Allgrove syndrome: adrenal insufficiency with hypertensive encephalopathy

Allgrove syndrome or triple-A syndrome is a rare familial multisystem autosomal recessive disorder. It is characterised by triad of alacrima, achalasia and adrenal insufficiency due to adrenocorticotropin hormone [ACTH] resistance. If it is associated with autonomic dysfunction, it is termed as 4-A syndrome. This syndrome is caused by a mutation in the Achalasia - Addisonism - Alacrima [AAAS] gene on chromosome 12q13 encoding the nuclear pore protein ALADIN. A 5-year boy presented with history of fits and altered sensorium for one day. He also had increased pigmentation of body and persistent vomiting since six months of age. Laboratory investigations and imaging revealed alacrimia, achalasia and adrenal insufficiency due to ACTH resistance. He had episodes of hypertensive crises, for which he was thoroughly investigated and it was found to be due to autonomic instability. Based on clinical findings and investigations he was diagnosed as case of Allgrove syndrome or 4-A syndrome with autonomic dysfunction

Oesophageal atresia: role of gap length in determining the outcome

Twenty neonates born with oesophageal atresia and tracheoesophageal fistula over a period of two years were managed and the role of gap length between the two ends of oesophagus on the outcome was studied. Twelve [60%] were males and 8 [40%] were females. Body weight ranged from 2.2 kg to 3 kg. Only 2 [10%] were received within 24 hours of birth. Six [30%] were received within 48 hours of birth, 3 [15%] were 3 days old and 9 [45%] were 6 days old at the time of admission. Gap between the upper pouch and the lower fistulous end of oesophagus was 2cm in 4 [20%], >2cm but 3cm in 8 cases [40%] and >3 cm in 8 [40%] cases. Preoperatively chest infection was found in 16 [80%] cases. Associated congenital malformations were found in 7 [35%] cases. Primary anastomsis of Oesophagus was performed in all the cases. In order to relieve the tension on the anastomosis upper segment circular myotomy was performed in 8 [40%] cases. Post operative survival was 45%. Early postoperative complications among survivors included anastomotic leak in 3 [33%], pneumonia in 2 [22%] and wound infection in 2 [22%] cases. Late complications included gastroesophageal reflux in 7 [78%] and stricture formation in 6 [67%] cases. Major cause of death was sepsis secondary to chest infection. Authors conclude that prognosis of oesophageal atresia-tracheoesophageal fistula is excellent in children born with gap length 2cm. Morbidity and mortality increases proportionately as gap length increases beyond 2 cm