20M OPD PUO MASSIVE SPLENOMEGALY, SHORT STATURE AND DELAYED PUBERTY 2YRS. TELANGANA. PAJR.
This is an online E Log book to discuss our patient's de-identified health data shared after taking his signed informed consent. Here we discuss our patient's problems through series of inputs from available global online community experts with an aim to solve those patients clinical problems with collective current best evidence based inputs.
20-09-2021
FIRST ADMISSION
CASE HISTORY AND CLINICAL FINDINGS
15yr old boy came to the OPD with the chief complaints of bleeding gums since 3 days.
Oral ulcers since 3 days.
Blackish discoloration on RT side of abdomen since 4 days.
HISTORY OF PRESENT ILLNESS
Patient was apparently asymptomatic 4 days back when the mother noticed Blackish blue discoloration on the right iliac area with no alleged history of trauma, no tenderness followed by bleeding gums and Oral ulceration with low grade of fever since 3 days.
No H/O cough, cold, pain abdomen, loose stools, vomiting.
H/O Blackish hyperpigmented spots on abdomen and dorsum of forearm.
No similar complaints in the past.
No H/O delayed milestones.
Patient is active in school.
EXAMINATION
Patient is conscious, coherent, and cooperative.
Pallor - present. Moderate dehydration.
VITALS
Afebrile
PR - 80
BP - 80/50 mmhg
Spo2 - 96%
CVS - S1 S2 Heard
BAE + NVBS
P/A - Soft, non tender BS +
CNS - Normal
INVESTIGATIONS
Chest X ray - Normal
ECG - Normal
USG Abdomen - Mild ascites.
Mild Splenomegaly.
HEMOGRAM
20-09-2021
HB - 8.7
PLT - 11,000
PCV - 25.7
MCHC - 33.9
MCV - 75.1
RBC Count - 3.42
TLC - 2500
21-09-2021
HB - 7.4
PLT - 30,000
PCV - 21
MCHC - 33.3
MCV - 76.9
RBC Count - 2.73
TLC - 2100
22-09-2021
HB - 6.7
PLT - 9,800
PCV - 20.5
MCHC - 32.7
MCV - 77.4
RBC Count - 2.65
TLC - 1600
USG Neck - Bilateral.
Cervical Lymphadenopathy with 8mm on right side at level 1B and 5-6mm on left side at level 2.
Retic Count - 0.3% absolute
Retic Count - 0.1% LDH:294(N)
Serum Iron - 69 (N)
Rapid Dengue - Negative (NS1, IgG, IgM)
Stool for occult blood - Negative
Urine C/S - No puss cells seen, no growth.
04-11-2024
C/c - A 17yr old male patient came to OPD with a chief complaints of repeated fever and decrease in blood count for 2yrs.
HISTORY OF PRESENT ILLNESS
Difficulty in breathing when he was 7 month old.
Recurrent fever associated with decrease in blood cell count when he was 7 yrs old.
Visible and palpateable splenomegaly.
Onset - Sudden.
Progression - Gradual Progression (low grade)
Evening rise in temperature.
Aggravating factors - None
Relieving factors - By medication.
PAST HISTORY
N/K/C/O DM, HTN, TB, Thyroid, Epilepsy
CAD, CVA.
H/O Blood transfusion done 1yr ago.
Family history - No family history.
Personal history
Sleep - Normal
Apetite - Low
Diet - Mixed
Bowel and Bladder movements - Normal
Addictions - No
VITALS
Temperature - Afebrile
Pulse rate - 94 bts/min
Respiratory rate - 17 cycles/min
B.P - 120/80mmHg.
GENERAL EXAMINATION
Patient's consent was taken.
Patient was examined in a well lit room.
He was conscious, coherent, cooperative.
Pallor (-) Icterus (-) Cyanosis (-) Clubbing (-) Lymphadenopathy (-) Edema (-)
PPM 1 -
The patient advocate is a staff here but stuck to synchronous communication mode and hence we were disconnected for a year.
PPM 1 - Any idea what was their disability assessment @PPM3?
PPM 3 - Intellectual deficit or Specific learning Disability? There is a pediatrician Dr. Mary whom they shall meet. PaJR 🤔
PPM 1 - None that we could find. He simply had features of panhypopituitarism and hypertension.
PPM 3 - Oh he is wasting time here. They don't have
1. Authority to certify
2. Diagnostic paraphernalia.
It is good for
1. Psychological assessment if the certifying authority has referred.
2. Educational and Social rehabilitation if facing issues in school. May contact me or get in touch on PaJR if they have.
PPM 1 - 👍 He studies in college in a degree course although he looks like a school student possibly due to his panhypopituitarism as both his primary and secondary sexual Characteristics are more like a child.
This is their PaJR @PPM3 but as mentioned before they are not asynchronous communication savvy and hence the PaJR is unused till now. 🙏
PPM 3 - Will get certificate of Dwarfism after confirmed diagnosis by the expert.
