Case summaryName; 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).

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).

Personal history: Not significantFamily history: Two brothers and two

sisters all are normal.Mother is alive and father is dead.

Treatment history: Previously he was on insullin therapy.

Depending upon above brief history what is your diagnosis?

Diabetic ketoacidosis.

GPE A young boy not well oriented in time place and

person,hisBP =90/50PULSE =95/minRR =22/minTem. =98.6 F

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 Axil lary nodes not palpable JVP not raised Thyroid normal Ankle edema absent Sign of dehyration +ve

GPE…….

CVSOn inspection; Shape of chest is normal.On palpation; Apex beat in 5 t h 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.

Respiratory systemOn inspection; Rate 22/m abdomino thoracicOn 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.

GITOn 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.

CNSHMF; normal.Speech; is scanning.Cranial nerves; are intact.Motor examination; upper l imb lower l imb 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.

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.

Musculoskeletal systemJoint 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.

PES CAVIS

kyphoscoliosis

PLATAL ARCH

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

LFTsALT. 33AST. 26Alk/Phosphatase. 121Bilirubin. o.6T.protein. 6.6Albumin. 3.3

RFTs;B/urea 36S/creatinin 0.5BSL 275

S/E;Na+ 131K+ 2.8Cl- 101

PH 7.28Bicabonate 11Pco2 39Po2 O2 saturation 90%

ABGs

CXR

ECG

Upon all these investigation what are your DD

DDFriedeirch’s ataxiaMultiple scelerosisPoliomyelitisStrokeRaised intra cranial pressureCerebellar dysfuctionParaplegiaSpinal cord compressionPot diseaseTransverse myelitisMuscular dystrophyDK

FINAL DIAGNOSIS

Friedreich’s ataxia

a