21 year old female with anemia

 21 year old female came to gm op with chief complaints of easy fatiguability ,light headedness since 7 years 

C/o sob since 7 years ( sometimes ) 

No c/o Fever, burning micturation,vomitings, loose stools 

No c/o involuntary movements or tingling sensation or numbness . 

HISTORY OF PRESENTING ILLNESS:

Patient was apparently asymptomatic 20 years back then she developed fever , edema over the fronto parietal region and irritability she was admitted in the hospital treated ( her hospital stay was around 10 days and she was discharged )

At the age of 3 years she had an episode of giddiness and was unconscious, she was again admitted in the hospital and then they were told that she had low levels of hemoglobin and she underwent blood transfusion.

At 15 years of age she was taken to the hospital for weakness, giddiness , she was admitted in the hospital and had second episode ofblood transfusion, her hemoglobin level improved to 9 after blood transfusion.

Few months after blood transfusion she started feeling weak and again went to the hospital , then her blood hemoglobin went down to 4 . 

Since 3 to 4 months she complains of joint pains 

Since 20 days she has allergy over her palms ,she has itching all over her hands relieved after taking medication at local hospital.

Since 20 days anasarca ( intermittently ) 

Resolved by its own . Last episode 2 days back 

From 10 years of age she started noticing hyperpigmentation patches on her body which was slowly progressive to current stage .(neurofibromatosis ) 

Past history: history of trauma to head at the age of 10 while playing under a tree .

Daily routine: 

Childhood 

During the days she felt alright:

She wakes up at 6 Am ,does all the house hold work , she helps her mother and has breakfast at 8 Am and goes to school by walk (around 2 km ) , and comes back in the evening around 5 (by walk ) and plays with her friends and has dinner at 8 pm and goes to sleep by 10 pm 

During summer holidays she went to work in the field ( cotton farms and chilli farms ) 

From morning 10 Am to evening 5 pm .

She studied till intermediate and didn’t go any further to college because of illness. 

After progression of her illness she didn’t go to work in the fields , she helped her mother in all the household activities.

PAST History:

She  is not a known case of DM, HTN, CVA, CAD, asthma, epilepsy.

FAMILY HISTORY:

Her sister has low value of hemoglobin (hb -6 gm/dl),but her sister doesn’t complain of any weakness.

Her mother has neurofibromatosis 

GENERAL EXAMINATION: 

Patient is conscious, coherent and co-operative.

Mooderately built and moderately nourished.

Pallor - present 

Icterus - Absent

Cyanosis - Absent 

Clubbing - Absent 

No lymphadenopathy

Pedal edema- 

Vitals : 

Temperature - 98.2 F 

Blood Pressure - 120/80mm hg 

Pulse Rate -   82 bpm

Respiratory Rate -  16  cpm

SYSTEMIC EXAMINATION: 

PER ABDOMINAL EXAMINATION:

INSPECTION-

Shape of abdomen : flat

Umbilicus : inverted 

All quadrants of abdomen move with respiration 

No visible peristalsis, pulsations, sinuses, engorged veins, hernial sites 

PALPATION-

Abdomen soft

No local rise of temperature 

No tenderness

Inspectors findings are confirmed 

organomegaly - moderate splenomegaly 

PERCUSSION:

Resonant note heard over all quadrants.

AUSCULTATION:

Bowel sounds heard  

CVS EXAMINATION:

INSPECTION

The chest wall is bilaterally symmetrical

No dilated veins, scars or sinuses are seen

Apical impulse not visible

PALPATION:

Apex beat localised 

AUSCULTATION:

S1 and S2 heard

No Murmurs 

RS EXAMINATION:

INSPECTION: 

Shape of chest: bilaterally symmetrical

Expansion of chest: Equal on both sides

Position of trachea: Central

No visible scars, sinuses, pulsations

PALPATION:

Inspectory findings confirmed

No tenderness, local rise of temperature

Normal expansion of chest on both sides in all areas

Position of trachea: Central

Vocal fremitus: resonant note felt

PERCUSSION:

Resonant note heard over all areas

AUSCULTATION:

BAE positive

Vocal resonance: resonant in all areas

CNS :No focal neurological deficit.

Patients mother:

Provisional diagnosis:

Iron deficiency Anemia secondary to ? Blood loss ? Thalassemia minor k/c/o neurofibromatosis.

Investigations:

ECG 

2d echo :

Trivial TR/AR/MR 

No RWMA , NO AS/MS 

Good LV systolic function, No diastolic dysfunction.

4/7/2023 investigations 

Hemogram :

Hb-6.4

TlC- 11200

N /L/E/M -35,19,41,5

PCV-25.9 

MCV- 56.9

MCH-14.1

MCHC-24.7 

RDW-27.2

Smear: 

MICROCYTIC HYPOCHROMIC FEW PENCIL FORMS AND TARGET CELLS SEEN 

WBC :normal limit with eosinophilia 

Plt - adequate 

BGT :A positive 

RETICULOCYTE : 1.5 

BLOOD UREA -18

SERUM CREATININE:0.6

Na - 140 

K -4.7

Cl-102

LFT :

Total bilirubin: 0.49

Direct bilirubin:0.15

AST-14 

ALT-10 

ALP-128 

TP:6.7 

ALBUMIN: 4.35 

A/g :1.85 

Serology: negative.

Ultrasound 5/7/2023

Mild splenomegaly .

Serum ferritin :73.5 ng/ml

Stool for occult blood - negative 

8-7-2023

HBA -98.4%

HBA2-1.6%

TIBC-394 ug/dl 

TRANSFERRIN SATURATION -8%

UIBC-363.9ug/dl 

IRON -30ug/dl 

Hemogram 10. -7-23

Hb-6.8 

TLC -7500 

N -30 ,L-25 ,E-40 ,M-5 , B-0 

PCV-27.3 

MCV-59

MCHC -24.9 

MCH-14.7