Neurological Wilson's disease without hepatic involvement in an adolescent female.

A female adolescent presented with a 9 month history of progressive involuntary movements, initially manifesting as finger tremors and evolving into flinging motions of the extremities, resulting in an inability to walk over the last 4 months. Concurrently, she developed dysarthria. Neurologically, she exhibited normal power, rigidity and brisk deep tendon reflexes, with a downgoing plantar reflex. Contrast-enhanced MRI revealed hyperintensity in bilateral caudate lobes, basal ganglia and pons, indicative of Wilson's disease. Liver function tests and ultrasound were normal while Kayser-Fleischer rings were confirmed by slit lamp examination. Serum ceruloplasmin was low, 24-hour urine copper was elevated (125.5 mcg) and whole exome sequencing identified a heterozygous ATP7B mutation, confirming the diagnosis. Isolated neurological involvement without hepatic involvement is an extremely rare presentation and needs clinical expertise to delineate Wilson's disease as a possible aetiology.

Noradrenaline for reverting hepatorenal syndrome: a prospective, observational, single-center study.

OBJECTIVE: To evaluate the effectiveness of noradrenaline for the treatment of hepatorenal syndrome (HRS). BACKGROUND: HRS represents the development of renal failure in cirrhotic patients. The standard treatment for HRS is terlipressin, which, as opposed to noradrenaline, is more expensive and less accessible in most tertiary care centers. PATIENTS AND METHODS: Thirty consecutive patients with HRS type 1 received noradrenaline (1-4.0 mg/hour) and albumin for 14 days. The parameters recorded were: serum creatinine levels, creatinine clearance, mean arterial pressure (MAP), urine output, and serum sodium levels evaluated at baseline and on treatment days 1, 3, 7, and 14. RESULTS: Most patients achieved serum creatinine levels <1.5 mg/dL and were considered responders (22/30, 73%), whereas eight patients (27%) were nonresponders. At baseline, responders and nonresponders differed only regarding initial bilirubin levels and international normalized ratio values. Treatment duration was 7.5±3.2 days. Responders experienced a significant (p<0.05) decrease in serum creatinine levels (from 3.26±0.48 to 1.28±0.14 mg/dL), as well as a significant increase (p<0.05) in creatinine clearance (from 21±4.1 to 67.7±12.1 mL/min), urine output (from 583±41.1 to 1163±105 mL/day), MAP (from 79.2±2.94 to 93.9±2.34 mmHg), and serum sodium levels (from 125±2.01 to 132.3±1.39 mEq/L). In nonresponders, the MAP increased, but serum creatinine levels also increased, reflecting a decrease in creatinine clearance and urine output, with no significant change in serum sodium levels over the duration of the treatment. CONCLUSION: In most patients, noradrenaline treatment induced systemic vasoconstriction resulting in HRS reversal, with acceptable safety, in agreement with previously reported outcomes of terlipressin treatment.

An observational study of vitamin b12 levels and peripheral neuropathy profile in patients of diabetes mellitus on metformin therapy.

METHODS: A descriptive, observational study was completed in a tertiary care hospital between November 2014 and March 2016. Fifty consecutive patients of Type 2-Diabetes Mellitus who had been on metformin therapy for at least three months were included in our study. Several Parameters were compared with vitamin B12 levels and severity of peripheral neuropathy (using Toronto Clinical Scoring System (TCSS) and Nerve Conduction Velocity). These included the duration of diabetes, duration of metformin usage, dietary history, and HbA1c levels. Definite B12 deficiency was defined as B12<150pg/ml and possible B12 deficiency as <220pg/ml. RESULTS: In our study, we found a negative correlation between duration of metformin use and Vitamin B12 levels(r=-0.40). The mean Vitamin B12 levels seen in our study was 212.3pg/mL. There is a positive correlation between the duration of metformin therapy and peripheral neuropathy (r=0.40). The mean TCSS score was 6.8. The percentage of patients with mild neuropathy was 28%, with moderate neuropathy was 20% and severe neuropathy in 12% of the patients. The average duration of metformin use in patients without peripheral neuropathy was 5.5yrs whereas the average length of metformin use in patients with peripheral neuropathy was 10.4 yrs. CONCLUSION: Patients on long-term metformin therapy are at a high risk for Vitamin B12 deficiency and peripheral neuropathy. Interval Screening for peripheral neuropathy is recommended for patients on metformin even if Vitamin B12 levels appear to be normal.

Case Report: Migrainous Infarct without Aura.

BACKGROUND: Stroke in a migraine with aura has been documented in several cases, even deserving the merit of a classification as complicated migraine. Herein, we present a rare case of migrainous infarct without aura. The diagnosis was challenging due to lack of risk factors. The patient was unique in not having any other comorbidities. CASE PRESENTATION: The case is of a 21-year-old female presenting with right-sided hemiplegia and facial drooping. She had had an index presentation of throbbing headaches for the past 2 years, typical of a migraine but not preceded by any aura symptoms. However, in the current episode, the pain became excessively severe and accompanied by right-sided hemiplegia and facial drooping. A full investigation workup using MRI revealed evidence of infarct in the left temporoparietal and basal ganglion region. CONCLUSION: Our case highlights the need to evaluate silent ischemic stroke in case of prolonged headache with a history of migraine as well as the need for precaution to avoid the use of triptans or opioids in such a case. It also highlights the conditions that need to be excluded before labeling it as a migrainous infarct.