Can use this link if they don't have UDID.
PPM 1 - 👍
PPM 3 - UDID
https://www.swavlambancard.gov.in/registration.
All members please note this link and spread to those who feel they have even a minor but permanent disability.
PPM 1 - 👍 Those who don't have will be rejected by the disability board. But those who have will get certified. At least fake people like this won't kill the rights of genuine people any more.
PPM 3 - Compulsorily in force in digital form since 1-7-24. Thanks to Secretary, DE PWD, MoSJE, GOI a concerned and positive human.🙏
04-11-2024
PPM 1 - The patient appears to have developed an acute hemolysis
2. over the last few weeks after a febrile period with hemoglobin today dropping to 4g as attached and unconjugated bilurubin in elevating to 5! Our primary diagnosis is portal hypertension driven hypersplenism but then can they also have intermittent bouts suggestive of Autoimmune hemolysis.
@Meta AI can you answer the above question?
Meta AI - Regarding the updated case report:
SUMMARY:
A 19yr old male with short stature, previously discussed, was lost to follow up. He now presents with:
1. Acute hemolysis episodes
2. Hemoglobin dropped to 4g/dl.
3. Unconjugated bilurubin elevated to 5.
4. Recent febrile period.
PRIMARY DIAGNOSIS:
Portal hypertension- driven hypersplenism.
QUERY:
Can intermittent bouts suggest autoimmune hemolysis?
INSIGHTS:
1. Portal hypertension - driven hypersplenism can lead to hemolysis, but autoimmune hemolytic anemia(AIHA) should be considered especially with intermittent episodes (1)
2. AIHA Can co-exist with underlying Chronic Diseases, such as portal hypertension (2).
3. Diagnostic work up for AIHA includes
° Direct antiglobulin test(DAT)
° Indirect antiglobulin tedt(IAT)
° Reticulocyte count.
° Lactate dehydrogenase (LDH) levels.
4. Differentiating features between hypersplenism and AIHA:
° Hypersplenism: typically steady gradual hemolysis.
° AIHA : episodic, unpredictable hemolysis.
RECOMMENDATIONS:
1. Conduct Diagnostic Tests for AIHA.
2. Review patient's medication history for potential culprits.
3. Consider corticosteroids or immuno suppressant if AIHA is confirmed.
4. Monitor hemoglobin, bilurubin, and LDH levels closely.
REFERENCES:
1. Mohan Das et.aI (2017).
Autoimmune hemolytic anemia:
A review Journal of Clinical and Translational Research, 3(2), 53 - 63.
2. Giannakoulas et.aI. (2018).
Autoimmune hemolytic anemia in patients with chronic liver disease.
Annals of Hematology 97(11), 2121 - 2131
06-11-2024
PPM 2 - What's the current working diagnosis for short stature and possible LVH?
PPM 1 - Chronic anemia due to hypersplenism causing delayed puberty. His current hemolysis perhaps intermittent, will need to retrieve his earlier EMRs from @PPM4 could be due to intermittent splenic sequestration due to currently un-understood mechanisms.
07-11-2024
PPM 1 - 19M with growth retardation admitted with features of suspected acute chronic hemolysis other than his previous diagnosis of portal hypertension causing hypersplenism (portal vein diameter 15mm dilated, splenic vein dilated and epigastric collateral) was given 1U of prbc yesterday following which developed abdominal pain.
Can anyone go through this and help us to interpret in our patient's context?
09-11-2024
PPM 2 - Assuming a full pituitary work up was done? Sorry I can't find it anywhere. Will share today @PPM4?
10-11-2024
PPM 4 - Pituitary work up was not done sir as he is on steroids.
PPM 2 - Thanks will review some literature on work arounds in such cases.
PPM 1 - 👍. Please share what basic pituitary work up you had in mind.
PPM 2 - Well we start with a hormone profile and a dedicated MRI of the pituitary.
PPM 1 - 👍
PPM 4 - MRI Brain was done and pituitary is normal sir.
PPM 1 - 👍 Share those notes images for case report archival.
The priority questions in this current patient to decide the next steps would be:
What are the evidences necessary for our current diagnostic hypothesis of it's being a portal hypertension with hypersplenism and intermittent splenic sequestration hemolysis and associated delayed puberty, growth retardation?
What evidence do we currently have from the patient's body and from the literature?
PPM 4 -
EMR SUMMARY
Age/Gender - 18yrs/ Male
Address-
Discharge type - Relieved
Admission Date - 20-09-2021
Time - 3.55pm
DIAGNOSIS
Fever with Pancytopenia under evaluation
(?A Leukemic Leukemia)
Patient requires Bone marrow.
Aspiration/Biopsy- with Cervical Lymphadenopathy- Mild splenomegaly.
