McKusick-kaufman syndrome: a rare case report with review of literature

Hydrometrocolpos [HMC], postaxial polydactyly [PAP] and congenital heart disease [CHD] are well documented features of the McKusick Kaufman Syndrome [MKKS]. This is a rare autosomal recessive disease which may be associated with other multiple malformations. MKKS is an extremely rare cause of non-immune hydrops with only one case reported in the literature. We report the first case of MKKS in Kuwait who presented with non-immune hydrops

Streptococcus pneumoniae as a cause of early onset neonatal sepsis: first report from Kuwait

Streptococcus pneumoniae is a rarely recognized cause of neonatal sepsis. We present a case of S. pneumoniae bacteremia that developed on the second day of life in a neonate born at 38 weeks of gestation to a mother who had prolonged rupture of the membranes [19 hours]. The isolate was penicillin sensitive. The child responded to a 14 day course of antibiotics. S. pneumoniae was isolated from the vagina of the mother by a swab culture collected prior to delivery, and isolates from the mother and the baby had the same sensitivity patterns. This case expands the spectrum of organisms responsible for early onset neonatal sepsis in Kuwait. To our knowledge, such an incident was not previously reported from Kuwait

3C syndrome [cranio-cerebello-cardiac dysplasia] or ritscher schinzel syndrome: a rare case report with review of literature

A very rare case of 3C [cranio-cerebello-cardiac] inheritance of this condition due to consanguinity syndrome is reported for the first time in an Arab infant between the parents. Need of antenatal diagnosis and from Kuwait. The diagnostic features and differential genetic counseling is highlighted for this prognostically diagnosis is discussed. We support the autosomal recessive poor condition.

Neonatal bartter syndrome with early hyperkalemia: An unusual presentation in twins

A rare case of neonatal Bartter syndrome with atypical onset of early hyperkalemia is reported in a pair of dizygotic twins born at 25 weeks gestation to a Syrian mother. The first twin died with severe hyperkalemia at five days of age and the second survived with failure to thrive and developmental retardation. This is probably the first case reported from Kuwait. The case is discussed and relevant literature has been reviewed