Down's Syndrome with autoimmune Polyglandular syndrome

This is an online e log book to discuss our patient de-identified health data shared after taking his / her / guardians signed informed consent. Here we discuss our individual patients problems through series of inputs from available global online community of experts with an aim to solve those patients clinical problem with collective current best evident based input.

This E blog also reflects my patient centered online learning portfolio and your valuable inputs on the 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 competency in reading and comprehending clinical data including history, clinical findings, investigations and come up with diagnosis and treatment plan.


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

CHIEF C/O 
LETHARGY FROM 1 WEEK

14 /M BORN OUT OF CONSANGINOUS MARRIAGE , 4TH CHILD TO HIS PARENTS, 3 ELDER SIBLINGS, 2 SISTERS AND 1 BROTHER
CONGENITAL DOWNS SYNDROME

PT WAS A/A 6 YRS BACK WHEN HE DEVELOPED SUDDEN GENERALISED WEAKNESS AND WAS TAKEN TO A HOSPITAL IN AN ALTERED MENTAL STATE ,FOUND TO HAVE HYPERGLYCEMIA(?DKA).
PT WAS EVALUATED AND FOUND TO HAVE TYPE 1 DM AND WAS ADVISED INSULIN SINCE THEN 3 YRS BACK PT AGAIN DEVELOPED SIMILAR COMPLAINTS FOR WHICH INSULIN DOSE WAS INCREASED , 1 MONTH BACK DEVELOPED SUDDEN INVOLUNTARY MOVEMENTS IN HANDS
AND FEET , FOUND TO HAVE HYPOGLYCEMIA
PT ALSO FOUND TO HAVE LOW HB,WBC,RBC,PLT(?PANCYTOPENIA)
PT WAS MANAGED CONSERVATIVELY AND DISCHARGED AFTWER WHICH HE DEVELOPED CURRENT SYMPTOMS WITH IN 2 DAYS

PAST HISTORY: K/C/O DM SINCE 6 YRS
NO H/O HTN,ASTHMA,TB
PERSONAL HISTORY:
APPETITE REDUCED FROM PAST 2 MONTHS
MIXED DIET
REGULAR BOWEL AND BLADDER MOVEMENTS
NO ADDICTIONS

FAMILY HISTORY : NOT SIGNIFICANT

ON EXAMINATION :
PT IS C/C/C
AFEBRILE
BP: 120/80 MM HG
PR 70 BPM
CVS: S1 S2 HEARD
RS: NVBS +
CNS: NO FAD




























Day 1
Dermatology referral taken in view of hyperpigmentation of hands and peri oral region. A diagnosis of Addison's pigmentation and acanthosis nigricans was made.
S
No c/o black colored stools, blood
stools.
O
Pallor +
Clubbing -
PR - 91 bpm
BP - 100/70mmhg
Afebrile
Spo2 - at 99% on RA
RR - 18 cpm
CVS - S1 S2 +
RS - BAE +
CNS - No FAD
Per Abdomen - Soft, non-tender, Bowel sounds +
A
Autoimmune Polyglandular Syndrome?Down's SyndromeK/C/O Type 1 DM since 8 years ? Addison's
P
1. VIT
B12 inj 1000 micrograms IV OD
2. IVF 1 unit NS at 75ml/hr
3. Inj HAI 6-6-6 (8am 2pm 8am)
4. Inj NPH 5-x-5 (8am 8pm)
5. GRBS monitoring
6. Strict I/O charting