2 SDP transfusion done.
TREATMENT GIVEN(ENTER ONLY GENERIC NAME)
DAY 1
1. Intravenous fluids (RL,NS,DNS)
2. Inj.Pantop 20mg IV/OD 8am
3. Inj.Ceffriaxone 1gm IV/BD
4. Tab.Dolo 500mg 1/2 tab(SOS)
5. Zytee Gel for L/A
6. Tab.Doxy 100mg PO/OD
DAY 2
1. Intravenous fluids (RL,NS,DNS)
2. Inj.Pantop 20mg IV/OD 8am
3. Inj.Ceffriaxone 1gm IV/BD
4. Tab.Dolo 500mg 1/2 (SOS)
5. Zytee Gel for LA
6. Tab.Doxy 100mg PO/BD
ADVICE AT DISCHARGE
Refer to higher center I/V/O bone marrow biopsy and suspicion of malignancy.
WHEN TO OBTAIN URGENT CARE
In case of emergency immediately contact your consultant Doctor or attend emergency department.
PREVENTIVE CARE
Avoid self medication without doctor's advice. Do not miss medication. In case of emergency or to speak to your treating faculty or for appointments please contact. For treatment enquiries.
PATIENT/ATTENDER DECLARATION
The medicines prescribed and the advice regarding Preventive aspects of care., when and how to obtain urgent care have been explained to me in my own language.
SIGNATURE OF PATIENT/ATTENDER
SIGNATURE OF PG/INTERNEE
SIGNATURE OF FACULTY.
DISCHARGE DATE 22-09-2021
WARD - ICU
UNIT - GM1
March 15, 2024 second admission
Age/Gender : 19 Years/Male
Address :
Discharge Type: Relieved
Admission Date: 15/03/2024 05:18 PM
Diagnosis
PANCYTOPENIA UNDER EVALUATION SECONDARY TO HYPERSPLENISM, ?AUTOIMMUNE,
?PANPITUITARISM
K/C/O HYPOTHYROIDISM SINCE 3 MONTHS
Case History and Clinical Findings
19 YEAR OLD MALE STUDENT BY OCCUPATION,RESIDENT OF NARKETPALLY CAME WITH COMPLAINTS OF ECCHYMOTIC PATCH ON LEFT GROIN SINCE 3 DAYS.
PATIENT WAS APPARENTLY Asymptomatic 3 DAYS AGO THEN HE DEVELOPED ECCHYMOTIC PATCH OVER LEFT GROIN (8 X 6 CM) INSIDIOUS,GRADUALLY PROGRESSIVE. PATIENT IS K/C/O SMALL STATURE WITH SLURRING OF SPEECH SINCE CHILDHOOD.
H/O PANCYTOPENIA SINCE 11 YEARS OF AGE ,IS ON REGULAR FOLLOW UP ON ROUTINE EVALUATION,HE WENT TO YASHODA HOSPITAL AND FOUND PCT-15,000,HENCE THEY CAME HERE FOR FURTHER EVALUATION AND MANAGEMENT.
H/O FEVER PRESENT 3 DAYS BACK NOW SUBSIDED. NO H/O COUGH AND COLD.
NO H/O CHEST PAIN,PALPITATIONS,BREATHLESSNESS,ORTHOPNEA,PND. K/C/O HYPOTHYROIDISM SINCE 3 MONTHS ON T.THYRONORM 50 MCG.
NO H/O DM,HTN,ASTHMA,TB,EPILEPSY,CVA,CAD,CKD,CLD. PAST H/O BLOOD TRANSFUSIONS 2 TIMES IN LAST 3 YEARS.
TREATMENT HISTORY:
BLOOD TRANSFUSION- 2 TIMES IN LAST 3 YEARS. OTHER- HYPOTHYROIDISM,SMALL STATURE.
PERSONAL HISTORY:
SINGLE
OCCUPATION- STUDENT APPETITE- NORMAL DIET- MIXED
BOWEL AND BLADDER- REGULAR KNOWN ALLERGIES- NO ADDICTIONS- NO
FAMILY HISTORY:
NO SIGNIFICANT FAMILY HISTORY.
ON EXAMINATION:
PATIENT IS CONCIOUS,COHERENT AND COOPERATIVE. PALLOR- PRESENT
ICTERUS- NO
COURSE IN HOSPITAL-
PATIENT CAME WITH COMPLAINTS OF ECCHYMOTIC PATCH ON LEFT GROIN SINCE 3 DAYS. ON INVESTIGATION HAEMOGRAM SHOWED HB-9.9,TLC-3,800, N/L/E/M/B-65/25/1/9/0, PCV- 30.1, MCV-84.1, MCH-27.7, MCHC-32.9, RBC-3.58, PLATELETS-6000, SMEAR-NORMOCYTIC NORMOCHRONIC ANEMIA WITH MILD LEUKOPENIA AND SEVERE THROMBOCYTOPENIA. ONE UNIT OF SDP WAS TRANSFUSED ON 15/3/24 AND SAMPLE WAS SENT FOR ELECTROPHORESIS, ANA PROFILE. PLATELETS COUNT WAS 4000 WHEN ONE UNIT OF PRP WAS TRANSFUSED ON 19/3/24. KARYOTYPING SAMPLE WAS SENT, AWAITING FOR REPORTS.
