general medicine case 4

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Case: 18 year old with chief complaints of bilateral weakness and edema of lower limbs

• I've been given this case to solve in an attempt to understand the topic of "patient clinical data analysis" to develop my competency in reading and comprehending clinical data including history, clinical findings, investigations and come up with a diagnosis and treatment plan. 

You can find the entire real patient clinical problem in this link here made by our interns

https://hitesh116.blogspot.com/2020/05/12may-2020-elog-medicine-intern.html?m=1

https://srianugna.blogspot.com/2020/05/hello-everyone.html

Following is my analysis of this patient's problem:

Chief complaints:

The problems in order of priority I found are 

1. Weakness of both lower limbs since 20 days

2. Bilateral edema in lower limbs.

History of presenting illness in the order of priority

1-B/L weakness in lower limbs

Weakness initially started in the proximal region  2 years back .

Onset: insidious in onset , 

Progression:progressed gradually to distal region 

 Associated features

 -difficulty in wearing and holding chappals

 -difficulty in combing hair , buttoning and unbuttoning shirt.

---B/L calf hypertrophy present

Possible diagnosis:

From above chief complaints we can rule out certain factors and come into final conclusion.

Weakness may be caused by any one of the following related to  blood vessels,muscle or nervous system.

If Artery related

As in case of peripheral artery disease and varicose veins there will be pain,leg skin atrophy,and claudication,telengectasia. As there are no signs of this artery are ruled out.

If suspecting  nerves related?

May be it is related to nerves because from the history there is history of difficulty in holding chappals and difficulty in buttoning and unbuttoning shirt.

To understand the nerve related issue A thorough CNS EXamination is done and following are results.

CNS-EXAMINATION

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

1- ANATOMICAL LOCATION OF THE PROBLEM

From the above CNS examination it is observed that there might be lesion in LMN pathway. 

LMN LESION can be particularly divided into 

1)neurogenic(anterior horn cell and peripheral nerves)

2) neuromuscular junction 

3) muscle

If suspecting neurogenic cause:

Here nerve conduction test is done which is normal so we can rule out neurogenic cause

If suspecting Neuromuscular junction cause

Electromyography is done which is normal and thus neuromuscular junction disorders like myesthenia gravis and lamborten Eaton syndrome are ruled out .

Finally we left with muscular cause.

Muscle biopsy should be done and examination of creatine kinase levels must be done.

Creatine levels -increased

Muscle biopsy report(quadriceps femoris)- suggesting no evidence of POLYMYOSIS and may be suggestive of dystrophy.

Other investigations

1.CBP -normocytic normochromic with leucocytosis

2.serology

3.RFT-creatinine and uric acid levels are slightly elevated

4.ECG- normal

5.CUE- pus cells seen

are done and these reports are within normal range.

2-ETIOPATHOGENESIS OF ABNORMALITY PRESENT IN MUSCLE (MYOPATHIES)

We have to rule out each and every myopathies now as follows

1)INFLAMMATORY MYOPATHIES

2} METABOLIC MYOPATHIES

3)DRUG INDUCED MYOPATHIES 

4)ENDOCRINE MYOPATHIES

5)MUSCULAR DYSTROPHY

1)INFLAMMATORY myopathies can be ruled out as there are no antibodies produced and no signs of inflammation are seen

2) Metabolic myopathies can also be ruled out as we can see there are no signs of glycogen storage disordersetc

3)Drug induced myopathies can also be ruled out

as there is no relavent history of drug intake from patient.

4)endocrine myopathies can also be ruled out as there are no thyroid Abnormalities and thyroid function is normal

5) It is most likely the muscular dystrophy cause 

Because proximal muscle weakness of lower extremities occur first and muscle biopsy report shows fat cells and necrotising and regenerative muscle fibres are seen suggesting dystrophy.

NOW WE HAVE TO DIAGNOSE WHICH TYPE OF MUSCULAR DYSTROPHY??

There are 3 most common types of dystrophies seen

1)myotonic dystrophy

2)Duchene's muscular dystrophy

3)Becker's muscular dystrophy

and the other one which is unlikely limb girdle muscular dystrophy

We have to rule out one by one and come to final diagnosis

1) myotonic dystrophy

This  can be ruled out easily as it starts with facial muscle Weakness and sparing proximal muscles mostly.

2)Duchene's muscular dystrophy

It can also be ruled out easily as it presents early in 3 to 5 years of age and patients shows Gower's manuever while standing up.

They usually die within 16-18 yes with severe pulmonary infections

Joint contractures and scoliosis are other features seen.

3)Becker's muscular dystrophy

Here Muscle wasting resembles Duchene's

Here proximal muscle weakness of lower extremities occur first

Onset 5-15 years of age

Dystrophin muscle protein is absent 

Calf muscles shows hypertrophy due to accumulation of fat cells and necrotic tissue.

Therapeutic options

There is not a cure for Becker muscular dystrophy at present. A doctor may prescribe steroid medications to help individuals remain able to walk for as long as possible.

The clinical course of Becker muscular dystrophy is variable. Some people may require a wheelchair by the time they reach their 30s; others may be able to continue walking with or without a cane for many years.

A multidisciplinary team of specialists with experience in treating Becker muscular dystrophy can help address symptoms:

• Physical and occupational rehabilitation professionals can design exercise programs and teach stretching activities to minimize contractures, which are hardened or deformed joints caused by contracting muscles and tendons.

• Orthopaedic surgeons with expertise in muscular dystrophy can treat contractures and scoliosis.

• Cardiologists track the patient’s heart function with EKGs and echocardiograms.

Reference 

https://www.google.com/amp/s/www.hopkinsmedicine.org/health/conditions-and-diseases/becker-muscular-dystrophy%3famp=true

    

                           Thank you