paraparesis: case study

I've been given 3 cases to solve in an attempt to understand the topic of "paraparesis" to develop my competency in reading and comprehending clinical data including history, clinical findings, investigations and come up with a diagnosis and treatment plan.

The 3 cases can be found in the given links:
case 1: https://vaish7.blogspot.com/2020/05/medicine.html?m=1
case 2: https://hitesh116.blogspot.com/2020/05/elog-13th-may-2020.html?m=1
case 3: https://hitesh116.blogspot.com/2020/05/12may-2020-elog-medicine-intern.html?m=1

to begin with- what is paraparesis:

Paraparesis is the partial paralysis of both legs. It is characterized by progressive weakness and spasms in the legs.

 Symptoms can start anytime in life. Most people diagnosed with paraparesis will eventually have difficulty walking and will also see changes in their gait (the way that they walk).

Reference: https://www.medicalnewstoday.com/articles/318751#what-is-paraparesis

causes of paraparesis:

genetic disorders[ Hereditary spastic paraparesis (HSP)/ Strumpell-Lorrain syndrome ]

a viral infection [Tropical spastic paraparesis (TSP)]

vitamin B-12 deficiency.

Traumatic

 Spinal TB

Spinal tumor

Cauda eqina syndrome

arthritis of spine

herniated disc

spinal degeneration

gullian barre syndrome

multiple sclerosis

muscular dystrophy

myasthenia gravis

polymyositis

cerebral palsy

transient ischaemic attack

OP poisoning

Others:

Thickened ligamentum flava

Infected dermoid cyst

Bilateral SOL in both motor area 

case 1:

A 23 yr old male patient presents with:

      1. Bilateral lower limb weakness associated with tingling and numbness since 5 days.
          Had a sudden fall when got up for urination.

      2. H/o 3-4 episodes of vomitings 5 days ago- non projectile, non bilious, food particles present.
   
      3.Sudden fall when he got up for urination.

Past History:
     Gluteal abscess since 5 months ( operated 5 months back)
     Scrotal abscess since 20 days ( incision and drainage 10 days back)
     NO Similar complaints in the past.
     NO other relevant past history.

ON EXAMINATION:

Vitals and General examination - normal

CNS examination:

conscious
speech - normal
cranial nerves- intact
Motor system: 
                            bulk- normal
                            tone- hypotonia in both lower limbs                                           
                            power- decreased power in both lower limbs
                            Reflexes - present
                            plantar reflex- extensor in both right and left
                            Ankle clonus- present in rt, absent in left
Involuntary movements- absent
Sensory system- normal
Cerebellar signs- absent
Meningeal signs- absent

AT this point we can rule out:
                                               LMN lesions- due to presence of reflexes and extensor plantar reflex
                                               Meningitis- due absence of meningeal signs

ON FURTHER INVESTIGATION:


  • As the patient shows high risk behaviour[ multiple sex partners] it is important to test for viral serology, mainly HIV. However on investigation viral serology was negative.
  • x-ray chest showed multiple nodules in pulmonary apices suggestive of Pulmonary Tuberculosis and a possible Miliary tuberculosis ( disseminated TB)
  • On x-ray of abdomen-L4 L5 spondylodiscitis with left psoas abscess ( which are seen in pott’s disease) which might have been a reason for cord compression and paraparesis but Is ruled out as clinical examination is not consistent with a LMN lesion
  • MRI brain showed diffuse enhancement in right and left cerebral hemispheres-diffuse enhancement rules out the possibility of a Tumor such as a Tuberculoma in the cortex.


Diffuse enhancement in the parasaggital cortex of the frontal cortex (motor cortex)  is suggestive of a Vasculitis in the ACA territory of the cortex causing brain infraction which is causing lower limb weakness.
This is due to blood borne spread of TB.[ extrapulmonary TB]

spinal TB:

Extrapulmonary TB presents at a range of sites in the body. In most series, the order of occurrence is lymph nodes, pleural, genitourinary, bones and joints, meninges, bowel and peritoneum, pericardium and the skin.