DAY 2
Cardiology referral taken with 2d echo.
No abnormality detected. ENT opinion taken. Ciproflox ear drops added. Review after 1 week.
Endocrinology opinion take. Adviced 8 am serum cortisol, iron profile, free T3 and free T4 adviced.
Samples sent awaiting reports.
S
No c/o black colored stools, blood stools or lethargy.
O
Pallor +
Clubbing -
PR - 91 bpm
BP - 100/70mmhg
Afebrile
Spo2 - at 99% on RA
RR - 18 cpm
CVS - S1 S2 +
RS - BAE +
CNS - No FAD
Per Abdomen - Soft, non-tender, Bowel sounds +
A
Autoimmune
Polyglandular Syndrome?Down's SyndromeK/C/O Type 1 DM since 8 years ? Addison's
P
1. VIT B12 inj 1000 micrograms IV OD
2. IVF 1 unit NS at 75ml/hr
3. Inj HAI 6-6-6 (8am 2pm 8am)
4. Inj NPH 5-x-5 (8am 8pm)
5. ZYTEE gel for L/A on oral mucosa before food
6. CIPROFLOX D ear drops
7. GRBS
monitoring
8. Strict I/O charting

DAY 3
S
No c/o black colored stools, blood stools or lethargy. Surgery
cross consultation with PR examination and proctoscopy for H/o blood in stools. Fissure in ano diagnosed. Oint Anobliss, high fibre diet and sitz bath adviced.
O
Pallor +
Clubbing -
PR - 91 bpm
BP -
100/70mmhg
Afebrile
Spo2 - at 99% on RA
RR - 18 cpm
CVS - S1 S2 +
RS - BAE +
CNS - No FAD
Per
Abdomen - Soft, non-tender, Bowel sounds +
Urea - 118mg/dl
Creatinine - 2.8mg/dl
Na - 137meq
K -
43meq
Cl - 104meq
Sr Iron 81.2mcg
A
Autoimmune Polyglandular Syndrome?Down's SyndromeK/C/O
Type 1 DM since 8 years
P
1. VIT B12 inj 1000 micrograms IV OD
2. IVF 1 unit NS at 75ml/hr
3. Inj HAI 6-6-6 (8am 2pm 8am)
4. Inj NPH 5-x-5 (8am 8pm)
5. ZYTEE gel for L/A on
oral mucosa before food
6. CIPROFLOX D ear drops
7. GRBS monitoring
8. Strict I/O charting

DAY 4
S
No c/o black colored stools, blood stools
O
Pallor +
Clubbing -
PR - 90 bpm
BP - 100/70mmhg
Afebrile
Spo2 - at 99% on RA
RR - 18 cpm
CVS - S1 S2 +
RS - BAE +
CNS - No FAD
Per Abdomen - Soft, non-tender, Bowel sounds +
A
Autoimmune Polyglandular Syndrome?Down's
SyndromeK/C/O Type 1 DM since 8 years ? Addison's
P
1. VIT B12 inj 1000 micrograms IV OD
2. IVF 1 unit NS at 75ml/hr
3. Inj HAI 6-6-6 (8am 2pm 8am)
4. Inj NPH 5-x-5 (8am 8pm)
5. ZYTEE gel for L/A on oral mucosa before food
6. CIPROFLOX D ear drops
7. Oint ANOBLISS for l/a
8. GRBS monitoring
9. Strict I/O charting

DAY 5
S
No c/o black colored stools, blood stools
O
Pallor +
Clubbing -
PR - 97 bpm
BP - 100/60mmhg
Afebrile
Spo2 - at 99% on RA
RR - 18 cpm
CVS - S1 S2 +
RS - BAE +
CNS - No FAD
Per Abdomen - Soft, non-tender, Bowel sounds +
Free T4 0.99ng/dl
Iron 35mcg/dl
TIBC 387mcg/dl
Transferritin saturation 26.5%
Post stimulation

Pre stimulation


A
Autoimmune Polyglandular Syndrome?Down's SyndromeK/C/O Type 1 DM since 8 years
P
1. VIT B12 inj 1000 micrograms IV OD
2. IVF 1 unit NS at 75ml/hr
3. Inj HAI 6-6-6 (8am 2pm 8am)
4. Inj NPH 5-x-5 (8am 8pm)
5. ZYTEE gel for L/A on oral mucosa before food
6. CIPROFLOX D ear drops
7. Oint ANOBLISS for l/a
8. GRBS monitoring
9. Strict I/O charting