Investigation
COMPLETE URINE EXAMINATION (CUE) 15-03-2024 06:26:PM
COLOUR Pale yellow APPEARANCE Clear
REACTION Acidic SP.GRAVITY 1.010 ALBUMIN + SUGAR Nil
BILE SALTS Nil BILE PIGMENTS Nil PUS CELLS 3-4
EPITHELIAL CELLS 2-3 RED BLOOD CELLS Nil CRYSTALS Nil
CASTS Nil
AMORPHOUS DEPOSITS Absent OTHERS Nil
PERIPHERAL SMEAR 15-03-2024 06:26:PM RBC : Normocytic normochromic WBC : Count Slightly Decreased on smear PLATELET : Inadequate
HBsAg-RAPID 15-03-2024 06:26:PM Negative
LIVER FUNCTION TEST (LFT) 15-03-2024 06:26:PM
Total Bilurubin 1.13 mg/dl 1-0 mg/dl
Direct Bilurubin 0.25 mg/dl 0.2-0.0 mg/dl
SGOT(AST) 23 IU/L 35-0 IU/L
SGPT(ALT) 11 IU/L 45-0 IU/L
ALKALINE PHOSPHATASE 132 IU/L 369-54 IU/L
TOTAL PROTEINS 6.4 gm/dl 8.3-6.4 gm/dl
ALBUMIN 3.7 gm/dl 5.2-3.5 gm/dl
A/G RATIO 1.41
RFT 15-03-2024 06:26:PM
UREA 15 mg/dl 42-12 mg/dl
CREATININE 0.6 mg/dl 1.3-0.9 mg/dl
URIC ACID 2.0 mmol/L 7.2-3.5 mmol/L
CALCIUM 10.0 mg/dl 10.2-8.6 mg/dl
PHOSPHOROUS 2.4 mg/dl 4.5-2.5 mg/dl
SODIUM 138 mmol/L 145-136 mmol/L
POTASSIUM 3.0 mmol/L. 5.1-3.5 mmol/L.
CHLORIDE 101 mmol/L 98-107 mmol/L
T3, T4, TSH 15-03-2024 06:28:PM
T3 0.79 ng/ml 1.87-0.87 ng/ml
T4 11.41 micro g/dl 12.23-6.32 micro g/dl TSH 5.44 micro Iu/ml 5.36-0.34 micro Iu/ml
ULTRASOUND B/L INGUINOSCROTAL REGION: (16/03/2024) FINDINGS-
-RIGHT TESTIS: 15 X 7 X 10 MM NORMAL ECHOTEXTURE
-LEFT TESTIS: 13 X 5 X 9 MM NORMAL ECHOTEXTURE
-E/O FEW PROMINENT LYMPHNODES NOTED IN RIGHT INGUINAL REGION WITH LARGEST 6- 7 MM OVER RIGHT SIDE WITH OVOID SHAPE.
-B/L SPERMATIC CORD AND EPIDIDYMIS APPEARS NORMAL. IMPRESSION-
-B/L SMALL TESTIS.
-PROMINENT INGUINAL LYMPH NODES OVER RIGHT SIDE.
HAEMOGRAM DONE ON 15/3/24 HB-9.9
TLC-3,800
N/L/E/M/B-65/25/1/9/0 PCV-30.1
MCV-84.1 MCH-27.7 MCHC-32.9 RBC-3.58
PLATELETS-6000
SMEAR-NORMOCYTIC NORMOCHRONIC ANEMIA WITH MILD LEUKOPENIA AND SEVERE THROMBOCYTOPENIA
2-D ECHO: (16/03/24)
-NO MR/AR/TR.
-NO RWMA.
-GOOD LV SYSTOLIC FUNCTION.
-NO DIASTOLIC DYSFUNCTION.
-NO PE/CLOTS.