Pathogenesis of skeletal TB is related to reactivation of haematogenous foci or spread from adjacent paravertebral lymph nodes.  Weight bearing joints (spine 40%, hips 13%, and knee 10%) are most commonly affected.

This often involves two or more adjacent vertebral bodies and destruction of these causes spinal deformities and neurological complications.

Lumber area is the mostly (38.38%) affected of paraparesis followed by Dorso-lumber (35.35%) and Dorsal area (21.21%). Only 05% of the cases are due to affect at the Lumbo-sacral region.

Reference: https://www.researchgate.net/publication/301777310_An_overview_of_cases_of_paresis_causes_management_and_outcome.

TREATMENT :
T.ATT 3 tabs/day fdc
T.Benadon 40mg/od
T.pregabalin 75mg/po/h/s
OINT.MEGAHEAL FOR LOCAL APPLICATION
SITZ BATH WITH BETADINE TID
FREQUENT CHANGE OF POSITION

case 2:

An 18 yr old male presented with complaints of
                      Difficulty in walking since 1 month
                      Bilateral lower limb weakness since 1 month
                      Pain in the lower limb calf muscles since 1 month.
h/o difficulty in standing from sitting position.
h/o difficulty in climbing stairs
h/o difficulty in holding footwear
h/o slipping of footwear without knowledge
h/o muscle wasting (LL>UL)

Patient is a known alcoholic

GENERAL EXAMINATION:

pallor present. patient is conscious and coherent.

CNS EXAMINATION:

Pt is conscious and cranial nerves intact
Sensory system - normal
Cerebellar and meningeal signs - absent
Motor system:
              bulk- decreased in UL and LL
              Tone: normal in UL. Hypotonia in lower limbs
              Plantar reflex- absent
              Deep tendon reflexes- Absent

This patient has a LMN lesion causing flaccid papaperesis. as evidenced by:

 Reduced tone bilaterally

Wasting and weakness bilaterally

Reduced/absent reflexes

Mute/downgoing plantars 

upper motor neuron v/s lower motor neuron:

taken from:

https://www.researchgate.net/profile/Mohammed_Jan/publication/258253205/figure/download/tbl3/AS:601765061873664@1520483379062/Differentiating-features-of-upper-and-lower-motor-neuron-lesions.png

ON INVESTIGATION: 

Hb- 10.4 gm/dl

Creatine kinase level was normal - rules out any neuromuscular cause of paraparesis ( CK is normally raised in neuromuscular disorders)

Causes of Flaccid Paraparesis:

 

*Think anterior horn cell—nerve root—plexus—peripheral nerve—NMJ—muscle*

  1. Anterior horn cell disease e.g. motor neuron disease (NB: mixed upper and lower motor neuron signs), poliomyelitis
  2. Cauda Equina Syndrome secondary to disc herniation/epidural abscess/mets/haematoma etc.
  3. Lumbosacral plexopathy secondary to trauma/tumour/abscess (usually unilateral)
  4. Motor neuropathies:
    1. Inflammatory: guillain-barre syndrome (GBS), chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), multifocal motor neuropathy, sarcoid, vasculitis, paraprotein, amyloidosis
    2. Infectious: HIV, diphtheria, lyme disease, HTLV-1, west nile virus, rabies, enteroviruses
    3. Toxins: lead, arsenic, thallium, mercury, shellfish, pufferfish poisoning
    4. Metabolic: diabetic amyotrophy, porphyria
    5. Drugs: ciclosporin, gold, penicillamine
    6. Congenital: charcot marie tooth disease (HSMN)
  5. Neuromuscular junction disorders:
    1. Myaesthenia gravis
    2. Lambert-Eaton myaesthenic syndrome
    3. Botulism
    4. Organophosphate poisoning
    5. Tick paralysis
    6. Snake venom
  6. Myopathies:
    1. Inflammatory: polymyositis/dermatomyositis. NB: can overlap with other connective tissue disease eg mixed connective tissue disease
    2. Other connective tissue disease eg. SLE, vasculitis, RA, systemic sclerosis.
    3. Cancer (paraneoplastic: carcinomatous neuromyopathy)
    4. Drugs (statins, steroids)
    5. Infections (bacterial infections, HIV, CMV, EBV, Hepatitis)
    6. Endocrine (thyroid, addisons, osteomalacia, cushings, acromegaly, diabetic amyotrophy)
    7. Toxins (alcohol)
    8. Metabolic (renal/liver failure, electrolyte disturbance e.g. periodic paralysis)
    9. Miscellaneous (inclusion body myositis, rhabdomyolysis, sarcoidosis, mitochondrial myopathy, muscular dystrophy)
  7. Miscellaneous:
    1. Spina Bifida (lumbosacral lesion)

