Chorea Short Case

COMMAND : do general physical examination and relevant of this 5 year old boy.

Friedreich's Ataxia Short Case

Command:  Examine gait and do relevant examination.


10 Yr old Noman is s conscious cooperative oriented child with slurred speech, and obvious widebased gait, and kyphoscoliosos. He is  not able to perform tandem walking, and positive cerebeller signs as horizontal nystagmus, intention tremors, past pointing, dysdiadokokinesia, pendular knee jerk . He is unable to do heel shin test and has hypotonia. However, there are no muscle fasciculations with normal bulk and power . His DTR are are diminished, ankle clonus is absent ,  and plantars are upgoing., with pes cavus foot deformity and hammer toes.
His cranial nerve 3,4,6 7,8,10  (visible ones) (try to remember to do all)
His pulse rate is 90/min which is reg, high volume , RR is 20/min and BP is 110/70mmHg
.
He has hyperdynamic precordium, with apex beat localized in left 4th ics in mcl, with a ill sustained heave, thrill is palpable at apex, S1 is soft with grade 4/6 pansystolic murmur heard best at apex, blowing in character, radiating to axilla and accentuated with expiration. There is a harsh systolic murmur  grade 3/6 in intensity heard best at aortic area non radiating with accentuation on leaning forward and during expiration.
There is no pallor, telangiectasia in eyes, evidence of flu like symptoms , no ear discharge, mucocutaneous bleeding , no gingival hyperplasia,  or skin lesions.
I would like to know his growth parameters(abetalipoproteinemia) and do otoscopy and  fundoscopy?

D/D :

friedreichs ataxia
acute cerebellar ataxia
Cerebellar SOL
Drugs: phenytoin,bezos,pheno,carbamazepine
ataxia telangiectasia
ac labyrinthitis
abetalipoproteinemia

Cerebellar Ataxia Short case

Command : examine gait and do relevant examination.


6 Yr old Ahsan is conscious cooperative oriented child with slurred speech, and obvious widebased gait, not able to perform tandem walking, and positive cerebeller signs as horizontal nystagmus, intention tremors, past pointing, dysdiadokokinesia, pendular knee jerk . He is unable to do heel shin test and has hypotonia. However, there are no muscle fasciculations, bulk power and DTR are normal.,  and plantars are downgoing.
His cranial nerve 3,4,6 7,8,10  (visible ones) (try to remember to do all)
His pulse rate is 90/min which is reg good volume , RR is 20/min and BP is 110/70mmHg.
There is no pallor, telangiectasia in eyes, evidence of flu like symptoms , no ear discharge, mucocutaneous bleeding , no gingival hyperplasia,   skin lesions or pes cavus deformity of feet.
I would like to know his growth parameters(abetalipoproteinemia) and do otoscopy and  fundoscopy?

D/D :

acute cerebellar ataxia
Cerebellar SOL
Drugs: phenytoin,bezos,pheno,carbamazepine
ataxia telangiectasia
friedrichs ataxia
ac labyrinthitis
abetalipoproteinemia

Do abdominal examination and relevant exam of 1 year old infant who presents with abdominal distension.

Do abdominal examination and relevant exam  of 1 year old infant who presents with abdominal distension.


hepatosplenomegaly , with no signs of CLD
active, conscious ,
pale, no jaundice or edema,
no joints involved and bones normal.

D/D :
CH Malaria
Gaucher Disease(Non neuronopathic)
Neiman Pick disease type B
Thalassemia
SoJIA

I have examined 1 year old Ali who is an active,co-operative infant ,

Abdomen is distended with a central , inverted umbilicus circular in shape e no visible pulsations , striae or scar marks., abdomen is nontender, liver is palpable 4cm below RCM  e upper border in 4th ics in MCL e total span of 8 cm,it is nontender firm in consistency ,regular margins, left lobe is not palpable.Spleen is enlarged 4cm below LCM towards Lt Iliac fossa,it is firm in consistency and splenic notch is palpable, and hand cannot be instituted beneath LCM, it is not balotable. Kidneys or no masses are palpable.BS are audible and are of normal intensity.
hernial orifices are intact , genitalia exam and examination of back is normal,testes are palpable in scrotum,
There is pallor but no jaundice , petechiae, bruises , lymphadenopathy, cataract, clubbing , palmer erythema, or edema.Examiantion of joints is normal.

I would like to do fundoscopy of the infant and do formal developmental assessment.

Biliary Atresia Short Case

COMMAND: Do general physical and relevant examination of 4 month infant with jaundice since birth.

D/D :

Neonatal hepatitis
Biliary Atresia
Galactosemia
Hypothyroidism
PFIC



I have examined 4 month old Ahsan who is a well looking, active and co-operative infant with obvious scleral icterus , having normal facies, pink in room air with no respiratory distress.

His Right radial pulse rate is 110/min which is regular , good in volume , RR is 29/min and he is afebrile with temperature of 99 degF.

His OFC is 44cm , length is 67 cm and weight is 5.8Kg ,i would like to plot on percentile charts,

He has jaundice with no evidence of pallor,  petechiae or bruises, cataract, edema, coarse dry skin, hypothermia, protruding tongue or hypotonia. BCG scar is present, oral cavity examination is normal, his cornea are are healthy looking.

Abdomen is distended with a central , everted umbilicus with a horizontal slit , there are prominent veins with that fill away from umbilicus., there are no scar marks, abdomen is nontender, liver is palpable 4cm below RCM  e upper border in 4th ics in MCL e total span of 8 cm,it is nontender firm in consistency ,regular margins, left lobe is not palpable.Spleen is enlarged 4cm below LCM towards Lt Iliac fossa,it is firm in consistency and splenic notch is palpable, and hand cannot be instituted beneath LCM, it is not balotable. There is no other visceromegaly and no masses are palpable, there is evidence of free fluid in the abdominal cavity in the form of shifting dullness.BS are audible and of normal intensity.
hernial orifices are intact , genitalia exam and examination of back is normal,testes are palpable in scrotum,I could not see stools in diapers i would like to see the diapers with stools if possible.
Examination of CVS , CNS , Resp system is unremarkable.
I would like to do fundoscopy of the infant and do formal developmental assessment.