Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report.

BACKGROUND: Cerebrotendinous xanthomatosis is a very rare autosomal recessive lipid storage disorder affecting bile acid biosynthesis. It is manifested by subtle neurological and non-neurological symptoms due to abnormal tissue lipid deposition. Diagnosis is usually delayed but early diagnosis and replacement therapy can prevent devastating neurological sequelae. CASE PRESENTATION: We present a case of a 25-year-old Asian Indian woman who presented with gait difficulty, fusiform swellings of bilateral tendo-Achilles and infrapatellar tendons, along with history of bilateral cataract surgery 1 year earlier. The diagnosis was made on the basis of clinical, biochemical, imaging, and histopathological analysis and replacement therapy was started. CONCLUSIONS: The peculiarity of the present case is the absence of any neurological manifestations which are usually the early clues to the diagnosis of cerebrotendinous xanthomatosis. The present case report emphasizes the fact that early age bilateral cataracts along with bilateral tendo-Achilles xanthomas can be early pointers toward the diagnosis of cerebrotendinous xanthomatosis.

Oxidative stress determined through the levels of antioxidant enzymes and the effect of N-acetylcysteine in aluminum phosphide poisoning.

INTRODUCTION: The primary objective of this study was to determine the serum level of antioxidant enzymes and to correlate them with outcome in patients of aluminum phosphide (ALP) poisoning and, secondly, to evaluate the effect of N-acetylcysteine (NAC) given along with supportive treatment of ALP poisoning. DESIGN: We conducted a cohort study in patients of ALP poisoning hospitalized at a tertiary care center of North India. The treatment group and control group were enrolled during the study period of 1 year from May 2011 to April 2012. INTERVENTIONS: Oxidative stress was evaluated in each subject by estimating the serum levels of the enzymes, viz. catalase, superoxide dismutase (SOD) and glutathione reductase (GR). The treatment group comprised of patients who were given NAC in addition to supportive treatment (magnesium sulfate and vasopressors, if required), while in the control group, only supportive treatment was instituted. The primary endpoint of the study was the survival of the patients. MEASUREMENTS AND RESULTS: The baseline catalase (P = 0.008) and SOD (P < 0.01) levels were higher among survivors than non-survivors. Of the total patients in the study, 31 (67.4%) expired and 15 (32.6%) survived. Among those who expired, the mean duration of survival was 2.92 ± 0.40 days in the test group and 1.82 ± 0.33 days in the control group (P = 0.043). CONCLUSIONS: This study suggests that the baseline level of catalase and SOD have reduced in ALP poisoning, but baseline GR level has not suppressed but is rather increasing with due time, and more so in the treatment group. NAC along with supportive treatment may have improved survival in ALP poisoning.

Pituitary stalk interruption syndrome: Case report of three cases with review of literature.

Pickardt syndrome (Pickardt-Fahlbusch syndrome) is a rare congenital syndrome characterized by tertiary hypothyroidism caused by the interruption of the portal veins between hypothalamus and adenohypophysis. Typical features of this syndrome are tertiary hypothyroidism with low thyroid stimulating hormone, hyperprolactinemia and other pituitary hormone deficiencies. Pituitary stalk interruption syndrome is characterized by a triad of thin or interrupted pituitary stalk, aplasia or hypoplasia of the anterior pituitary and absent or ectopic posterior pituitary (EPP) seen on magnetic resonance imaging (MRI). It is a congenital anomaly of pituitary whose exact prevalence is unknown. In some cases, it is restricted to EPP or pituitary stalk interruption. We are presenting the case history along with MRI finding of three children's who presented with short stature and delayed puberty.

Accidental phosgene gas exposure: A review with background study of 10 cases.

Here, authors present a review on clinical presentation and management of exposure of phosgene gas after reviewing the literature by searching with keywords phosgene exposure on Google, Cochrane, Embase and PubMed with a background of experience gained from 10 patients who were admitted to our institute after an accidental phosgene exposure in February 2011 nearby a city in India. Phosgene is a highly toxic gas, occupational workers may have accidental exposure. The gas can also be generated inadvertently during fire involving plastics and other chemicals and solvents containing chlorine, which is of concern to emergency responders. Phosgene inhalation may cause initially symptoms of respiratory tract irritation, patients feel fine thereafter, and then die of choking a day later because of build up of fluid in the lungs (delayed onset non-cardiogenic pulmonary edema). Phosgene exposure is associated with significant morbidity and mortality. Patients with a history of exposure should be admitted to the hospital for a minimum of 24 h for observation because of the potential for delayed onset respiratory failure and acute respiratory distress syndrome.

All Madelung deformities are not endocrine.

Madelung deformity is a rare inherited disorder associated with endocrine disorders like Turner's syndrome, pseudohypoparathyroidism, but can be seen with short stature homeobox deficiency conditions such as Leri-Weill dyschondrosteosis (LWD) and Langers mesomelic dysplasia. It has also been reported following trauma to the distal radius epiphysis neoplasia mucopolysaccharidosis (MPS) and achondroplasia. Madelung deformity is an abnormality of distal radial epiphysis where in progressive ulnar and volar tilt of the articular surface occurring in association with distal subluxation of ulna. A 13-year-old girl was referred to us for evaluation of bilateral deformity of wrist and short stature. There was ulnar deviation and dorsal tilt of bilateral hands without history of pain to the joint trauma and family history of similar illness. On X-ray, wrist showed malformed distal radial epiphysis with dorsal and ulnar shift and with increased length of phalanges suggestive of Madelung deformity. X-ray spine was normal. Ultrasound abdomen showed normal uterus and ovary and her follicle stimulating hormone. Luteinizing hormone was normal and so was urine MPS screening. Based on the above points the diagnosis of LWD was made.