 

 Investigations according to most likely cause:

 

BP, L+S BP, ECG

Spirometry (FVC), ABG, CXR

EMG and Nerve conduction studies looking at velocity and amplitude

Bloods: peripheral neuropathy screen (see “Station 3 Peripheral Neuropathy”), CK, anti-AChR, anti-ganglioside antibodies

Neuro imaging (exclude cauda equine syndrome)

Lumbar puncture to examine CSF (raised protein in guillain-barre for example)

Genetic testing

Nerve biopsy

Muscle biopsy

reference:https://www.medicaleducationleeds.com/paces/flaccid-paraparesis/

ON FURTHER INVESTIGATION:

Nerve conduction study- was suggestive of bilateral common peroneal and sural nerve involvement

DIAGNOSIS: Flaccid paraparesis secondary to PERIPHERAL NEUROPATHY ( bilateral common peroneal and rural nerve involvement )

Symmetric Peripheral Neuropathy:

Causes: Proximal or distal sensorimotor Neuropathy (Type 1)

  1. Acute Inflammatory Demyelinating Polyneuropathy
    1. Guillain-Barre Syndrome
  2. Chronic Inflammatory Demyelinating Polyneuropathy
  3. Primary Myelinopathy
  4. Malignancy
  5. HIV or AIDS
  6. Hepatitis B
  7. Buckthorn
  8. Diphtheria

 Causes: Distal sensorimotor Polyneuropathy or DSPN (Type 2)

  1. Diabetic Neuropathy (Diabetic DSPN)
  2. Alcoholism induced Neuropathy (Alcoholic DSPN)
  3. HIV or AIDS
  4. Malignancy (paraneoplastic syndrome)
  5. Charcot-Marie-Tooth
  6. Toxins
    1. Acrylamide
    2. Allyl chloride
    3. Carbon disulfide
    4. Ethylene oxide
    5. Hexacarbons
    6. Trichloroethylene
    7. OPIDP, PCBs, PNU
    8. Organophosphates
    9. Nitrous Oxide Abuse (due to secondary Vitamin B12 Deficiency)
  7. Metals
    1. Arsenic
    2. Lead Poisoning
    3. Gold
    4. Mercury
    5. Thallium
  8. Medications
    1. See Drug-Induced Polyneuropathy
  9. Vitamin Deficiency
    1. Thiamine deficiency (Beriberi)
    2. Niacin Deficiency (Pellagra)
    3. Vitamin B12 Deficiency (Pernicious Anemia)
    4. Nitrous Induced Subacute Combined Degeneration of the Spinal Cord
    5. Vitamin B6 deficiency
  10. Paraproteinemia
    1. Amyloidosis
    2. Multiple Myeloma
    3. Waldenstrom's Macroglobulinemia
  11. Miscellaneous causes
    1. Acromegaly
    2. Chronic lung disease
    3. Hypothyroidism
    4. Renal Failure
    5. Porphyria
    6. Chronic Liver Disease
    7. Tic Paralysis

reference:https://fpnotebook.com/Neuro/Sx/SymtrcPrphrlNrpthy.htm

SURAL NERVE BIOPSY was ordered to know the further pathology  :

 Usual causes of sural nerve neuropathy include : compression by a mass lesion such a ganglion, trauma, inflammatory and vasculitic diseases
Peroneal neuropathy is commonly caused due to external compression at the level fibular head
The patient is a known to take alcohol, it might lead to vit B12 ,B6, thiamin, niacin and folate deficiency which cause peripheral neuropathy.



case 3:

An 18 yr old male patient came to the OPD with chief complaints of

Bilateral lower limb weakness since 20 days 

HOPI: Weakness in bilateral lower limbs started 2 yrs ago. It started as a proximal muscle weakness and over the years has now progressed to a distal weakness.

