Familial Creutzfeldt-Jakob Disease in an Indian Kindred.

It is now known that the inherited prion disease is caused by over 60 different mutations in the Prion protein (PRNP) gene. Four missense mutations at codons 102, 178, 200 and 210, account for over 95% of these cases. In this study we describe, a large Indian family with familial Creutzfeldt Jakob Disease (fCJD). One affected member presented with a presenile dementia, a protracted clinical course and characateristic MRI features. Genetic analysis revealed a D178N mutation in the 2 affected individuals and 7 unaffected members. The neuropathological examination of the brain of one of the affected member was conspicuous by spongiform degeneration, neuronal loss and gliosis. This is a detailed report of a genetically and neuropathologically proven fCJD from India.

Camptodactyly-arthropathy-coxa vara-pericarditis syndrome: important differential for juvenile idiopathic arthritis.

Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome is an inherited disorder characterized by congenital or early-onset flexion camptodactyly, childhood-onset of non-inflammatory arthropathy, often associated with non-inflammatory pericarditis or pericardial effusion and progressive coxa vara. The causative gene is located on chromosome band 1q25-31. This gene encodes for "proteoglycan-4" (PRG-4), which is a surface lubricant for joints and tendons. This syndrome has distinct radiological and histological features, which are important to recognize since it may clinically mimic juvenile idiopathic arthritis and mutation studies may not be easily available. We describe a case of a 3-year 3-month-old female with features of CACP syndrome.

Magnetic Resonance-guided Focused Ultrasound Treatment for Uterine Fibroids: First Study in Indian Women.

OBJECTIVES: To study the results of magnetic resonance-guided focused ultrasound surgery (MRgFUS) treatment carried out on Indian patients in our Hospital. MATERIALS AND METHODS: Fifty Indian women (mean age = 36.2 ± 8.3 years) were treated for fibroids as outpatients using the ExAblate MRgFUS system (InSightec). Non-perfused volumes (NPVs) were measured immediately after treatment to calculate the treatment outcomes. A validated symptom-specific questionnaire to record their symptoms prior to treatment and six months following treatment was completed by patients. The size of the fibroids was measured on the day of the treatment and during the 6-month checkup to calculate shrinkage. Adverse events during and following treatment were recorded and monitored. RESULTS: The average NPV ratio measured after the treatment was 88% ± 6%, indicative of high ablated fibroid tissue. Prior to treatment, the mean Symptoms Severity Score was 56.9 ± 4.8 (n = 50), which is indicative of highly symptomatic patients. Six months following treatment, there was an average fibroid shrinkage of 30% ± 11%, and a significant decrease in the mean score to 28.6 ± 6.0 (n = 50) (P < 0.001). There were no reports of serious or unexpected adverse events at any point during treatment or during the follow-up period from any of the 50 women treated in the current study. CONCLUSIONS: The current results obtained after 6 months of treatment corroborated previous data on the safety and efficacy of MRgFUS for treating uterine fibroids. This is the first publication that provides such data for a large cohort of Indian women.

Two cases of anomalous origins of left coronary artery with a course between the aortic root and the free standing subpulmonary infundibulum on CT coronary angiography.

Two cases of anomalous origins of the left coronary artery have been demonstrated on a CT coronary angiogram. In one case the left main coronary artery arose from the right aortic sinus of valsalva, separate from the right coronary artery. In the second case there was a single coronary artery arising from the right aortic sinus of valsalva. In both these rare cases, the left main coronary artery traversed between the aortic root and the freestanding subpulmonary infundibulum and then divided into its regular branches. These cases show well, the left main artery actually coursing free of the crista supraventricularis portion of the outlet septum. This is contrary to the commonly used classifications and descriptions, which describe the anomalous coronary artery actually traversing through the outlet septum.

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.

Magnetic resonance imaging findings in an unusual case of atlanto axial dislocation and vertebral artery-vein fistulas in a patient of neurofibromatosis-1.

Vertebral arteriovenous fistulas are uncommon in neurofibromatosis. We describe MRI findings of a patient with an unusual association of bilateral vertebral arteriovenous fistulas with an atlantoaxial dislocation in the setting of neurofibromatosis.