HAEMOGRAM DONE ON 16/3/24 HB-9.1
TLC-3,800
N/L/E/M/B-57/31/2/10/0 PCV-27.9
MCV-83.6 MCH-27.2 MCHC-32.6 RBC-3.33
PLATELETS-6000
SMEAR-NORMOCYTIC NORMOCHRONIC ANEMIA WITH MILD LEUCOPENIA AND SEVERE THROMBOCYTOPENIA
HAEMOGRAM DONE ON 17/3/24 HB-9.4
TLC-4,000
N/L/E/M/B-62/25/4/9/0 PCV-28.8
MCV-83.4 MCH-27.3 MCHC-32.7 RBC-3.45
PLATELETS-6000
SMEAR-NORMOCYTIC NORMOCHRONIC ANEMIA WITH SEVERE THROMBOCYTOPENIA
HAEMOGRAM DONE ON 18/3/24 HB-9.5
TLC-4,400
N/L/E/M/B-80/16/0/4/0 PCV-29.3
MCV-82.8 MCH-26.9 MCHC-32.5 RBC-3.54
PLATELETS-4000
SMEAR-NORMOCYTIC NORMOCHRONIC ANEMIA WITH SEVERE THROMBOCYTOPENIA
HAEMOGRAM DONE ON 19/3/24 HB-9.1
TLC-6,800
N/L/E/M/B-74/18/1/7/0 PCV-27.2
MCV-80.7 MCH-27.2 MCHC-33.6 RBC-3.37
PLATELETS-4000
SMEAR-NORMOCYTIC NORMOCHRONIC ANEMIA WITH SEVERE THROMBOCYTOPENIA
HAEMOGRAM DONE ON 20/3/24 HB-9.3
TLC-6,200
N/L/E/M/B-80/15/0/5/0 PCV-28.2
MCV-82.7 MCH-27.2 MCHC-32.9 RBC-3.41
PLATELETS-10000
SMEAR-NORMOCYTIC NORMOCHRONIC ANEMIA WITH THROMBOCYTOPENIA USG NECK :
IMPRESSION :PROMINENT CERVICAL LYMPH NODES USG ABDOMEN:
SPLEEN -15 CM INCREASED IN SIZE AND ALTERED ECHOTEXTURE SPLEENIC VEIN DIAMETER 10MM DILATED
PV:15MM DILATED
E/O FEW COLLATERALS NOTED IN EPIGASTRIC REGION IMPRESSION:MILD SPLEENOMEGALY
GRADE 1 RPD CHANGES IN RIGHT KIDNEY
Treatment Given(Enter only Generic Name)
1. TAB.THYRONORM 50 MCG PO/OD
2. TAB.DOLO 650 MG PO/SOS
Advice at Discharge
TAB. THYRONORM 50MCG PO/OD TAB.PREDNISILONE 20MG PO/OD X 1WEEK
Follow Up
REVIEW TO GENERAL MEDICINE OP AFTER ONE WEEK WITH HAEMOGRAM AND KARYOTYPING
When to Obtain Urgent Care
IN CASE OF ANY EMERGENCY IMMEDIATELY CONTACT YOUR CONSULTANT DOCTOR OR ATTEND EMERGENCY DEPARTMENT.
Preventive Care
AVOID SELF MEDICATION WITHOUT DOCTORS ADVICE,DONOT MISS MEDICATIONS. In case
of Emergency or to speak to your treating FACULTY or For Appointments, Please Contact: For Treatment Enquiries Patient/Attendent Declaration : - The medicines prescribed and the advice regarding preventive aspects of care ,when and how to obtain urgent care have been explained to me in my own language
SIGNATURE OF PATIENT /ATTENDER SIGNATURE OF PG/INTERNEE SIGNATURE OF ADMINISTRATOR SIGNATURE OF FACULTY
Discharge Date Date: 20/03/2024 Ward: AMC Unit:5
Age/Gender : 19 Years/Male
Address :
Discharge Type: Relieved
Admission Date: 04/11/2024 03:04 PM
Diagnosis
AUTO IMMUNE HEMOLYTIC ANAEMIA
PANCYTOPENIA SECONDARY TO HYPERSPLENISM WITH HYPOGONADISM K/C/O HYPOTHYROIDISM
? DIGEORGE SYNDROME
Case History and Clinical Findings
Chief COMPLAINTS :
C/O LOSS OF APPETITE SINCE 1 WEEK HISTORY OF PRESENTING ILLNESS
PATIENT WAS APPARENTLY ASYMPTOMATIC 10 DAYS BACK AND THEN HE DEVELOPED LOSS OF APPETITE SINCE 1 WEEK. NO H/O WEIGHT LOSS, BURNING SENSATION IN EPIGASTRIC REGION. H/O FEVER 10 DAYS BACK AND NOW RESOLVED.
N/H/O FEVER,COLD, COUGH, ALLERGIES, CHEST PAIN,PALPITATIONS, SWEATING, SOB, ABDOMINAL PAIN, NAUSEA, VOMIINGS.
PAST HISTORY :
H/O FEVER 1 WEEK BACK. SUBSIDED BY TAKING MEDICATION.
K/C/O PAN PITUITARISM WITH PANCYTOPENIA SECONDARY TO HYPERSPLENISM . K/C/O HYPOTHYROIDISM
GENERAL EXAMINATION
PATIENT IS C/C/C. PALLOR PRESENT .NO ICTERUS, CLUBBING, CYANOSIS, LYMPHEDENOPATHY, EDEMA.