Association of serum lipids with diabetic retinopathy in type 2 diabetes.

A total number of 140 type 2 diabetic patients with diabetic retinopathy (DR) were enrolled in the study from diabetic clinic during May 2011 till June 2012 to determine correlation between severity of DR with serum lipid and other modifiable risk factors in type 2 diabetic patients. Information including age, sex, height, body weight, body mass index (BMI), waist-hip ratio (WHR), and systolic and diastolic blood pressure was collected from each patient. Fasting plasma sugar, low density lipoprotein (LDL), triglyceride level (TG), high density lipoprotein (HDL), glycated hemoglobin (HbA1C), creatinine, and 24 h urinary albumin excretion was done for each patient. Estimated glomerular filtration rate (eGFR) was measured by modification of diet in renal disease (MDRD) equation. Patients were divided in five groups according to retinopathy status based on early treatment DR study (ETDRS) disease severity level. Statistical analysis was performed with Statistical Packages for Social Sciences (SPSS) statistical software (version 17.0 for Windows). The alpha level was set at P = 0.05 for all tests. Statistically significant positive correlation between severity of DR with systolic blood pressure P = 0.005 (r = 0.974), diastolic blood pressure P = 0.001(r = 0.994), LDL P = 0.005 (r = 0.976), TG P = 0.001 (r = 0.990), and 24 h urinary albumin P = 0.004 (r = 0.977) was documented. DR was also strongly positively correlated with smoking P = 0.017 (r = 0.941) and duration of diabetes P = 0.003 (r = 0.981). There was strong inverse correlation of DR with HDL P = 0.001 (r = -0.994) and eGFR P = 0.002 (r = -0.987). Serum lipids were significantly correlated with severity of DR.

Comparative study of effectiveness of Pap smear versus visual inspection with acetic acid and visual inspection with Lugol's iodine for mass screening of premalignant and malignant lesion of cervix.

BACKGROUND AND OBJECTIVE: Cancer of the cervix is a leading cause of morbidity and mortality among women worldwide. Therefore, to curb the disease, there is a need to develop a screening test that has good sensitivity and specificity. The present study is aimed to compare the effectiveness of the Pap smear, visual inspection with acetic acid (VIA) and visual inspection with Lugol's iodine (VILI) for mass screening of premalignant and malignant lesions of the cervix; to evaluate the usefulness of VIA and VILI as an adjunct to improve sensitivity of cervical cytology; and to evaluate the role of VILI as a parallel screening method with VIA to enhance its test performance. DESIGN AND SETTING: This was a prospective, analytical study in which 210 patients of the reproductive age group attending the gynecology OPD were enrolled. PATIENTS AND METHODS: Patients were first subjected to Pap smear followed by VIA, VILI, colposcopy and biopsy for confirmation of lesion, if needed. Data was obtained and statistically analyzed. RESULTS: Of the 210 patients, 34 (16.27%) had positive Pap test, 29 (13.87%) had positive VIA and 24 (11.43%) had positive VILI and 31 (14.75%) showed features of cervical intraepithelial neoplasia (CIN) on colposcopy. Of the total of 48 patients in whom either of the screening tests was positive and had undergone cervical biopsy, one had CIN-3, three had CIN-2, 12 had CIN-1, three had carcinoma in situ CIS and 29 reported normal. In our study, 40 patients were picked up as positive by combination of these tests, of which 19 (47.50%) had CIN on biopsy. CONCLUSION: Our study showed that VIA and VILI had sensitivity comparable to Pap smear and can thus be a suitable potential alternative/adjunctive screening test not only in a resource-poor setting but in well-equipped centers also. And, use of a combination of tests (Pap+VIA+VILI) had 100% sensitivity but at cost of low specificity and more false-positive results.

Quadriparalytic disseminated neurocysticercosis.

Cysticercosis is the most common parasitic infection of the central nervous system. Cysticercosis infrequently affects the spine, but when it does, it can present with symptoms similar to other more common spinal diseases. Here, the authors report a case of disseminated cysticercosis, with simultaneous involvement of brain and the spinal cord. Initially, the patient was misdiagnosed as tuberculoma on the basis of cerebrospinal fluid examination and CT scan of brain and was being treated with antitubercular therapy. Later on the patient developed quadriparesis which was investigated and diagnosed to be disseminated neurocysticercosis.

A rare case of gliomatosis cerebri presenting as dementia.

Dementia with the onset before the age of 65 years is classified as early-onset dementia. Although uncommon, it has considerable impact on the lives of patients and care givers, alike. A substantial subset of patients may have underlying reversible causes. Yet, many, especially those of the very young may be initially misdiagnosed. A case of young woman with rapid mental decay is described here. She was finally diagnosed with gliomatosis cerebri (GC) involving only right frontal lobe. This atypical radiological feature of GC with primary presentation as memory loss needs special attention and clinicians should be aware of such conditions.

Subaortic membrane with rupture of sinus of Valsalva presented with infective endocarditis and its thromboembolic complications.

Rupture of the sinus of Valsalva (RSOV) is an uncommonly encountered condition. It can present with wider manifestations ranging from an asymptomatic murmur to cardiogenic shock. The case discussed in this report also had subaortic membrane which usually presents with subvalvular aortic stenosis, left ventricular hypertrophy, myocardial ischemia and sudden death. Corrective cardiac surgery was advised, but due to financial constraints, the patient could not be operated and he died. Here, the authors report for the first time an unusual presence of both RSOV and subaortic membrane and the patient presented with thromboembolic complication resulting from infective endocarditis.