23 YEARS OLD FEMALE PRESENTED WITH C/O INVOLUNTARY MOVEMENTS

  MEDICAL CASE 

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

December 14 2021

YOGITA AILANI

Roll no:149

CASE DISCUSSION

23 YEARS OLD PATIENT PRESENTED WITH INVOLUNTARY MOVEMENTS OF BOTH UPPER LIMBS AND LOWER LIMBS

HISTORY OF PRESENTING ILLNESS

Sequence of events in patient’s life that might have led to the present condition:-

AT BIRTH:

She was born in the month of September 1998 

Non Consanguineous marriage  

First born child, full term baby 

Normal Vaginal delivery 

Cried immediately at birth 

Weight of the baby at birth 2.5kg 

Was admitted to the hospital for 3 Days as she engulfed amniotic fluid (3ltrs of fluid aspirated from the mouth)

Prelactal  feeds were given for 3 days

Baby was given to mother on the 3rd day and she started breastfeeding

Child was breastfed (along with supplemental feeds) for 6 months of life and then stopped.

AT 1 YEAR OF AGE:

Abnormal movements were observed of both UL & LL which were rapid and jerky lasted for 1 min 

Episodes were observed in both day and night time 

Mostly after getting up from bed

No H/o vomitings, loss of consciousness 

H/o frequent fever, throat pain, cough, cold present

H/o delayed milestones

H/o behavioural changes - anger, anxiety, crying spells

AT 3 YEARS OF AGE: (2001)

Started on Valproate and regular follow up monthly 

In the month of April

C/o Inability to walk since 15 to 20 days

Associated with Fever

O/E:

Deep Tendon Reflexes- Absent

Plantar_ B/L Flexors??

Rx- Syp. Potklor

In the month of May

CT - Normal

EEG - Abnormal Stage II sleep recorded and Interictal discharges bihemispherically.

AT 7 YEARS OF AGE: (2005)

Stopped AED??

Patient continued to have these episodes during sleep, more during early mornings, preceeded by brief arousal from sleep.

H/o Episodes + while getting up from sleep, standing after prolonged sitting, stress, during erection 

(Few times during cycling)

Patient was aware of this episodes, followed by her leg pains used to stop activity before it starts.

AT 13 YEARS OF AGE:(2011)

EEG- Normal

Rx- 

TAB. Tetrabenazine 25mg 1/2 Tab at Night.

TAB. Valproate 300mg BD

TAB. Clonazepam 0.5mg OD

AT 16 YEARS OF AGE: (2014)

Vitamin D- 4.21 (< 10 deficient)

Started on Vit. D capsule 

( 1 TAB a week for 6 months)

- MRI (normal)

Patient continued to have similar episodes

H/o injuries to both limbs due to hitting the surroundings during the episodes

AT 19 YEARS OF AGE:(2017)

Started Ayurveda medicines along with Tetrabenazine and clonazepam for 5-6 months.

AT 20 YEARS OF AGE:(2018)

Started on Oxcarbazepine

(150- x -300mg)

- Video EEG done- Episodes in Favour of Paroxysomal Hypnogogic Choreoathetosis

Stopped medication for 2 years.

AT 23 YEARS OF AGE: (2021)

Since past 2 months patient is having increased frequency of these episodes, more during the night, even on slight movement during sleep(3-4 hrs), lasting less than a minute along with pain in lower limb joints.

-H/o anger bursts at family members, decreased activity, depressed mood since 2 months.

- skin lesions over buttocks and both limbs since 2 months

- patient has Throat Pain since 2 months 

- difficulty in swallowing 

-Since 1month she developed increased involuntary movements of whole body

Involuntary movements are present mostly during sleep last for 1-5min

Sometimes she develop involuntary movements when she stands up from prolonged sitting position.

PAST HISTORY

Not a k/c/o DM, HTN, epilepsy, asthma.
patient has H/o heat and Cold intolerance 
patient has H/o recurrent oral ulcers

PERSONAL HISTORY

Diet : Mixed

Appetite : normal
Sleep : normal
Bowel and bladder : normal
Addictions : none

FAMILY HISTORY

Paternal grandfather had h/o seizures in his childhood

GENERAL EXAMINATION 

The patient was conscious, coherent and co operative.

She was well Oriented to time, place and person.

Icterus                    - Absent

Pallor                      - Absent 

Clubbing                 - Absent

Cynosis                   - Absent

Lymphadenopathy  - Absent

Edema                    - Absent 

VITALS (on the day of admission)

                     

temperature : afebrile
pulse rate : 84bpm
respiratiory rate : 14cpm
blood pressure : 120/80mmHg
spo2 at room air : 98% at RA

SYSTEMIC EXAMINATION 

• CVS: S1.S2 HEARD
• RS: BAE+, NVBS +
• P/A: SOFT, NON TENDER 
• CNS Examination : NAD

CLINICAL IMAGES :

Ulcers:

INVESTIGATIONS

• Other opinions were taken from respective departments for some secondary issues the patient has

1. ENT opinion in v/o throat pain and pain during swallowing
2. DVL opinion in v/o itchy lesions over gluten region and both lower limbs
3. Psychiatry referral - adjustment disorder due to physical illness

PROVISIONAL DIAGNOSIS 

Chorea?