DAY 6
The patient was taken for Dermatology referral as there is a hypopigmented patch over the undersurface of scrotum a/w itching.
S
No c/o black colored stools, blood stools
O
Pallor +
Clubbing -
PR - 97 bpm
BP - 100/60mmhg
Afebrile
Spo2 - at 99% on RA
RR - 18 cpm
CVS - S1 S2 +
RS - BAE +
CNS - No FAD
Per Abdomen - Soft, non-tender, Bowel sounds +
A
Autoimmune Polyglandular Syndrome?Down's Syndrome K/C/O Type 1 DM since 8 years
P
1. VIT B12 inj 1000 micrograms IV OD
2. IVF 1 unit NS at 75ml/hr
3. Inj HAI 6-6-6 (8am 2pm 8am)
4. Inj NPH 5-x-5 (8am 8pm)
5. ZYTEE gel for L/A on oral mucosa before food
6. CIPROFLOX D ear drops
7. Oint ANOBLISS for l/a
8. GRBS monitoring
9. Strict I/O charting

Day 7
S
No c/o black colored stools, blood stools
O
Pallor +
Clubbing -
PR - 97 bpm
BP - 100/60mmhg
Afebrile
Spo2 - at 99% on RA
RR - 18 cpm
CVS - S1 S2 +
RS - BAE +
CNS - No FAD
Per Abdomen - Soft, non-tender, Bowel sounds +
A
?Down's Syndrome K/C/O Type 1 DM since 8 years with Addison's disease, Pancytopenia secondary to B12 defeciency with b/l CSOM with Fissure in ano with Generalised xerosis with Intertrigo (on scrotum)
P
1. VIT B12 inj 1000 micrograms IV OD
2. IVF 1 unit NS at 75ml/hr
3. Inj HAI 6-6-6 (8am 2pm 8am)
4. Inj NPH 5-x-5 (8am 8pm)
5. ZYTEE gel for L/A on oral mucosa before food
6. CIPROFLOX D ear drops
7. Oint ANOBLISS for l/a
8. CANDID cream for l/a bd
9. LIQUID PARAFFIN all over the body bd
10. Tab TECZINE 5mg od
11. GRBS monitoring
12. Strict I/O charting

Day 8
S
No c/o black colored stools, blood
stools
O
Pallor +
Clubbing -
PR - 97 bpm
BP - 100/60mmhg
Afebrile
Spo2 - at 99% on RA
RR - 18 cpm
CVS - S1 S2 +
RS - BAE +
CNS - No FAD
Per Abdomen - Soft, non-tender, Bowel sounds +
A
?Down's Syndrome K/C/O Type 1 DM since 8 years with Addison's disease, Pancytopenia
secondary to B12 defeciency with b/l CSOM with Fissure in ano with Generalised xerosis with Intertrigo (on scrotum)
P
1. VIT B12 inj 1000 micrograms IV OD
2. IVF 1 unit NS at 75ml/hr
3. Inj HAI 6-6-6 (8am 2pm 8am)
4. Inj NPH 5-x-5 (8am 8pm)
5. ZYTEE gel for L/A on oral mucosa before food
6. CIPROFLOX D ear drops
7. Oint ANOBLISS for l/a
8. CANDID cream for l/a bd
9. LIQUID PARAFFIN
all over the body bd
10. Tab TECZINE 5mg od
11. GRBS monitoring
12. Strict I/O charting

Day 9
S
No c/o black colored stools, blood stools
O
Pallor +
Clubbing -
PR - 97 bpm
BP - 100/60mmhg
Afebrile
Spo2 - at 99% on RA
RR - 18 cpm
CVS - S1 S2 +
RS - BAE +
CNS - No FAD
Per Abdomen - Soft, non-tender, Bowel sounds +
A
?Down's Syndrome K/C/O Type 1 DM since 8 years with Addison's disease, Pancytopenia secondary to B12 defeciency with b/l CSOM with Fissure in ano with Generalised xerosis with Intertrigo (on scrotum)
P
1. IVF 1 unit NS at 75ml/hr
2. Inj HAI 6-6-6 (8am 2pm 8am)
3. Inj NPH 5-x-5 (8am 8pm)
4. ZYTEE gel for L/A on oral mucosa before food
5. CIPROFLOX D ear drops
6. Oint ANOBLISS for l/a
7. CANDID cream for l/a bd
8. LIQUID PARAFFIN all over the body bd
9. Tab TECZINE 5mg od
10. GRBS monitoring
11.Strict I/O charting

