Case of 18 year old with complaints of B/L weakness in lower limbs

 I have been given this case to solve in an attempt to understand the topic" PARAPARESIS" to develop my competency in reading and comprehending clinical data including history,clinical findings, investigations and come up with diagnosis and treatment plan.

You can find the entire real patient clinical problem in the link below 
https://hitesh116.blogspot.com/2020/05/12may-2020-elog-medicine-intern.html
https://srianugna.blogspot.com/2020/05/hello-everyone.html

Thus after going through the case the complaint presented by patient are

• Weakness of bilateral lower limbs since 20 days
• H/o bilateral edema non-pitting type
• H/o difficulty in squatting position and getting up from that position 
• H/o difficulty in wearing and holding chappals

 Weakness(detail history)
    Weakness bilaterally in lower limbs started in proximal region 2 years ago which was insidious in onset and gradually progressive later progressed to b/l distal regions ,former causing difficulty in squatting position and later leading difficulty in wearing and holding chappals.

According to the presenting symptoms the main focus should be on neuromuscular system(CNS, PNS,musculoskeletal).

 On examination :-

Vitals and General examination- Normal 
Local examination-Central nervous system
 Patient is conscious,coherent and cooperative, 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 meningial signs and no cerebellar signs
  
  Differential diagnosis:- 

• UMN and LMN lesions 
• Peripheral neuropathy 
• Neurological disorders 
• Myopathy(muscular dystrophy)

  ANATOMICAL LOCATION OF THE CAUSE

      UMN lesion (leads to weakness also includes spasticiy,clonus,hyperreflexia,hypertonicity. As these symptoms are absent we rule out UMNL

       LMN lesion (also leads to weakness also includes fasciculations,muscle atrophy,fibrillation,hypotonia,hyperreflexia

Lesion sites of LMN are-
                                       Anterior horn cell(motor neuron)

                                       Peripheral nerve 
                                       Neuromuscular junction

                                       Muscle

Radiculopathy- 

#One the causes of radiculopathy is intervertebral disc prolapse,( as the disc compresses the nerve root there will be pain which may be radiating and sensory loss (numbness)of the part where the nerve is distributed.

#Sensory,motor involvement and reflexia are seen and is usually asymmetrical.

Peripheral neuropathy-

#Peripheral neuropathy, a result of damage to the nerves outside of the brain and spinal cord (peripheral nerves), often causes weakness, numbness and pain, usually in your hands and feet. It can also affect other areas of your body. 
#Sensory and motor systems are involved .
Neuro muscular junction disorders
#These are either pre synaptic ( Lambert-Eaton syndrome, botulism) or post synaptic(MyastheniaGraves)
#Fatigued and fluctuations 
#Diagnosed by Electromyography
Myopathy

 Symmetric proximal muscle weakness,malaise,fatigue, absence of sensory complaints,atrophy and hyporeflexia are the signs and symptoms.
Histopathological study shows there is problem in the muscle in this patient. 
Myopathies are grouped as following:

• congenital myopathies: characterized by developmental delays in motor skills; skeletal and facial abnormalities are occasionally evident at birth
• muscular dystrophies: characterized by progressive weakness in voluntary muscles;sometimes evident at birth 
• mitochondrial myopathies: caused by genetic abnormalities in mitochondria, cellular structures that control energy; include Kearns-Sayre syndrome, MELAS and MERRF
• glycogen storage diseases of muscle: caused by mutations in genes controlling enzymes that metabolize glycogen and glucose (blood sugar); include Pompe's, Andersen's and Cori's diseases
• myoglobinurias: caused by disorders in the metabolism of a fuel (myoglobin) necessary for muscle work; include McArdle, Tarui, and DiMauro diseases
• dermatomyositis: an inflammatory myopathy of skin and muscle
• myositis ossificans: characterized by bone growing in muscle tissue
• familial periodic paralysis: characterized by episodes of weakness in the arms and legs
• polymyositis, inclusion body myositis, and related myopathies: inflammatory myopathies of skeletal muscle
• neuromyotonia: characterized by alternating episodes of twitching and stiffness; and
• stiff-man syndrome:  characterized by episodes of rigidity and reflex spasms
• common muscle cramps and stiffness, and
• tetany:  characterized by prolonged spasms of the arms and legs.

