A 17 year old girl with mucosal hyperpigmentation and hypothyroidism

This is an 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 patient's clinical problems with collective current best evidence based inputs". This E log book also reflects my patient-centred online learning portfolio and your valuable comments on comment box is welcome. 

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.



A 17 year old female; student; resident of Mothkur, presented with the chief complaints of :

Vomitings since one week

Loose stools since one week



History of presenting illness:

Patient was apparently alright 10 years ago then her mother noticed a swelling in the anterior aspect of patient's neck which was painless and was gradually increasing in size. She was taken to hospital where she was diagnosed to have HYPOTHYROIDISM and was started on tab. Thyroxine sod. 25mcg

She developed PICA since 3 years (had been eating chalks and slate pencils). She also has a habit of leg shaking.( Restless leg Syndrome?)

She also complains of AMENORRHEA since 3 months (since August) . 

Age of menarche - 11 years

30 day cycle, regular, menses for 4-5 days, changes 4 pads per day, not a/w pain abdomen , clots, burning micturition, discharge, change in voice, abnormal hair growth, hair loss.

LMP- 25/10/22. Associated with clots (2*2) cm

She is a known case of Anemia since 3 years and complains of SOB on exertion or climbing stairs (NYHA-ll) . She also complains of feeling DIZZY as soon as she gets up from the bed.

No h/o sweating, tremors, loss of consciousness, palpitations, headache, muscle pains. 

She has a weight gain of nearly 20 kg from past 2-3 years., i e from 45 to 65 kgs.

She now complains of vomitings after food since one week which was sudden in onset, projectile, non bilious non blood stained, non foul smelling, food as content.. occuring 5× a day  

Watery Diarrhea since one week, sudden in onset, non blood stained, non foul smelling, 4-5 times a day, associated with pain abdomen 

Not a/w abdominal distension, constipation, purulent discharge in stools



Past history: 

No h/o similar complaints in the past

K/c/o hypothyroidism since age of 7 years 

No h/o DM, HTN, Bronchial asthma, CAD, TB, epilepsy.

No h/o blood transfusions



Personal history: 

Diet- mixed diet

patient has been staying in hostel since 10 years

According to her dietary routine, she has deficit of milk and leafy vegetable consumption.
She complains of loss of appetite since one week

Sleep - adequate

Bowel and bladder movements- regular

No Addictions



Family history

Mother is a k/c/o hypothyroidism and on THYRONORM 100mcg



Drug history

She has been on thyroxine sod since 10 years.


Allergic history: 
She had an allergy 3 years back for which she had rashes on her body and subsided on medication



General physical examination: 

Patient is concious coherent and cooperative well oriented to time place and person

Well built and nourished

Height- 160 cm

Weight- 65kg

BMI- 25.4 (overweight)

Vitals 

Temperature- afebrile

HR

BP

RR

GRBS



Pallor - present

Icterus, clubbing, cyanosis pedal edema - absent

Submandibular and cervical lymph nodes enlarged.



Tongue- 

Pale smooth and shiny
Hyperpigmentation over knuckles and  palmar creases present
O/E of oral cavity:

hyperpigmented patches were noticed on palate and mucosa of cheek on either side

Angular stomatitis, yellowish brown pigmentation over teeth noted.

ACANTHOSIS NIGRICANS OVER NECK-

Systemic examination-



GIT examination- 

Inspection-

Shape of abdomen- scaphoid

No scars sinuses visible pulsations dilated veins abdominal distension

All quadrants moving with respiration

Umbilicus everted

On palpation-

No tenderness

No local rise of temperature

Soft abdomen, no organomegaly

On Percussion- 

Liver dullness in 5th ICS

On auscultation-

Bowel sounds heard



CVS

Inspection-

Shape of chest- elliptical

No scars dilated veins

No raised JVP

Palpation-

Apex beat felt in left 5th ICS MCL

No thrills, parasternal heave felt

On auscultation-

S1 S2 heard, no murmurs



Respiratory system examination-

Shape of chest elliptical

B/l symmetrical expansion of chest wall+

Position of trachea- central

Resonance present in all lung fields

BAE+ NVBS+

No crepitations heard
CNS examination

Higher mental functions- intact

Cranial nerves intact 

Sensory- fine touch, crude touch, pressure, temperature, vibration senses intact.

Motor system

Power: 5/5 in both UL and LL

Tone- normal 

Bulk - normal

Reflexes:

Biceps, Triceps Supinator Knee reflexes intact (++) 

Ankle reflex 5+

No cerebellar signs noticed





Local examination of thyroid

A diffuse swelling in anterior aspect of neck 7*8 cm approx was noticed, moves with deglutition, skin on swelling normal , no scars fistula seen 

Non tender ,Smooth surface, firm in consistency, trachea central, carotid pulsations present.

No bruit on auscultation

Investigations- 

Hemogram:

Sr. Iron
Peripheral smear
Dimorphic picture showing microcytic and macrocytic cells with pencil cells, elliptocytes, few tear drop cells

WBC normal morphology

Platelets increased


Sr. Calcium:
Thyroid function tests:

Sr. Ferritin
CXR
USG neck
USG of abdomen - no abnormalities detected

Uterus- polycystic morphology detected in both the ovaries

Cystitis seen


ECG :
In suspicion of Addison's 

cosynaptin stimulation test was done. 



Inj. ACTH was given on 4:30 pm on 2/11/22

Reports on 3/11/22:



Levels of sr.cortisol at 5:30 pm
Baseline cortisol levels at 8am:
Provisional diagnosis:

Pernicious Anemia with autoimmune thyroiditis



TREATMENT:



1.NALMOL 

2.TAB.PANTOP 40mg BD

3.TAB.ZOFER 4mg SOS

4.TAB.SPOROLAC (ROUTE:PERORAL) BD

5.TAB.DOLO 650mg SOS

6.TAB.THYRONORM 25mcg OD

7.ORS SACHET IN 1LT WATER TO DRINK AFTER EACH LOOSE STOOLS.

8.VITALS STORING EVERY 4TH HRLY



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