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
No comments:
Post a Comment