile and without blood.
she also told that they omitted insulin dose for last three
days(poor compliance),No H/O diarrhoea and melena,No
H/O cough,hemoptysis and hematemesis No H/O
headache,fits and fever.Immediately BSL of this boy was
done that was beyound the range glucometer(high).

2. PAST HISTORY
She also told that they remained admitted 10 days
back in gora(AVH) ward for similar problems where
he was diagnosed as diabetic(Poor compliance).

3. Personal history: Not significant
Family history: Two brothers and two
sisters all are normal.Mother is alive and father is
dead.
Treatment history: Previously he was on
insullin therapy.

4. Depending upon above brief history what is your
diagnosis?
Diabetic ketoacidosis.

5. GPE
A young boy not well oriented in time place and
person,his
BP =90/50
PULSE =95/min
RR =22/min
Tem. =98.6 F

6. GPE…….
 Pallor +ve
 Cyanosis -ve
 Clubbing -ve
 Koilonychia -ve
 S /hemorrhage -ve
 Osler nodes absent
 Heberden nodes absent
 Boucard nodes absent
 Palmer erythema -ve
 Dupuytren contrature -ve
 Skin rash -ve
 Axillary nodes not palpable
 JVP not raised
 Thyroid normal
 Ankle edema absent
 Sign of dehyration +ve

7. CVS
On inspection; Shape of chest is normal.
On palpation; Apex beat in 5th intercostal space
just lateral to mid clavicular line,no other sound is
palpable,no thrill,no murmur.
On auscultation; Both sound normal,no thrill,no
murmur.

8. Respiratory system
On inspection; Rate 22/m abdomino thoracic
On front shape of chest is normal but on back
kyphoscoliosisas shown in diagram.
On palpation; Trachea is central,apex beat in 5th in
midclavicular line,chest movement and expansion
withen normal range,no vocal fremitus.
On purcussion; upper border of liver is in 5th
intercostal space.
On auscultation; Breath sounds are normal,no
ronchi,no crepts.

11. GIT
On inspection; Oral hygiene is poor,shape of
abdomin is normal,umblicus normal,no pulsation and
no scar mark.
On palpation; Abdomin is mild tender, no
ascites,no visceromegaly.
On purcusion; Not done.
On auscultation; B/S are audible,no bruit is
present.
Hernia and male genitalia are remakable.
PR not done.

12. CNS
HMF; normal.
Speech; is scanning.
Cranial nerves; are intact.
Motor examination;
upper limb lower limb
right left right left
Bulk N N D D
TONE N N D D
POWER 5/5 5/5 3/5 3/5
REFLEXES Present absent
Planter B/L Upgoing
Any type of muscle twiching absent.
Gait since power in LL is 3/5 patient is unable to walk.

13. CNS…
Sensory system: is remakable.
Cerebellar sign:
 Nystagmus is present.
 Speech is Scanning.
 Intention tremors absent.
 Past pointing is present.
 Dysdiadochokinesia absent.
 Rebound phenomenon is absent.
SOMI Absent.
Sign of tetany Trousseau sign and Chvostek sign
absent.

15. Musculoskeletal system
Joint are normal.
No soft tissue edema.
No joint pain.
Except patient has high planter arch(pes cavis)as
shown in figure.
And kyphoscoliosis(backword and lateral right
sided curvature)as shown in next figures.

16. PES CAVIS

19. kyphoscoliosis

20. PLATAL
ARCH

21. Investigations;
CBC;
Hb. 12.8
WBC. 7300
Platelets. 233000
Neutrophil. 65%
Lymphocytes. 28%

22. LFTs
ALT. 33
AST. 26
Alk/Phosphatase. 121
Bilirubin. o.6
T.protein. 6.6
Albumin. 3.3

23. RFTs;
B/urea 36
S/creatinin 0.5
BSL 275
S/E;
Na+ 131
K+ 2.8
Cl- 101

24. ABGs
PH 7.28
Bicabonate 11
Pco2 39
Po2
O2 saturation 90%

25. CXR

26. ECG

28. Upon all these investigation what are your DD

29. DD
Friedeirch’s ataxia
Multiple scelerosis
Poliomyelitis
Stroke
Raised intra cranial pressure
Cerebellar dysfuction
Paraplegia
Spinal cord compression
Pot disease
Transverse myelitis
Muscular dystrophy
DK

30. FINAL DIAGNOSIS
Friedreich’s ataxia

31. a