BP: 100/80 MMHG
PR: 80 BPM
RR: 18 CPM
SPO2: 98 %
SYSTEMIC EXAMINATION:
CVS: S1S2 + , NO MURMURS M - NO MURMURS
T- NO MURMURS A- NO MURMURS P- NO MURMURS
RS: BLAE + NVBS HEARD , NO ADDED BREATH SOUNDS P/A: SOFT, NON TENDER,
HEPATOMEGALY ABSENT SPLEENOMEGALY PRESENT
CNS: CONSCIOUS, COHERENT, CO OPERATIVE, ORIENTED TO TIME, PLACE, PERSON. CRANIAL NERVES- NORMAL
TONE RIGHT LEFT UL N N
LL N N POWER UL 5/5 5/5 LL 5/5 5/5 REFLEXES B +2 +2
T +1 +1
S +1 +1
K +2 +2 A + +
P F F
OPHTHALMOLOGY REFFERAL DONE ON 7/11/24 I/V/O LEFT OPTIC ATROPHY (OUTSIDE THE HOSPITAL)
IMPRESSION :
LEFT EYE OPTIC ATROPHY
? PITUTARY DISEASE (HYPOPITUTARISM)
COURSE IN THE HOSPITAL :
19 YEAR OLD BOY WITH SHOFT NECK AND B/L LOW SET EARS UPSLANTING PALPEBRAL FISSURE + HYPERTELORISM, WIDE SPACED TEETH CAME TO OPD WITH ABOVE MENTIONED COMNPLAINTS AND FOUND TO HAVE PANCYTOPENIA. HE WAS ON STEROIDS SINCE 4 YEARS NOW STOPPED SINCE ? 1 MONTH. SO PATIENT WAS STARTED ON TAB PREDINSOLONE 30MG PO/OD. 1 PRBC TRANSFUSION WAS DONE ON 06/11/24.
OPHTHALMOLOGY REFFERAL WAS DONE ON 7/11/24. PATIENT WAS FOUND TO HAVE LEFT EYE OPTIC ATROPHY, RIGHT EYE MILD CHL LEFT MODERATE MIXED HL. ? PITUTARY DISEASE (HYPOPITUTARISM).
MRI BRAIN WAS DONE ON 5/8/24
OBSERVATIONS: SELLA, PITUTARY AND PARASELLAR REGIONS ARE NORMAL. IMPRESSION: T2/FLAIR HYPERINTENSITIES IN B/L GLOBUS PALLIDI - MOST LIKELY INCIDENTAL FINDING. HOWEVER FOLLOW UP SCANS ARE SUGGESTED.
BONE MARROW ASPIRATION ON 16/7/24:
IMPRESSIONS: PERIPHERAL BLOOD AND MARROW CYTOLOGY FEATURES ARE CONSISTENT WITH NORMOCELLULAR MARROW WITH ERYTHROID HYPERPLASIA WITH MEGALOBLASTOID ERYTHROPOESIS. SUGGESTED COORELATION WITH SERUM B12 AND FOLIC ACID LEVELS.
BONE MARROW ASPIRATION IN 2023:
IMPRESSION : ERYTHROPOETIC WITH ADEQUATE IRON STORES. GRANULOPOESIS WITH NORMAL MORPHOLOGY. INCREASED MEGAKARYOCYTES. M:E 3:1
ANA PROFILE WAS DONE WHICH WAS NEGATIVE
GENETIC STUDY WAS DONE -CNV PROBABLE HETEROZYGOUS PATHOGENIC DELETION ON CHROMOSOME 22q11.2DS. SNV- HETEROZYGOUS VARIANT OF UNCERTAIN SIGNIFICANCE (VUS) DETECTED.
HB ELECTROPHORESIS WAS DONE WHICH WAS NORMAL. KARYOTYPE 46 XY -NORMAL MALE KARYOTYPE
OSMOTIC FRAGILITY DONE ON 5/4/24 - INCREASED FRAGILITY XRAY BONE AGE - <13 YEARS.
DEVELOPMENTAL HISTORY :SECOND BORN TO NON CONSANGUINOUS MARRIAGE. BIRTH WEIGHT WAS 1.5 KGS. DEVELOPLENTAL DELAY PRESENT. TILL 12 - 13 YEARS OF AGE HEIGHT SIMILAR TO PEERS. AFTER THAT MOTHER NOTICED POOR GROWTH. SINCE 4 YEARS PANCYTOPENIA &HYPERSPLENISM. ON ?WYSOLONE 10MG. SINCE 1 YEAR DIAGNOSED AS HYPOTHYROIDISM ON THYRONORM 50MCG.