Acute pharyngitis

Ulcers

Eczema 

PEDIGREE CHART

Day wise progress of PATIENT 

Day 1

S-c/o throat pain

1 fever spike yesterday 

O- pt had 16 episodes of choreiform movements yesterday night ,each lasting less than a minute

Pt - conscious, coherent

Afebrile 

Pr 100 /min

Bp 120/70 mmhg

Rr  cpm 

Spo2 98 % on room air

Cvs- s1s2+

Rs- b/l air entry +

Ophthalmology referral taken - no KF rings

Dvl opinion in v/o itchy lesions over gluten region and both lower limbs

Ent opinion in v/o throat pain and pain during swallowing- mild congestion in posterior pharyngitis wall and anterior pillars

Psychiatry referral - adjustment disorder due to physical illness

?dissociative motor disorder

A- ? Benign hereditary chorea

Acute pharyngitis

Ulcers secondary to ? Folliculitis, trauma with

Eczema 

Adjustment disorder 

P- To start on tab tetrabenazine 12.5 mg po bd

Tab Augmentin 625mg po bd

Tab levocitrezine 10mg po od

Salt water gargles 

Momate f cream for local application bd

Mupirocin gel for local application bd

Day 2

S- c/o Disturbed sleep

throat pain decreased 

No fever spikes

O- pt had 14 episodes of choreiform movements yesterday night  ,each lasting less than a minute

Pt - conscious, coherent

Afebrile 

Pr 86 /min

Bp 120/70 mmhg

Rr  16cpm 

Spo2 98 % on room air

Cvs- s1s2+

Rs- b/l air entry +

Ophthalmology referral taken - no KF rings

Dvl opinion in v/o itchy lesions over gluten region and both lower limbs

Ent opinion in v/o throat pain and pain during swallowing- mild congestion in posterior pharyngitis wall and anterior pillars

Psychiatry referral - adjustment disorder due to physical illness

?dissociative motor disorder

A- ? Benign hereditary chorea

Acute pharyngitis

Ulcers secondary to ? Folliculitis, trauma with

Eczema 

Adjustment disorder 

P-

Tab Augmentin 625mg po bd

Tab levocitrezine 10mg po od

Salt water gargles 

Momate f cream for local application bd

Mupirocin gel for local application bd

Day 3

S- c/o Disturbed sleep

throat pain decreased 

No fever spikes

O- pt had 25 episodes of choreiform movements yesterday night  ,each lasting less than a minute

Pt - conscious, coherent

Afebrile 

Pr 84 /min

Bp 120/70 mmhg

Rr  16cpm 

Spo2 98 % on room air

Cvs- s1s2+

Rs- b/l air entry +

Ophthalmology referral taken - no KF rings

Dvl opinion in v/o itchy lesions over gluten region and both lower limbs

Ent opinion in v/o throat pain and pain during swallowing- mild congestion in posterior pharyngitis wall and anterior pillars

Psychiatry referral - adjustment disorder due to physical illness

?dissociative motor disorder

A- ? Benign hereditary chorea

Acute pharyngitis

Ulcers secondary to ? Folliculitis, trauma with

Eczema 

Adjustment disorder 

P-

Tab Augmentin 625mg po bd

Tab levocitrezine 10mg po od

Salt water gargles 

Momate f cream for local application bd

Mupirocin gel for local application bd

To collect sample for 24hr urinary copper from today mrng.

Day 4

S- c/o Disturbed sleep

throat pain decreased 

No fever spikes

O- pt had 28episodes of choreiform movements yesterday night  ,each lasting less than a minute. Frequency and intensity of episode has increased

Pt - conscious, coherent

Afebrile 

Pr 84 /min

Bp 120/70 mmhg

Rr  16cpm 

Spo2 98 % on room air

Cvs- s1s2+

Rs- b/l air entry +

Ophthalmology referral taken - no KF rings

Dvl opinion in v/o itchy lesions over gluten region and both lower limbs

Ent opinion in v/o throat pain and pain during swallowing- mild congestion in posterior pharyngitis wall and anterior pillars

Psychiatry referral - adjustment disorder due to physical illness

?dissociative motor disorder

A- ? Benign hereditary chorea

Acute pharyngitis

Ulcers secondary to ? Folliculitis, trauma with

Eczema 

Adjustment disorder 

Iron deficiency anemia sec to ? Nutritional

P-

Tab Augmentin 625mg po bd

Tab levocitrezine 10mg po od

Salt water gargles 

Momate f cream for local application bd

Mupirocin gel for local application bd

To send samples for serum copper , cerruloplasmin and 24hr urinary copper excretion today and discharge her