A case of 18 yr old patient with bilateral limb weakness with edema

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, inveatigations  and come up with diagnosis, treatment plan

.
 Entire real patient  clinical problem in this link here: //srianugna.blogspot.com/2020/05/hello-everyone.html

A 18 years old male patient with bilateral lower limb weakness since 20 days   the weak ness was started 2 years  back in proximal region  and gradually progressive to distal region.  bilateral  non pitting type of edema in lower limbs. H/o difficulty of squatting position and getting from the position. On examination there is areflexia.

 Weakness cause may be neuro genic , myogenic, traumatic cause .

No h/o trauma so it is ruled out.
 Neurogenic may be UMN LESION, LMN LESION. But the features are some related to LMN.

LOWER MOTOR LESION:
Anterior horn cells
Nerve roots
Peripheral nerves
Neuromuscular junction
Muscle

Anterior horn cells: it includes spinal muscular atrophy( areflexia, weakness,muscle twitching respiratory muscle involvement should be seen .diagnosis by genetic testing,  CT , MRI .By features , investigations it is ruled out.Nerve root( radiculopathies): there should be pain, radiation of pain diagnosis by CT , MRI. By above things we can rule out .

 Peripheral nerve involvement ruled out by nerve conduction studies,.

 Neuromuscular junction  -by features and  electromyography it can be ruled out from other diseases.

 Muscle(myogenic causes):  It may  include
Inflammatory causes- muscle biopsy is done and impression given-no suggestive of polymyositis.

Metabolic causes -no features of glycogen storage disorders.

Drug induced-no history of drug intake.
Endocrine causes-thyroid profile is normal thyroid myopathy is ruled out.

Diagnosis may be muscular dystrophy  (muscle biopsy)
Muscular dystrophy:
-myotonic dystrophy
- duchene's muscular dystrophy
--Beckers muscular dystrophy

Myotonic dystrophy :it involves facial muscle by sparing proximal muscles so it is ruled out.

Duchenes muscular dystrophy, beckers muscular dystrophy are genetic disorders but  patient with DMD will occurs symptoms by 3 to 5 years of age and may die by 18 to 20 years  with lung infections joint contractures, but in beckers disease there weakness,  proximal muscles are involved but onset of symptoms take longer time, there will be hypertrophy of calf muscles.

Investigations:
 Genetic  testing - mutation of DMD gene
Electromyography- to differentiate between muscle or nerve causes.

 Renal function tests-creatinine , urea levels are more, levels of phosphorous , calcium, potassium levels are taken to rule out rhabdomyolysis.

Complete urine examination is done

ECG -ventricular hypertrophy (cardiomyopathy)
 The diagnosis may be BECKER'S MUSCULAR build DYSTROPHY.

ANATOMICAL SITE-MUSCLE

 PHYSIOLOGICAL DISABILITY-difficult to squat and change the position from squatting to standing, to climb upstairs, wearing of slippers.

TREATMENT: no cure for this beckers disease yet. Symptomatic treatment,  steroids are given to slow down the progression,  prednisone may helpful in production of utrophin which closely ressembles dystrophin. Orthopaedic surgeons can treat  contractures,  associated with cardiomyopathy can be treated by ACE inhibitors, ARBS,beta blockers.

 Non pharmacologically  -physiotherapy, rehabilitation

A case of 18 yr old male patient with bilateral lower limb weakness since one month

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..

https://hitesh116.blogspot.com/2020/05/elog-13th-may-2020.html?m=1

Following is my analysis of this patient's problem:

Current issues or chief complaints of the patient.

The problems in order of priority I found are 

1) difficulty in walking since 1 month

2) bilateral lower limb weakness since 1month

3)pain in lower limb calf muscles since 1 month

4)fever since 1 week

NOTE: As the patient presented with acute onset paraparesis  we need to rule out all of the causes. 

So the differential diagnosis  for acute onset paraparesis :

1. Extramedullary lesions :- 

     a) spinal trauma

     b) pathological fractures

     c) epidural abscess

     d) Dural AVM 

     

2. Intramedullary lesions:- 

     a)demylinating :-  multiple sclerosis,

                                    acute disemminated encephalomyelitis

     b) ischemia:- infarction - trauma , thromboembolism

                             Haemorrhage- vasculitis 

    c) myelitis :- viral, bacterial , parasitic(schistosomiasis).

Reference: www.kznhealth.gov.za/medicine/presentation 48.pdf

Investigations to be done: blood investigations , structural investigation, csf examination

1-ANATOMICAL LOCATION OF THE PROBLEM:!

We observed that there is hypotonia,hyporeflexia,flaccid paralysis are seen a characteristic of LMN LESION(LOWER MOTOR NEURON)

Deep tendon reflexes 

                     Right.             Left

Biceps.          P.                     ---

Triceps.         ---.                   ---

Supinator.     ---                    ---

Knee              ---                    ---

Ankle.            ---                    ---

 Tone:               ul.            normal.         Normal

                         LL.         hypotonia.      hypotonia

Power :almost all the muscles in the leg are showing 3/5 power indicating flaccid paralysis.

SPECIFIC ANATOMIC LOCATION:

Specific anatomical location should be studied to know whether the disease is from either 1)neurogenic 2)myogenic or 3) neuromuscular junction

1)if suspecting myogenic cause then creatine kinase and muscle biopsy should be done.

CREATININE KINASE- 92 IU/L     which is normal so muscle related cause is ruled out.

2)If suspecting Neuromuscular junction cause then electromyography should be done which is also normal in this case so it is ruled out.

3)if suspecting neurogenic cause then..

Nerve conduction studies should be done.

The study shows 

Bilateral common peroneal and sural nerve axonal neuropathy(peripheral neuropathy)Investigations:

NERVE CONDUCTION STUDIES:

2-PHYSIOLOGICAL FUNCTIONAL DISABILTY

     as there is axonal degeneration of neurons there will be functional disability of these nerves resulting in 

       -progressive weakness or clumsiness

       -difficulty in walking

        -absence of reflexes or diminished

3-ETIOPATHOLOGY

FROM the history of the patient he is  alcoholic and there is anaemia. Due to alcohol consumption there is deficiency of vitamins like b1,b3,b6 which is one of the cause of peripheral neuropathy.

Calf pain is most common in ALCOHOLIC NEUROPATHY. Due to this there will be metabolic disturbances where there is accumulation of fructose and sorbitol in Schwann cell causing axonal degradation.

https://www.slideshare.net/mobile/meducationdotnet/peripheral-neuropathy-57320857link

Other viral etiology are ruled out using investigation.

4-Other problems faced

Pain and fever 

       The cause of pain may be due to inflammation of these nerves and fever may be due to any infection which is not ruled out. Csf examination is necessary to rule out the causes of myelitis and other possible causes.

5.TREATMENT PLAN

a)pharmacological component

1-T pcm 650 mg thrice daily for fever

2-inj neomol 100ml IV infusion if fever greater than 101° f

3-T.bcomplex once daily for peripheral neuropathy

4-permethrin 5% lotion for scabies 

b) non pharmacological component

Physiotherapy and proper diet should be made..!!

References: Dr. Hiteesh s presentation  and blog .