Investigation
LDH 354 IU/L
SERUM IRON 30 ug/dl HEMOGRAM
HAEMOGLOBIN 3.3 gm/dl 13.0 - 17.0 TOTAL COUNT 2,600 cells/cumm 4000 - 10000
NEUTROPHILS 70 % 40 - 80 LYMPHOCYTES 28 % 20 - 40 EOSINOPHILS 00 % 01 - 06
MONOCYTES 02 % 02 - 10BASOPHILS 00 % 0 - 2 PCV 10.3 vol % 40 - 50 M C V 96.3 fl 83 - 101 M
C H 30.8 pg 27 - 32 M C H C 32.0 % 31.5 - 34.5 RDW-CV 20.6 % 11.6 - 14.0RDW-SD 48.5 fl 39.0-
46.0 RBC COUNT 1.07 millions/cumm 4.5 - 5.5 PLATELET COUNT 1.0 lakhs/cu.mm 1.5- 4.1SMEARRBC anisocytosis with predomiantlymicrocytes , few normocytes , pencilformsWBC decreased counts on smear PLATELETS decreased counts on smear HEMOPARASITES No hemoparasites seen IMPRESSION pancytopenia
REPEAT HEMOGRAM :
HAEMOGLOBIN 5.7 gm/dl 13.0 - 17.0 ColorimetricTOTAL COUNT 3,600 cells/cumm 4000 - 10000
ImpedenceNEUTROPHILS 58 % 40 - 80 Light MicroscopyLYMPHOCYTES 34 % 20 - 40 Light
MicroscopyEOSINOPHILS 00 % 01 - 06 Light MicroscopyMONOCYTES 08 % 02 - 10 Light
MicroscopyBASOPHILS 00 % 0 - 2 Light MicroscopyPCV 18.2 vol % 40 - 50 CalculationM C V 104.0
fl 83 - 101 CalculationM C H 32.6 pg 27 - 32 CalculationM C H C 31.3 % 31.5 - 34.5 CalculationRDW-
CV 20.9 % 11.6 - 14.0 HistogramRDW-SD 58.8 fl 39.0-46.0 HistogramRBC COUNT 1.75
millions/cumm 4.5 - 5.5 ImpedencePLATELET COUNT 1.2 lakhs/cu.mm 1.5-4.1 Impedence
SMEAR
RBC Anisocytosis with microcytes ,macrocytes , macro ovalocytes
,normocytesLight MicroscopyWBC decreased counts on smear Light MicroscopyPLATELETS decreased counts on smear Light MicroscopyHEMOPARASITES No hemoparasites seen Light MicroscopyIMPRESSION pancytopenia
LFT
Total Bilurubin 2.20 mg/dl Direct Bilurubin 0.41 mg/dl SGOT(AST) 17 IU/LSGPT(ALT) 14 IU/L ALKALINE PHOSPHATASE 108 IU/LTOTAL PROTEINS 6.7 gm/dl ALBUMIN 3.7 gm/dl A/G RATIO 1.29
COOMB'S TEST - ICT, DCT - NEGATIVE.
BLOOD GROUPING AND RH TYPE : O POSITIVE STOOL FOR OCCULT BLOOD : NEGATIVE ULTRASOUND DONE ON 4/11/24 FINDINGS/IMPRESSION
1. E/O HYPERECHOIC FOCI NOTED IN CONTRACTED GALL BLADDER - REVIEW IN FASTING STATE FOR GB PATHOLOGY
2. SPLENOMEGALY
REVIEW USG I/V/O SPLENOMEGALY ON 7/11/24
1. IVC SIZE : 1.0 CM
2. SPLEEN- 17-18 CM INCREASED SIZE, NORMAL ECHOTEXTURE - SPLEENOMEGALY 2D ECHO DONE ON 7/11/24
IVC SIZE (0.9 CMS) COLLAPSING CONCLUSION:
- MILD TR + WITH PAH; MILD AR+; TRIVIAL MR+/PR+
- NO RWMA. NO AS/MS; NO ASD/VSD
- GOOD LV SYSTOLIC FUNCTIONS
- NO DIASTOLIC DYSFUCNTIONS; NO PE/LV CLOT
Treatment Given(Enter only Generic Name)
1. TAB FOLIC ACID 5MG PO/OD X 1 WEEK
2. TAB THYRONORM 50MG PO/OD X 1 WEEK
3. TAB UDILIV 150 MG PO/ OD X 1 WEEK
4. TAB PREDNISOLONE 30MG PO/OD X 1 WEEK
Advice at Discharge
1. TAB FOLIC ACID 5MG PO/OD
2. TAB THYRONORM 50MG PO/OD
3. TAB UDILIV 150 MG PO/ OD
4. TAB PREDNISOLONE 30MG PO/OD TESTS -
S. FSH, LH
S. PROLACTIN
S TESTOSTERONE
S. CORTISOL IGF-1
CBP, LFT
ENDOSCOPY TO RULE OUT PORTAL HYPERTENSION
Follow Up
REVIEW IN MEDICINE OPD AFTER 1 WEEK WITH HEMOGRAM . PLAN TO TAPER TAB PREDNISOLONE.
