Dr.Rithwik Sunil, Dr Rema(Paed haemato)Dr. C Jayakumar
Two year old female child presented with bleeding from the left nostril and 2 episode of vomiting containing frank blood.
She was drowsy and was admitted in PICU. In view of persistent drowsiness she was electively intubated. Investigations doneout side hospital showed Hemoglobin – 4 with Platelets of 90,000.
She was given 2 PRBC and FFP transfusion and was referred to AIMS for further investigations and management.
No history of trauma, bleeding gums, fever with rash , cough, breathlessness, abdominal pain, abdominal distension, headache , blood in stools , joint pain or joint swelling.
Two months back , she was found to have exaggerated bleeding following mosquito bite for which she was evaluated outside and found to have PLT- 30,000K/uL.She was given herbals and repeated platelet counts every third week. Platelet prior to onset of symptoms was90,000/cmm
Perinatal, natal, development and immunisation history were normal
No family history of bleeding disorder/ malignancy in the family.
CLINICAL EXAMINATION :
On arrival, Intubated On pressure regulated volume control (PRVC )mode , FiO2- 40% ,
PEEP- 5
RR- 25/min , SpO2- 97% in PRVC mode Tidal volume – 80ml
S/E:
Chest: Clear , AEBE
CVS: S1 and S2+ , no murmurs GI: Soft ,BS + , no organomegaly CNS : No FND
Differentials considered
ITP
Hemophilia
Glanzmann thrombocytopenia
Vitamin K deficiency
Haematological malignancy
Investigations
TC:10.79
N:72%
L:23%
HB:7.6g/dl
Platelets:87,000
RBC Indices: normal
Factor X111 : 117%
CT brain plain- No acute intra parenchymal / extra axial bleed.
*ANA IFA – negative.
*Dengue IgG- positive
*Dengue IgM- negative
*Dengue NS1- negative
RFT/LFT/ PT-INR/APTT were normal.
Pre-op serology was negative
DCT was negative. Complement levels were normal.
Screening Bleeding Panel 1 with vwF Antigen was done which was normal.
Platelet function test(platelet aggregometry ) was suggestive of platelet function disorder
Peripheral smear showed normocytic normochromic anemia with neutrophilic leucocytosis with thrombocytopenia
Child is under follow up
Course
She was received in PICU intubated. She was on PRVC mode with FiO2 of 40%. Blood gas at admission showed pH- 7.275, PCO2- 65.9 , PO2- 104 , HCO3- 29.6 , Lactate- 0.5 , Hb- 9.. Initial labs showed neutrophilic leucocytosis with mildly elevated CRP – 8.75 mg/L. Hemoglobin was 9g/dl with platelets of 85K/CT brain plain was done in view of epistaxis and it was normal. She was weaned off from ventilator after 4 days of PICU stay and then shifted to HDU. Whole exome sequencing was sent
NGS confirmed Bernard Soulier Syndrome(Autosomal recessive varient)
Child was kept under clinical hematology follow up and was advised routine blood works and transfusions as and when required
Bernard Soulier
Bernard-Soulier syndrome (BSS) is caused pathogenic variants in GP9, GP1BA. These genes encode components of the GPIb/IX complex, which serves as one of the platelet receptors for von Willebrand factor (VWF). BSS platelets have reduced adherence to VWF at sites of vascular injury (but they can still adhere via integrin alphaIIbbeta3).
Transmission is usually autosomal recessive, but autosomal dominant forms also exist.
BSS generally presents with a bleeding phenotype with mild to moderate thrombocytopenia and large platelets. The bleeding phenotype is highly variable from mild to severe . There are no other syndromic features. The diagnosis can be made platelet aggregometry. BSS platelets do not agglutinate or aggregate in response to ristocetin
Take home message
One of the major differences between bleeding disorders and other causes of thrombocytopenia is that in bleeding disorders, the tendency to show bleeding manifestations is much earlier and is present at even moderate thrombocytopenia
In Bernard Souliers, the peripheral smear usually shows giant platelet cells.
This is can also lead to erroneous machine reading and must always be verified a Peripheral smear.