Day 10
Patient was taken for ENT review. Aural toilet was done. Adviced to continue
CIPROFLOX ear drops for 5 more days and was told to keep the ear dry.
S
No c/o black colored stools, blood stools
O
Pallor +
Clubbing -
PR - 97 bpm
BP - 100/60mmhg
Afebrile
Spo2 - at 99% on RA
RR - 18 cpm
CVS - S1 S2 +
RS - BAE +
CNS - No FAD
Per Abdomen - Soft, non-tender, Bowel
sounds +
A
?Down's Syndrome K/C/O Type 1 DM since 8 years with Addison's disease, Pancytopenia
secondary to B12 defeciency with b/l CSOM with Fissure in ano with Generalised xerosis with Intertrigo (on scrotum)
P
1. IVF 1 unit NS at 75ml/hr
2. Inj HAI 6-6-6 (8am 2pm 8am)
3. Inj NPH 5-x-5 (8am 8pm)
4. ZYTEE gel for L/A on oral mucosa before food
5. CIPROFLOX D ear drops
6. Oint ANOBLISS for l/a
7. CANDID cream for l/a bd
8. LIQUID PARAFFIN all over the body bd
9. Tab TECZINE 5mg od
10. GRBS monitoring
11.Strict I/O charting

Day 11
S
No c/o black colored stools, blood stools
O
Pallor +
Clubbing -
PR - 97 bpm
BP - 100/60mmhg
Afebrile
Spo2- at 99% on RA
RR - 18 cpm
CVS - S1 S2 +
RS - BAE +
CNS - No FAD
Per Abdomen - Soft, non-tender, Bowel sounds +
A
?Down's Syndrome K/C/O Type 1 DM since 8 years with Addison's disease, Pancytopenia secondary to B12 defeciency with b/l CSOM with Fissure in ano with Generalised xerosis with Intertrigo (on scrotum)
P
1. IVF 1 unit NS at 75ml/hr
2. Inj HAI 6-6-6 (8am 2pm 8am)
3. Inj NPH 5-x-5 (8am 8pm)
4. ZYTEE gel for L/A on oral mucosa before food
5. CIPROFLOX D ear drops
6. Oint ANOBLISS for l/a
7. CANDID cream for l/a bd
8. LIQUID PARAFFIN all over the body bd
9. Tab TECZINE 5mg od
10. GRBS monitoring
11.Strict I/O charting

Day 12
S
No c/o black colored stools, blood stools
O
Pallor +
Clubbing -
PR - 97 bpm
BP - 100/60mmhg
Afebrile
Spo2 - at 99% on RA
RR - 18 cpm
CVS - S1 S2+
RS - BAE +
CNS - No FAD
Per Abdomen - Soft, non-tender, Bowel sounds +
A
?Down's Syndrome K/C/O Type 1 DM since 8 years with Addison's disease, Pancytopenia secondary to B12 defeciency with b/l CSOM with Fissure in ano with Generalised xerosis with Intertrigo (on scrotum)
P
1. IVF 1 unit NS at 75ml/hr
2. Inj HAI 6-6-6 (8am 2pm 8am)
3. Inj NPH 5-x-5 (8am 8pm)
4. ZYTEE gel for L/A on oral mucosa before food
5. CIPROFLOX D ear drops
6. Oint ANOBLISS for l/a
7. CANDID cream for l/a bd
8. LIQUID PARAFFIN all over the body bd
9. Tab TECZINE 5mg od
10. GRBS monitoring
11.Strict I/O charting

Discharge summary

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