Cowden syndrome with Lhermitte- Duclos disease presenting as ataxia.

Cowden syndrome or multiple hamartoma syndrome is a rare genodermatosis of autosomal dominant inheritance characterized by multiple hamartomatous lesions of ectodermal, mesodermal and endodermal origin. A 45-year-old man presented to us with a history of dural arteriovenous fistula and intracerebral bleed in the past with gradually progressive difficulty in walking. Magnetic resonance imaging (MRI) of the brain showed a heterogeneous lesion in the cerebellum which was diagnosed as adult Lhermitte-Duclos disease which is considered a component of Cowden syndrome. On examination we found florid skin and mucosal manifestations of Cowden syndrome. A family history of thyroid malignancy was also present. Using the Cleveland Clinic web calculator, the patient had an 82% chance of having a phosphatase and tensin homologue (PTEN) mutation.

Near fatal spontaneous intraperitoneal bleeding: A rare manifestation in a congenital factor X deficiency carrier.

Congenital factor X (FX) deficiency is a rare coagulation disorder of autosomal recessive inheritance, characterized by bleeding of variable severity. Bleeding severity generally correlates with the level of FX functional activity and severe bleeding usually occurs in moderate and severe deficiency, when FX coagulant activity is <5%. FX activity above 10% is infrequently associated with severe bleeding. Here we report the rare occurrence of life-threatening massive spontaneous intraperitoneal bleeding with hypovolemic shock, resulting from spontaneous rupture of an ovarian luteal cyst in a 25-year-old FX deficiency carrier woman, with a FX activity of 26%. She was managed successfully conservatively, with fresh frozen plasma and packed red blood cell transfusions and she showed gradual improvement. The case is being reported to discuss the diagnosis and management of this rare inherited coagulation disorder.

Unusual Case of ALL with Ovarian Relapse.

Patients with acute lymphoblastic leukemia (ALL) can develop relapse in sanctuary sites like brain, ovary or testis even when the bone marrow is in remission. Pelvic recurrence is rarely reported during the follow up of successfully treated ALL in females. We report here a very unusual case of a large pelvic lump which the patient herself could feel, that was probably an ovarian relapse of ALL, successfully treated with re-induction chemotherapy alone and achieved complete remission.

Microalbuminuria in patients with essential hypertension and its relationship to target organ damage: an Indian experience.

Persistent microalbuminuria (MA) is the earliest indicator of chronic kidney disease (CKD) in patients with diabetes mellitus and hypertension. Patients with MA have high risk for target organ damage (TOD) resulting in stroke, retinopathy and adverse cardiovascular events. Though the prevalence of hypertension is high in India, the relationship between MA and TOD in hypertension is not well studied. To address this issue, this study was conducted at the Kottayam Medical College, Kerala, South India, between May 2005 and October 2006. The principal aim was to find out the prevalence of MA and its relationship to TOD in patients with essential hypertension. A total of 150 hypertensives without diabetes mellitus and/or other conditions causing MA were studied. Urine albumin-creatinine ratio (ACR) was assessed and MA was defined as albumin excretion between 30-300 mg/day. The relationship of MA with the duration, severity and previous treatment of hypertension, body mass index (BMI), lipid profile and TOD's like left ventricular hypertrophy (LVH), hypertensive retinopathy and stroke was assessed by univariate analysis. Forty patients (26.67%) were found to have MA of whom 24 were males and 16 were females. MA was significantly higher in those with longer duration and greater severity of hypertension (p < 0.001 in each). Older age (p < 0.001), adverse lipid profile (p < 0.01) and higher BMI (p < 0.04) were the other identifiable risk factors for MA. Gender and history of smoking did not pose higher risk for MA. Stroke (OR=3.8), echocardiography-proven LVH (OR=9.42) and hypertensive retinopathy (OR=9.7) were significantly higher in those with MA. In conclusion, the prevalence of MA in essential hypertension is high and patients with MA have high odds for developing TOD like stroke, LVH and hypertensive retinopathy. Early screening of hypertensives for MA and prompt treatment of positive cases might reduce the burden of CKD and cardiovascular disease in the community.