Childhood ataxia with cerebral hypomyelination (CACH) syndrome: a study of three siblings.

We report a family of three siblings with Childhood Ataxia with Cerebral Hypomyelination. All the siblings presented with early onset cerebellar ataxia beginning around five years of age with mild mental retardation. MRI showed diffuse white matter signal changes in all three patients with cerebellar atrophy while the spectroscopy was abnormal only in the eldest who was the most severely affected. The cases are reported for their rarity as well as for an opportunity of observing this uncommon disease in its stages of evolution in three siblings.

Infected necrosis complicating acute pancreatitis: experience with 131 cases.

OBJECTIVE: Despite advances in its management, the mortality of infected pancreatic necrosis (IPN) remains high. We report our observations on complications and treatment of IPN. METHODS: We studied 131 patients with IPN seen over a 20-year period. Infection, suspected clinically, was proved by presence of extraluminal air on CT scan (23 cases), or by guided percutaneous aspiration of fluid or solid necrotic tissue, and bacteriological studies of the aspirate. Apart from organ support, vigorous nutritional support and appropriate antibiotic therapy were instituted. Evacuation of pus and surgical necrosectomy was done. Feeding jejunostomy was done in the majority of patients. RESULTS: Postoperative complications included multiple organ dysfunction syndrome (MODS; n=40, in addition to 65 with pre-operative MODS), pancreatic fistula (69), gastrointestinal fistula (24), and severe extra-intestinal bleeding (8 patients). Pancreatic fistula developed in 30 of 63 patients who received octreotide and in 39 of 68 patients who did not (p=ns). Forty-five patients died. Of 35 patients who underwent surgery within 15 days of the onset of acute necrotizing pancreatitis, 21 (60%) died; in comparison, of the 96 patients who underwent surgery more than 15 days after onset, 24 (25%) died (p<0.002). Mortality was higher among those with serum albumin less than 2.5 g/dL than in those with albumin above 2.5 g/dL (20/36 versus 25/95; p=0.002), and in those with MODS (43/105) than in those without (2/26; p=0.001). CONCLUSIONS: Complications of IPN include MODS (pre- or post-operative), gastrointestinal and pancreatic fistula, and extra-intestinal bleeding. Serum albumin below 2.5 g/dL, development of MODS and need for early surgery appear to be unfavorable features associated with higher mortality.