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

Esophageal perforation in neonates: a report of seven cases from Kuwait

Preterm neonates exposed to invasive procedures are at risk of esophageal perforation [EP]. We are reporting a series of seven cases of EP, which have occurred in the neonatal intensive care unit [NICU] of Farwaniya Hospital, Kuwait, over a period of nine years [1994-2002]. This gives an incidence of one in 8,118 live births and one in 278 NICU admissions. All patients were premature [below 32 weeks] and were exposed to various invasive procedures. Two cases had a tentative diagnosis of esophageal atresia at the time of presentation. Other five cases presented with a feeding tube in an ectopic position and air leak syndrome. All cases were managed conservatively. The perforations healed without any complication. The overall outcome was good as none of the mortality and morbidity was attributed to EP. Our objective in this report is to highlight the existence of this problem and emphasize the importance of its early diagnosis, management and prevention. Misdiagnosis might lead to unnecessary investigation and / or surgical intervention