14 YR MALE PRESENTED WITH HISTORY OF PASSING BLOOD IN STOOLS AND URINE FOR 2 DAYS

Anigani Kavya

Roll number- 06

4th year MBBS

This is an online E-log book to discuss our patient de-identified health data shared after taking his/ her guardians sign informed consent

Here we discuss our individual patient problems through series of inputs from available Global online community of experts with an aim to solve those patient clinical problem with collective current best evidence based inputs.

This E-log also reflects my patient centered online learning portfolio.

Your valuable inputs on comment box is welcome

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

CASE DISCUSSION 

A 14year old male patient resident of Suryapet has come to the OPD with 

1.History of passing blood in stools and urine for 2days (2 episodes)

2.Lethargy from 1week

History of presenting illness:

Patient was born out of consanguineous marriage, 4th child to his parents, 3 elder siblings, 2 sisters and 1 brother.

Patient was apparently asymptomatic 6 years back later he developed sudden generalized weakness and was taken to hospital in an altered mental state. 

Patient was evaluated and found to have type 1 diabetes mellitus. He was advised insulin since then.

3years back patient again developed similar complaints for which insulin dose was increased.

Hyperpigmentation of skin, both hands and feet,around the mouth and neck since 6months.

1month back he developed involuntary movements in hands and feet, found to have hypoglycemia.

Patient was also found to have low HB, WBC,RBC, PLT

Patient was managed conservatively and discharged after which he developed current symptoms within 2days

17.8.2021

He was admitted in Osmania, 2 blood transfusions were done

Before transfusion HB- 2.7

After transfusion HB- 7.8

Vitamin B12 levels- 150

PAST HISTORY:

Know case of Type 1 DM since 6years

No H/O HTN, Asthma, TB

PERSONAL HISTORY:

Diet: Mixed
Appetite: Reduced from past 2months 
Bowl and bladder movements- Regular
Sleep: Inadequate

No addictions

FAMILY HISTORY : NOT SIGNIFICANT
 

GENERAL EXAMINATION :
Patient is conscious, coherent and cooperative, well oriented to time,place and person.

Vitals:

Blood pressure:100/60mmHg

Pulse rate-70 BPM

GRBS- 217

Afebrile

Height -119 cms
Weight -22 kgs (Height weight less than 3 rd percentile)
Pallor- present
Icterus- present

Cyanosis- absent

Clubbing- absent

Lymphadenopathy- absent
Hyperpigmented knuckles +
Single palmar crease
Hyperpigmented patches over the palate seen

Suggestive features of Down's syndrome:

-Short stature 

-Gap between 1st and 2nd toe

-Palmar crease 

-Epicanthic eye fold

CVS: S1 S2 HEARD
Para-sternal heave

RS: NVBS +

CNS: No focal deficit

INVESTIGATIONS:

1.9.21

APTT:

Prothrombin Time:

Peripheral smear:

2.9.21

Hemogram:

Prothrombin Time:

Reticulocyte count:

Blood parasites (MP):

Urinary sodium:

Urinary Potassium:

Urinary chloride:

Urine protein/creatinine ratio:

Serum iron:

Stool for occult blood:

Combs test:

Albumin-2.8

Urea: 151

Creatinine- 3.5

ECG

USG

Impression:

Mild ascites

Thin internal echos noted in Urinary bladder

Cross consultation reports:

Dermatology               

Ophthalmology

 

ENT

     

Dental

Surgery:

Provisional diagnosis:

Down's syndrome

Autoimmune polyglandular syndrome- II

(type 1 diabetes,addisons)

Vitamin B12 anemia with hemolysis. 

?Hemolytic uremic syndrome.

Fissure in ANO

Treatment:

1.9.21 (Day 1)

1.INJ Vit B12 1000mcg IV OD

2.Insulin drip according to sliding scale

3. Tab MVT PO OD

4. I/O charting

2.9.21 (Day 2)

1.INJ VIT B12 1000mcg IV OD

2.IVF- NS @75ml/hr

3..INJ HAI S/C TID

4.INJ NPH S/C BD

5.GRBS profile

6.BP/PR/TEMP/RR MONITORING 12th Hourly

7.I/O charting

3.9.21 (Day 3)

1.INJ VIT B12 1000mcg IV OD

2.IVF- NS @75ml/hr

3..INJ HAI S/C TID

4.INJ NPH S/C BD

5.GRBS profile

6.BP/PR/TEMP/RR MONITORING 12th Hourly

7.I/O charting

4.9.21 (Day 4)

1.INJ VIT B12 1000mcg IV OD

2.IVF- NS @75ml/hr

3..INJ HAI S/C TID

4.INJ NPH S/C BD

5.ZyTEE gel for L/A on oral mucosa before food

6.Ciproflox-D ear drops

7.GRBS monitoring

Questions

1. What is the cause of blood in stool and urine in this patient?

2. What causes Autoimmune polyglandular syndrome type 2? Is it inherited?