Incomplete form of tuberous sclerosis (TS) may present with acute complications such as haematuria, retroperitoneal haemorrhage or pneumothorax. Such cases may pose diagnostic difficulty. A patient with incomplete form of TS without any cerebral impairment who presented as an acute surgical abdomen is reported. The diagnostic criteria of TS are reviewed. Visceral manifestations of TS including acute complications are discussed. The importance of recognising such presentations is stressed.
A case of infantile polycystic kidneys diagnosed prenatally by ultrasound is presented here. This condition was confirmed at post-mortem following delivery of the child. The clinical and pathological features of this inheritable disease is discussed.