When to Obtain Urgent Care
IN CASE OF ANY EMERGENCY IMMEDIATELY CONTACT YOUR CONSULTANT DOCTOR OR ATTEND EMERGENCY DEPARTMENT.
Preventive Care
AVOID SELF MEDICATION WITHOUT DOCTORS ADVICE,DONOT MISS MEDICATIONS. In case
of Emergency or to speak to your treating FACULTY or For Appointments, Please Contact:For Treatment Enquiries Patient/Attendent Declaration : - The medicines prescribed and the advice regarding preventive aspects of care ,when and how to obtain urgent care have been explained to me in my own language
SIGNATURE OF PATIENT /ATTENDER
SIGNATURE OF PG/INTERNEE
SIGNATURE OF ADMINISTRATOR
SIGNATURE OF FACULTY
Discharge Date Date: 9/11/24 Ward: MMW Unit:I
22-11-2024
PPM 1 - OPD review milestone!
First upper GI endoscopy in this patient of genetic q deletion and hypersplenism anemia with no other features of portal hypertension. Today's upper GI endoscopy shows no evidence of varices.
His presumed pituitary dwarfism is likely much more complex than that and includes anemia due to hypersplenism which in turn could be a part of his q deletion syndrome.
07-12-2024
PPM 3 -
Can you review some literature around splenic sequestration crisis precipitating this?
PPM 4 - 👍
13-12-2024
PPM 1 - We reviewed this patient just now in the OPD.
We had a discussion with the endocrinologist here who agreed his pituitary dwarf and lack of sexual maturity is likely due to his chronic anemia but he couldn't put it on paper and shared some standard tests for evaluation of his HPA axis and @~Navya can share the deidentified version of that here for you to update further. We also thought of documenting the reason for his nasal speech since childhood, and he appears to have marked palatal muscle weakness as you may notice in this attached image in comparison to the normal appearance that we also captured in his uncle.
This is his uncle's normal palate. Because the patient's uvula was not pulled up into visibility while opening his mouth his mother attributes his nasal speech to an undeveloped uvula but we educated her that his uvula is perfectly normal and it's his palatal weakness is the actual culprit for his nasal speech!
Now overall for this patient, we probably may have this new syndrome (let's call it @PPM4s syn for the time being as she's currently running around gathering all the data around him) with q deletion (genomic data in the case report link), chronic hemolytic anemia and hypersplenism with short stature and nil sexual maturity along with palatal palsy since childhood.
28-12-2024
PPM 1 - Pancytopenia with Splenomegaly case admitted for splenectomy sir.
PPM 1 - Will need to change his age in the group to 20.
PPM 1 - Thanks for sharing @PPM3
PPM 4 - Any vaccines indicated here?
PPM 1 - Yes good point
PPM 4 - 😮
Surely it's in the pre splenectomy protocol
@PPM3 please share the immunization planned pre op.
PPM 3 - Already given sir 10days back.
PPM 1 - Which vaccine?
PPM 4 - Pneumococcal?
Any others indicated?
PPM 1 - Share an evidence based link.
PPM 1 - The unbearable lightness of being (ina lower center)!
PPM 4 - 😮
PPM 5 - Why was that decision taken?
PPM 4 - 👍
PPM 1 -
Because of the unbearable lightness of being (in a lower center) and a scare of what happens when we take up more interventions!
This is a scary link for all doctors shared by one of our doctor in our other group today 👇
https://www.researchgate.net/publication/387471473_Applicability_of_Doctrine_of_Res_Ipsa_Loquitur_Lack_of_Informed_Consent_Pre-Operative_Investigations_Two_Neurosurgeons_held_Liable_for_Medical_Negligence_Hospital_and_Medical_Superintendent_Exonerated
PPM 4 - Is high risk consent and consent for transfusion also taken?
With video recording?
01-01-2025
PPM 1 - @PPM5 @PPM3 please contact the patient's relative here and tell them I've spoken to the HOD of Pediatric Surgery in Gandhi Medical College and he has agreed to do the operation. Just ask them to go and meet him there.
PPM 3 - Ok
PPM 5 - Ok sir.
PPM 1 - Message from Gandhi Pediatric Surgery HOD:
No problem. If they r coming tomorrow, they can see me in ward. Our OPD is on Monday/ Wednesday/ Friday. If they come tomorrow OPD they should take Paed surgery OPD telling them that they are follow up case -64 no OPD.
03-01-2025
PPM 1 - Can the patient's relative meet me in the OPD today.
Prof Nagarjuna phoned me from Gandhi saying that we could even get a splenic uptake scan rerouted from Gandhi to check if his intermittent hemolysis is indeed due to sequestration and if he would really benefit from splenectomy.
PPM 3 - Yes sir
Informed him
He is coming to OPD now.
PPM 1 - 👍
17-01-2025
PPM 1 - Another similar 20M hypersplenism patient's RBC splenic scintigraphy reviewed before taking him up for his planned splenectomy.
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