K.mounika
Roll no 86
I have been given this case to solve in an attempt to understand the topic of patient clinical data analysis and to develop competency in reading & comprehending clinical data including history,clinical findings,investigations & come up with a diagnosis & treatment plan
https://86kethavathmounika.blogspot.com/2020/05/case-of-18yr-old-male-patient-with.html?m=1
My analysis for this patient is as follows:-
CHIEF COMPLAINTS:-
1.WEAKNESS OF B/L LOWERLIMBS SINCE 20 DAYS & DIFFICULTY IN SQUATTING POSITION AND GETTING UP FROM SQUATTING POSITION & H/O DIFFICULTY IN WEARING AND HOLDING CHAPPALS
-THE WEAKNESS OF LOWER LIMBS STARTED IN PROXIMAL REGION 2 YEARS
-INSIDIOUS IN ONSET
-GRADUALLY PROGRESSIVE
-LATER PROGRESSED TO B/L DISTAL REGION
POSSIBLE CAUSES :- CAN BE NEUROGENIC,MYOGENIC & TRAUMATIC
*TRAUMA:-
- it is ruled out as there is no history of trauma
**DUCHENNE MUSCULAR DYSTROPHY
- proximal weakness followed by limb girdle- features like cardiomyopathy,respiratory failure....mostly favourable diagnosis to patients symptoms & examination...it might be the cause fr weakness of limbs
Pathophysiology:-
*MYOTONIC DYSTROPHY(DM1):-
- facial mucles affected later distal and then generalised later - features are myotonia,cognitive impairment,cardiac conduction abnormalities,lens opacities,frontal balding,hypogonadism
As there are no features of it ,it is ruled out
**BECKERS MUSCULAR DYTROPHY
- proximal & limb girdle - features cardiomyopathy....it might also be the favourable diagnosis for this patient
In all the above muscular,myotonic,beckers following investigations to be done
●molecular genetic testing
● EMG studies
●muscle biopsy
●ECG for cardiac abnormality
*CHRONIC INFLAMMATORY DEMYELINATING POLYNEUROPATHIES :-
- like DM,HIV,GBS,vasculitis,SLE,Cirrhosis,amyloid should be ruled out by.These can be ruled out by following investigations
- Glucose,ESR,CBP,LFT,HIV testing,se electrolytes,vit b12.chest x ray,ANA,ANCA ,se protien electrophoresis,se amyloid
* METABOLIC MYOPATHIES :-
- like mitochondrial disoders should be ruled out
Investigations done are.... diagnosis by muscle biopsy,detection of mutations by muscle testing
*ACQUIRED MYOPATHIES:-
- like inflammatory,endocrine,toxic,drugs,paraneoplastic may be some of the differentials for muscle weakness
*Anterior horn cell disordes,NMJ disorders,spinal cord compressions disorders should be ruled out as these cases presents with limb weakness.
Investigtions to be done are - MRI,plain x ray,chest x ray,csf analysis,se b12,nerve conduction studies.
2.H/O B/L EDEMA OF LL NON PITTING TYPE
Possible causes:-
1.Duchhene muscular dystrophy
-muscular enlargement may be attributed to edema due to inceased cytoplasmic Na+ concentration leading to sodium overload
2.Beckers muscular dystrophy
- cardiac involvement is rapid& fluid collection in lungs leading to pulmonary edema
3.Myxoedema
- it is ruled out as patient doesnt have hypothyroidism
PAST HISTORY:- not significant
GENERAL EXAMINATION-
-patient was conscious, coherent and coperative
-moderately built and nourished.
-no signs of pallor, icterus, clubbing, cyanosis, lymphadenopathy, edema
-VITALS
1.temperature-AFEBRILE
2.pulse rate-92bpm
3.respiratory rate-18 cycles/min
4.BP-130/90mmhg
5.SpO2-96%
6.GRBS-142mg/dl
SYSTEMIC EXAMINATION
I.CVS-
S1 S2 heard
no added murmurs
2.RESPIRATORY SYSTEM-
-normal vesicular breath sounds heard
-bilateral air entry present
3.PER ABDOMEN-
shape=scaphoid
umbilicus=central and normal in position
all quadrants moving equally on respiration
no tenderness
no organomegaly
bowel sounds-heard
no bruit heard
4.CNS-
patient is conscious, coherent, coperative
patient well oriented to time, place and person
higher mental functions= normal
Cranial nerves- intact
Motor system-
tone - normal
power - 4-/5 in both lower limbs
reflexes absent in both lower limbs
sensory system-normal
No meningeal signs
No cerebellar signs
Based on the above complaints patients blood samples were sent for
1.CBP
2.serology
3.RFT
4.ECG
5.CUE
6 MUSCLE BIOPSY & EMG
**Creatine kinase is markedly elevated in duchenne muscular dystrophy....this is to be ruled out.
TREATMENT
* T Prednisolone 15mg po od
* T Pantop 40mg bbf
* T Met xl 12.5mg od
* Cap Becosules od
* T Chymerol forte od
* T Taxim 200mg bd
* T Vit c od
*T Ultracet sos
●●● MY POSSIBLE DIFFERENTIAL DIAGNOSIS FOR THIS CASE IS:- MUSCULAR DYSTROPHY & BECKERS MUSCULAR DYSTROPHY
1.ANATOMICAL SITE-MUSCLE
2.PHYSIOLOGICAL DISABILITY-difficult to squat and change the position from squatting to standing, to climb upstaires, wearing of slippers.
3.TREATMENT: no cure for this beckers disease yet. Symptomatic treatment, steroids are given to slow down the progression, prednisone may helpful in prduction of utrophin which closely ressembles dystrophin. Orthopaedic surgeons can treat contractures, associated with cardiomyopathy can be treated by ACEinhibitors, ARBS,beta blockers.
4.BIOCHEMICAL ABNORMALITIES:- Creatine kinase levels,aldolase levels,muscle proteins.
5. Non pharmacologicaly -physiotherapy, rehabilitation
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