Muscular dystrophy:

The main sign of muscular dystrophy is progressive muscle weakness. Specific signs and symptoms begin at different ages and in different muscle groups, depending on the type of muscular dystrophy.

Duchenne type muscular dystrophy: This is the most common form. More common in boys.

Signs and symptoms, which typically appear in early childhood, might include:

• Frequent falls
• Difficulty rising from a lying or sitting position
• Trouble running and jumping
• Waddling gait
• Walking on the toes
• Large calf muscles
• Muscle pain and stiffness
• Learning disabilities
• Delayed growth

Becker muscular dystrophy

Signs and symptoms are similar to those of Duchenne muscular dystrophy, but tend to be milder
and progress more slowly. Symptoms generally begin in the teens but might not occur until the
mid-20s or later.
Becker MD is progressive, meaning problems get worse with age. Some of them begin using a wheelchair in their twenties but many overage 50 can walk without help or by using crane,crutches.they live long active lives when compared to Duchenne who are ambulated. 

Other types of muscular dystrophy -
Some types of muscular dystrophy are defined by a specific 
feature or by where in the body symptoms begin. Examples include:

• Myotonic. This is characterized by an inability to relax muscles following contractions. Facial and neck muscles are usually the first to be affected. People with this form typically have long, thin faces; drooping eyelids; and swanlike necks.
• Facioscapulohumeral (FSHD). Muscle weakness typically begins in the face, hip and shoulders. The shoulder blades might stick out like wings when arms are raised. Onset usually occurs in the teenage years but can begin in childhood or as late as age 50.
• Congenital. This type affects boys and girls and is apparent at birth or before age 2. Some forms progress slowly and cause only mild disability, while others progress rapidly and cause severe impairment
• Liimb-girdle. Hip and shoulder muscles are usually affected first. People with this type of muscular dystrophy might have difficulty lifting the front part of the foot and so might trip frequently. Onset usually begins in childhood or teenage years.

PROBABLE DIAGNOSIS: BECKERS MUSCULAR DYSTROPHY 

 Investigations to be done are:

        

• Enzyme tests. Damaged muscles release enzymes, such as creatine kinase (CK), into your blood. In a person who hasn't had a traumatic injury, high blood levels of CK suggest a muscle disease.
• Genetic testing. Blood samples can be examined for mutations in some of the genes that cause types of muscular dystrophy.
• Muscle biopsy. A small piece of muscle can be removed through an incision or with a hollow needle. Analysis of the tissue sample can distinguish muscular dystrophies from other muscle diseases.
• Heart-monitoring tests (electrocardiography and echocardiogram). These tests are used to check heart function, especially in people diagnosed with myotonic muscular dystrophy.
• Lung-monitoring tests. These tests are used to check lung function.
• Electromyography. An electrode needle is inserted into the muscle to be tested. Electrical activity is measured as you relax and as you gently tighten the muscle. Changes in the pattern of electrical activity can confirm a muscle disease.

  TREATMENT 

GIVEN:

•T Prednisolone 15mg po od

•T Pantop 40mg bbf 

•T Met xl 12.5mg of od

•Cap Becosules od 

•T Chymerol forte od

•T Taxim 200mg bd

•T Vit c od

•T Ultracet sos

SUGGESTED:

1)MEDICATIONS: 

           •Corticosteroids (prednisone and deflazacort) which helps in strengthening of the muscle and delay the process of certain types of muscular dystrophy 

          •Eteplirsen to treat Duchenne muscular dystrophy 

         •ACE inhibitors or beta blockers should be used if MD  damages the heart  

2)PHYSIOTHERAPY 

         As MUSCULAR DYSTROPHY can restrict the flexibility and movement of the joints 

Reference: 

https://www.mayoclinic.org/diseases-conditions/muscular-dystrophy/symptoms-causes/syc-20375388 

https://kidshealth.org/en/parents/becker-md.html

https://www.healthgrades.com/right-care/bones-joints-and-muscles/leg-weakness

https://ghr.nlm.nih.gov/condition/duchenne-and-becker-muscular-dystrophy

https://www.ninds.nih.gov/Disorders/All-Disorders/Myopathy-Information-Page

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

 