H/O bilateral lower limb edema- non pitting type.
H/O difficulty in squatting position and diificulty in getting up from squatting position.
H/O difficulty in wearing and holding footwear

ON EXAMINATION

GENERAL EXAMINATION- NORMAL 

CNS EXAMINATION

Pt is conscious, coherent, co-operative 
Higher mental functions- normal
cranial nerves- intact
sensory system- normal
No cerebellar and meningeal signs
Motor system: 
       Tone- normal 
   Power- LL- 4/5 in both lower limbs
 reflexes absent in both lower limbs

Differential diagnosis
  • Polymyositis
  • muscular dystrophies
Investigations that are done are:
muscle biopsy- Muscle biopsy rules out polymyopathy.
probable diagnosis: muscular dystrophy.

MUSCULAR DYSTROPHY

Muscular distrophy refers to a group of disorders that cause progressive loss of muscle mass and loss of muscle strength.
They occur due to genetic mutations in muscle proteins ( majorly Distrophin) which are needed for building up and normal functioning of the muscles.

DIFFERENT TYPES OF MUSCULAR DYSTROPHIES:
  • Duchenne muscular dystrophy 
  • Becker muscular dystrophy
  • Myotonic (Steinert’s disease)
  • Congenital
  • Facioscapulohumeral (FSHD)
  • Limb-girdle
  • Oculopharyngeal muscular dystrophy
FURTHER INVESTIGATIONS REQUIRED:
  1. Electromyography
  2. Genetic testing
             
TREATMENT: Presently there is no cure for muscular dystrophy.

  • corticosteroids- increase muscle strength and slow progression
  • Heart medications if associated with any heart conditions
  • Physiotherapy.


Muscular dystrophy: Symptoms, treatment, types, and causeswww.medicalnewstoday.com › 
articles

DUCHENNE MUSCULAR DYSTROPHY

"Duchenne muscular dystrophy (DMD) is a genetic condition that affects the muscles, leading to muscle wasting that gets worse over time. DMD occurs primarily in males, though in rare cases may affect females. The symptoms of DMD include progressive weakness and loss (atrophy) of skeletal and heart muscles. Early signs of DMD may include delayed ability to sit, stand, or walk and difficulties learning to speak. Muscle weakness is usually noticeable in early childhood. Most children with DMD use a wheelchair by their early teens. Heart and breathing problems also begin in the teen years and lead to serious, life threatening complications. DMD is caused by genetic changes in the DMDgene. DMD is inherited in an X-linked recessive pattern and may occur in people who do not have a family history of DMD. While there is no known cure for DMD, there are treatments that can help control symptoms. Becker muscular dystrophy (BMD), a milder form of muscular dystrophy, is also caused by DNA variants in the DMD gene"

Duchenne muscular dystrophy | Genetic and Rare Diseases ...rarediseases.info.nih.gov › diseases › duchenne-muscul...

BECKER MUSCULAR DYSTROPHY

"Becker muscular dystrophy (BMD) is an inherited condition that causes progressive weakness and wasting of the skeletal and cardiac (heart) muscles. It primarily affects males.The age of onset and rate of progression can vary. Muscle weakness usually becomes apparent between the ages of 5 and 15. In some cases, heart involvement (cardiomyopathy) is the first sign.BMD is caused by a mutation in the DMD gene and is inherited in an X-linked recessive manner. BMD is very similar to DMD , except that in BMD, symptoms begin later and progress at a slower rate.There is no cure for this condition"

Becker muscular dystrophy - Genetic and Rare Diseases - NIHrarediseases.info.nih.gov › diseases › becker-muscular-...


Comments

Post a Comment