Attenuation of phenotypical expression of severe hemophilia A in presence of simultaneous prothrombotic Factor V mutation: The debate continues.

The effect of coexistence of the prothrombotic Factor V Leiden mutation on the phenotypical expression in hemophilia is still debatable. Six-year-old boy with severe hemophilia A had presented with large soft tissue hematoma, treated with Factor VIII concentrate. Simultaneous Factor V Leiden mutation had resulted in attenuation of clinical features.

Reactive haemophagocytic lymphohistiocytosis.

We present a series of five cases diagnosed and treated as reactive haemophagocytic lymphohistiocytosis (HLH) in three tertiary referral centers of Kolkata, within a time frame of 3 months. The initial presentations were very variable, the most prominent clinical feature being--acute renal failure in the first patient, convulsions in the second, encephalopathy the third, marked cervical lymphadenopathy in the fourth and polyserositis in the fifth. All had a history of prolonged fever preceding admission and hepatosplenomegaly on examination. Investigations revealed multi-organ involvement with pancytopenia; haemophagocytosis was eventually diagnosed by bone marrow examination. These cases highlight the diagnostic challenge posed by infection associated haemophagocytosis and the need for maintaining a high index of suspicion to promptly diagnose and treat this potentially life threatening condition.

Wasp stings with multisystem dysfunction.

The insect order of Hymenoptera includes bees, hornets, wasps and fire-ants. Their stings are not usually life threatening, causing mainly local reactions and rarely anaphylaxis. This is a report of an 18 month old child who survived after an unusually severe envenomation, resulting in encephalopathy, hypertension, coagulopathy, intra-vascular hemolysis, hepatic and renal failure, following multiple wasp stings.

Neonatal Kawasaki disease with multiple coronary aneurysms and thrombocytopenia.

We describe an occurrence of Kawasaki disease presenting in the neonatal period with multiple coronary aneurysms. Very few such presentations of this entity have been described in the literature and this is probably the youngest patient reported from India. We also highlight an atypical finding, thrombocytopenia during the second week of life and beyond.

Difficulties in the diagnosis of Kawasaki disease.

This study aims to highlight the difficulties faced in the clinical diagnosis of Kawasaki Disease (KD) presenting beyond the first week. This is a retrospective study of 25 cases of which only 36% met the criteria for classical and 8% was incomplete KD. Majority (56%) did not meet the criteria for classical KD; at the same time they were not incomplete / atypical cases. Difficulties arise in diagnosis of the cases presenting in the second week, as by that time many of the classical findings disappear or probably have not been present at all. In this scenario high index of suspicion for KD in a child presenting with fever, looking not that sick (Non toxic look) with bulbar conjunctivitis and oral mucositis helped us to reach the diagnosis. We incidentally observed Hyperemia of the Upper Eyelids in 32% of our cases, which might assist in the diagnosis.

Nager acrofacial dysostosis: an unusual association with both upper and lower eyelid colobomas.

Nager acrofacial dysostosis comprises defects of cranio facial region and limbs (mostly upper) with variable associated anomalies. The cranio- facial complex is indistinguishable from the mandibulo facial dysostosis (Treacher Collins syndrome). About 80 cases have been described in the literature. We describe the case of a one-day-old male neonate who presented with the typical features of the disease complex. Although normal life span has been reported, our patient died on the second day due to cardio respiratory failure. We report this case because of its rarity and an unusual associated feature of bilaterally symmetrical upper and lower eyelid colobomas.