Case of 18 yr old male patient with B/l lower limbs weakness and edema

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 and comprehending clinical data including history, clinical findings,inv investigation s& come up with diagnosis and treatment plan

My analysis for this patient is as follows :

 Chef complaints : -

1. Weakness of bilateral lowerlimb-poliomyelitis since 20 days& difficulty in squatting posstion and getting up from squatting position and history of difficulty in wearing & holding chappals

- The weakness of lower limbs started in proximal region 2 years

. Incisions in onset

. Gradually progressive

. Later progressed to B/L distal region

Possible causes.. :- 

Can be neurogenic, myogenic & traumatic

 May be UMN/LMN lesions so it should be ruled out

TRAUMA - is ruled out ,as there is no history of trauma

 MUSCULAR Dystrophy :

 Proximal weakness followed by limb girdle features like

Cardiomyopathy,rrespiratory failure mostly favourable diagnosis to patient s symptoms & examination ..it might be the cause for weakness of limbs

MYOTONIC DYSTROPHY

- facial muscles affected later distal and then generalized later features are myotonia, cognitive impairment, cardiac conduction abnormalities,lens opacities, hypogonadism ...these features are not there so it is ruled out

BECKERS MUSCULAR Dystrophy :

Proximal limb girdle. . features cardiomyopathy it might be the favouable diagnosis for this patient

PROXIMAL MYOTONIC MYOPATHY :

 Proximal especially thigh some times muscle hypertrophy, muscle pain &other features similar to DM1

Following investigation to be done  for above conditions :

.. molecular genetic testing,

.. EMG studies

.. muscle biopsy

.. EACH for cardiac ab normality

CHRONIC inflamatory Demylenating Polyneuropathies :. Like _DM,HIV,GBS,vvasculitis,SALE, amyloid should be ruled out by following 

investigation s

 -glucose,ESR,CBP,LFT,HIV testing,electrolytes,vit b12,chest X ray

METABOLIC Polyneuropathies :

Mitochondrial disease should be ruled out

Investigation s:  diagnosis by muscle biopsy, detection of mutation s by muscle testing

ACQUIRED MYOPATHIES

. Inflamatory, endocrine,toxic,drugs,paraneoplastic  these are some differentials for muscle weakness

ANTERIOR HORN CELl disorders, spinal cord cord compression disorders should be ruled out as these cases present with limb weakness

Investigation s :

MARI,plain chest x-ray,CSF analysis,b12, nerve conduction studies

2. History of bilateral edema of LL ,non pitting type

Possible causes :

. Duchhene muscular dystrophy

. BECKERS muscuMUS Dystrophy

. Myxoedema

PAST History not: significant

.GENERAl  EXAMINATION

 - patient was conscious,coherent and consistent operative

Moderately built and nourished

No signs of pallor,iicterus, clubbing,ccyanosis, lymphadenopathy,edema

VITALS

1. Temp- afebrile

2. Pulse rate- 92 BPM

3. RR-18cy/min

4. BP-130/90 mmHg

5. Spo2-96%

6. GRBS-142 mg/DL

Systemic examination

1. CVS _ S1&S2 heared,no added murmurs

2. Respiratory system: normal VBS heared

- bilateral air entry present

3. PER ABDOMEN

 .shape - scaphoid

. Umblicus - central& normal in position

All quadrant s moving equally on respiration

 No tenderness

 No organomegally

Bowel sounds heared,no bruit heard

4. CNS

 Patient is conscious,cohe cohe, cooperative ,pt well oriented to place,time,person

 Higher mental functions- normal

Cranial nerve s- intact

 Motor system

 Tone- normal

Power- 4/5 in both LL

 Sensory system normal

 No meningeal signs

No cerebellar signs

Based on above complaints, blood sample sent for

.CBP, serology, RFT ,ECG ,CUE, Muscle biopsy &EMG

• CREATINE kinase is markedly elevated inDMD  this is to be ruled out

Treatment

• T prenisolone 15 mg po of

• T pantop 40 mg bbf

• T Met XL 12.5 mg of

• cap Becosules of

• T chymerol forte of

• T taxim 200 mg bid

• T vit  c of

MY POSSIBLE DIFFERENTIAl DIAGNOSIS :

. Muscular dystrophy

. BECKERS MUSCULAR Dystrophy

 ANATOMICAL Site _ MUSCLE

Physiological disability - difficult to squat& change the position from squatting to standing,to climb up stairs,wearing of chappals

 TREATMENT..

 No cure for Becker's disease yet

Symptomatic treatment- steroid s given to slow down the progression

 Orthopedic surgeon can treat contractures, associated with cardiomyopathy it be treated by ACE inhibitors,ARABS,beta blockers

Non pharmacological therapy:

Physiotherapy, rehabilitation