ABSTRACT
De Barsy et al first reported a rare cutaneo-oculo-cerebral malformation-syndrome now commonly referred as ‘progerioid syndrome of de Barsy’. It is the constellation of progeria-like appearance, cutis laxa, intrauterine growth retardation, corneal clouding and hypotonia. We report a case of Debarsy syndrome in a neonate presented at birth with typical clinical features with hypocalcemic seizures. There are no previous reports among Afghani origin and also first case reported from United Arab Emirates, there have been no reported cases of hypocalcemic seizures.
ABSTRACT
The clinical features of 14 infants diagnosed with late hemorrhagic disease of newborn (LHDN), of which 10 did not receive vitamin K prophylaxis, are presented. All infants were exclusively breast-fed and 12 did not have any underlying illness to explain the abnormal coagulation profile. The common presenting symptoms were seizures (71%), vomiting (57%), poor feeding (50%) and altered sensorium (36%). Physical examination shared pallor in all infants and a bulging anterior fontanel in 64%. Intracranial bleed was the predominant manifestation (93%), with CT scan showing intracranial bleed in 78%. Eight infants (57%) succumbed to their illness, while 36%had neurological sequelae. Since LHDN leads to significant morbidity and mortality, it should be prevented by providing vitamin K prophylaxis to all newborns.