Find the cause. Save the lives.

This is online E log book to discuss our patient's de-identified health data shared after taking his/her/guardian's signed informed consent. Here we discuss our individual patient's problems through series of inputs from available global online community of experts with an aim to solve those patients clinical problems with collective current best evidence based inputsThis e-log book also reflects my patient centered online learning portfolio and your valuable inputs on comment box is welcome

G. Saahithya Reddy

141

The case of a 18 year old boy

Chief complaints : the patient complains of bilateral weakness in the lower limbs since 20 days. 

History of present illness :

The patient was apparently asymptomatic 2 years ago after which he had developed weakness of proximal limb which was insidious in onset and gradually progressive. It got descended to distal limbs bilaterally. 

H/o difficulty in sitting and standing from squat position. 

H/o difficulty wearing and holding slippers. 

H/o bilateral edema of lower limbs which is of non - pitting type. 

No h/o difficulty in combing hair, buttoning unbuttoning of shirts

Medical history:

Not a known case of hypertension, diabetes mellitus, epilepsy, thyroid. 

Family history : 

Not significant 

Personal history:

Diet  -mixed

Appetite - normal

Sleep- adequate 

Bowel and bladder movements - regular

Drug history :

The patient has no known drug allergies or use of any drugs. 

General examination : 

The patient is conscious, cooperative, coherent, comfortably sitting on the chair. 

He is moderately built and nourished but has bilateral calf muscle hypertrophy. 

There's no pallor ,icterus, clubbing, cyanosis, koilonychia, lymphadenopathy.
Vitals: appear to be normal
Gait: high stepping gait

Systemic examination :

CVS : 

On inspection -no significant findings. 

On palpation-1. apex heart beat felt downwards and outwards the 5th left intercostal space. (suggests dilated heart) 

2. Palpable lift felt 

3. Palpable thrill in the neck. ( suggestive of hyperdynamic circulation) 

On ascultation: 1.S1 , S2 heart sounds are heard

2.S3 heart sound is added 

3.Wide fixed split appears to be heard. 

Respiratory system:

Bilateral vehicular breath sounds heard

Abdomen examination :

No known significant findings in the abdomen.

CNS:

Patient is well oriented to time and place. 

Higher mental functions :normal

Cranial nerves: intact

Sensory system: normal

Motor system: 

Tone - normal

Power - 4/5 in both the limbs i.e movement against moderate resistance. 

Reflexes - absent in both the lower limbs. 

          Clinical data analysis, coming to a.              diagnosis

1. Weakness - it could be due to neurogenic or myogenic cause in a broader term 

Neurogenic cause :

It is either upper motor neuron or lower motor neuron.  Since the patient has absent of reflexes, absence of any fasiculations, twitches and he has intact sensations. Hence he can have a lower motor neuron lesion. 

Lower motor neuron lesion : 

• Anterior horn cell disease 
• Nerve root ( radiculopathy) 
• Plexus injury ( pain with sensory loss) 
• Peripheral nerve disease
• Neuromuscular junction

Myogenic cause:

It could be due to :

• Genetic
• Dystrophy
• Inflammatory 
• Metabolic
• Endocrine- Hypothyroidism + calf muscle hypertrophy ( Hoffman's disease) 

            Investigations:

• To differentiate if it is neurogenic or myogenic : NCV ( neuron conduction velocity studies )  is done -  NORMAL ,hence the disease is not neurogenic. It has to be myogenic. 
• To know the cause between neuromuscular junction and the muscle EMG (Electromyography ) is done which rules out NMJ diseases such as amyotrophic lateral sclerosis and Myasthenia gravis which ( repetitive nerve stimulation abnormalities)  
• To know the type of muscular disorder we must check for CPK ( creatine phosphokinase) -its increase indicates myopathy  or dystrophy. 
• To confirm the suspected  diagnosis -muscle biopsy is done. Examination of skeletal tissue fibre showed few inflammatory cells between the muscle fibre , evidence of atrophy and necrosis suggestive of polymyositis. 
• ECG - done to confirm the findings obtained in CVS examination. It showed biventricular hypertrophy which could again suggest of abnormality of cardiac muscle. 
• RFT (renal function tests)   - slight increase in phosphorous,  uric acid levels, creatine kinase but normal levels of  potassium and normal calcium levels rules out rhabdomyolysis.  
• CUE (complete urine examination)  : no casts, normal urine color, 
• Endocrine- normal thyroid profile, hence ruling out Hoffman's disease. 

Hence from the above data the  differential diagnosis can include :

• Muscular dystrophy
• Polymyositis

To differentiate between these two diseases 

Genetic testing ( western blot analysis of muscle biopsy)  must be done. 

Questions :

1. What is the anatomical location that is involved? 

   The involved location probably is muscle as per the given history and results of investigations done. 

2.physiological function disability?? 

The patient is unable to climb stairs, squat, run,  hypertrophy of calf muscles. 

3.Biochemical abnormality:

Increased serum creatine kinase levels 

4.Pathology at cellular level? 

Deletions or duplications of Dystrophin gene are common in both DMD and BMD. 
In 95 % cases the in frame mutations cause altered gene rather than complete absence of the gene.
   The diagnosis is " MUSCULAR DYSTROPHY "

Treatment plan:

• Non pharmacological - range of motion and stretching exercises.,  mobility aids, assisted breathing devices. 
• Pharmacological - steroids like prednisolone , deflazacort which enhances muscle strength,  short oligonucleotides. 
• Monitoring of cardiac enlargement. 

The above treatment cannot cure completely it just can reduce the intensity of the symptoms and aid in leading  a comparatively comfortable life.

Reference : Dr. Anugna mam  blog https://srianugna.blogspot.com/2020/05/hello-everyone.html
https://www.google.co.in/url?sa=t&source=web&rct=j&url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5083635/&ved=2ahUKEwil1sj0-8TpAhXEbn0KHTVqARcQFjAAegQIAhAC&usg=AOvVaw0gA4zR7_0sUU0MA_CRyJhW
Harrison text book.