Myosin heavy chain 9-related disorders (MYH9RD) are a genetic condition characterised by large platelets and thrombocytopaenia. The May-Hegglin anomaly (MHA), an uncommon condition with a potential risk of bleeding complications once thought to be separate, is now known to be part of MYH9RD.There are very limited data on the clinical course and neonatal/paediatric outcome in children with MHA. We present the case of a newborn with a normal physical examination whose mother had MHA. Peripheral blood examination revealed a platelet count of 16×10/L with giant platelets and neutrophils containing Döhle bodies. Neonatal brain ultrasound examination showed no haemorrhage. The infant received three platelet transfusions during the first 29 days of life, remaining asymptomatic. The genetic molecular test was positive for MYH9RD. It is important to identify at-risk infants with this condition and to initiate therapy to prevent related complications, if needed, in a multidisciplinary team approach.

Objectives Massive fetomaternal hemorrhage (FMH) is a rare and difficult to diagnose event that can have catastrophic outcomes. Although many etiologies have been associated with FMH, the majority of cases are idiopathic and affect uncomplicated pregnancies. The prevailing symptom is decreased fetal movements but some cases are asymptomatic. Changes in the fetal Doppler ultrasound, a sinusoidal cardiotocographic pattern, neonatal anemia, unexplained hydrops or stillbirth can raise suspicion that such an event has occurred. Case presentation This article presents a case series of severe FMH diagnosed in our center between 2011 and 2020 as well as a review of the current available literature. Conclusions We highlight the importance of the clinician’s awareness on detecting this rare but potentially life-threatening event.