A case of 42yearold female with multiple health events since birth

By N.Vaishnavi Reddy 
I have 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 an find the entire real patient clinical problem in this link below..
https://classworkdecjan.blogspot.com/2019/05/42-f-with-severe-regular-edema-with_17.html?m=1



Following is my analysis of the patient's problem:

The problems in order of priority are:
1. Headache
2. Swelling
3. Left sided weakness
4. Sleep deprivation
5. Fatigue

1. Headache- migraine with aura
        Severe Headache started at the age of 2 yrs and became worse with menses at age 14 and while on birth control at age 32 caused migraine with aura .Migraine headache is episodic and 20% are classical(associated with aura). Possible reason hemiplegic migraine 
Criteria for migraine with aura:
 For migraine;
Repeated attaches of headache lasting for about 4-72hrs in patients with normal pe and no other reasonable cause for headache and causes are :
* unilateral headache *throbbing pain* aggravated by movement *moderate to severe intensity and *associated with nausea and vomiting *photophobia and phono phobia.
 For aura;
*gradual onset * lasting < 60 min* reversible.

Investigations:
Fundus examination
CSF examination ( any infections)
CT and MRI of brain
EEG for detecting seizures
X-ray of paranasal sinuses ( sinusitis and tumours)

 Treatment :
      Triptans , anti-epileptics( seizures), and avoid stress and staying In dark room.



2. Swelling
       It started at the age of 1 and she still swells up in conditions of emotional stress, smoking, exercise. Swelling is mainly on face, neck and abdomen.
The cause of it may be hemolytic crises on patient due to G6PD deficiency.
Which causes decrease in the levels of NADPH. This NADPH maintains the levels of reduced glutathione which inturn maintains the rbc integrity.
Thus in this deficiency rbc's become fragile and when subjected to oxidative stress undergoes hemolysis. Another cause being kidney failure. Excessive alcohol consumption.


Following are the  symptoms suggestive of  hemolysis

Coke colored urine , diarrhoea ,vomiting,swelling and acute kidney injury.

She also had infections:recurrent UTI and pneumonia;severe reactions to anti malaria drugs,sulfa drugs and flava beans.

Investigations done are:
Hemogram for anemia
CBP,CUE
Chest X Ray( pneumonia)
ECG- signs of right heat failure
Liver enzymes elevated

Treatment adviced:
Avoid stress
Do not consume fave beans,sulpha drugs,antimalarials



3. Left sided weakness
         Numbness in the left side of face, loss of function on the left side of the body. Left foot started giving out as well as hand.

 Investigations to be done:
CT and MRI brain and spinal cord
CSF findings for infections.



4. Sleep deprivation
         She was unable to sleep since 1 yr of age ( very less ; 2-4 hrs). With nearly no REM sleep.
But improved since taking L - serine 20 gm at night, ribose 2 fm every hour in water.
Cases may be due to low NADPH, low glycine, lactic acidosis, G6PD deficiency and AMPD1 deficiency.

Investigations to be done:
 poly somnography,CT and MRI brain

 Treatment:
L-serine


5. Fatigue
         Due to G6PD deficiency , there is hemolysisof RBC leading to oxidative stress which causes decreased alertness ans fatigue. Thus exercise intolerance is seen along with muscle pain and cramps.
( If there are any mutations in the G6PD gene, then it changes the structure of the enzyme or decreases its production, due to which this enzyme will not be able to play its protective role. This 
results in accumulation of reactive oxygen species and damage or destruction of the red blood cells. Certain factors, such as or ingesting fava beans, certain drugs and infections can also lead to increase
 in the levels of reactive oxygen species, which results in faster destruction of the red blood cells
before they can be replaced by the body. Decrease in the red blood cells leads to hemolytic anaemia)

Treatment:
Ribose 

Other clinical ailments are:

Multiple ankle joint and fractures which can be attributed to chronic ankle joint instability and osteoporosis.
Attention deficit hyperactivity disorder Sue to ANKK1 gene mutation. 
Shortness of breath which can be due to oxidative stress, left atrial enlargement.
Recurrent infections.due to oxidative stress
   

Reference:- 
-Wikipedia 
-https://classworkdecjan.blogspot.com/2019/05/42-f-with-severe-regular-edema-with_17.html?m=1