Association of Child Neurology-Indian Epilepsy Society Consensus Document on Parental Counseling of Children with Epilepsy.

When a child is diagnosed with epilepsy, counseling regarding the same is done by the treating doctor. Most parents are frightened and have poor knowledge about epilepsy. Therapeutic advice including drug dosage, administration and side effects takes up the major part of physician's time, thereby neglecting important issues like home seizure management, follow up and others. These lacunae in knowledge require systematic patient and family education. To address these issues, an expert group meeting of pediatric neurologists and epileptologists in India along with social workers/epilepsy educators, legal experts, parents, and teachers was held. The various aspects regarding parental counseling in children with epilepsy were discussed and a consensus document was formulated. Here authors present the group consensus statement on counseling parents and caregivers of children with epilepsy. This document is intended to help physicians and pediatricians counsel the families when a child is diagnosed with epilepsy.

Periventricular nodular heterotopia, frontonasal encephalocele, corpus callosal dysgenesis and arachnoid cyst: A constellation of abnormalities in a child with epilepsy.

A 7-year-old male child presented with poorly controlled generalized tonic-clonic seizures. On examination, he was mentally retarded, deaf and had a swelling at the root on the nose. Computed tomography scan done previously revealed a left temporal arachnoid cyst (AC) due to which he was referred for surgery. However, magnetic resonance imaging revealed a constellation of abnormalities - all of which could be responsible for his seizures. The combination of periventricular nodular heterotopias with encepaholcele is rarely described in the literature, and more infrequently so its combination with AC and callosal dysgenesis - the Chudley-Mccullough syndrome. We describe the case and review relevant literature on this subject.

An uncommon endocrine cause of pyrexia of unknown origin.

We report a previously healthy 43 yr old male who presented with prolonged fever, weight loss and neck pain for 3 weeks. Even after extensive work up for the possible causes of pyrexia, the cause remained elusive. In view of persistent tachycardia and neck pain, possibility of subacute thyroiditis was suspected. Thyroid function test (TFT) revealed thyrotoxicosis, which on further evaluation was found to be secondary to DeQuervains thyroiditis. He was treated with NSAIDs, beta-blockers and steroids. He improved rapidly but went on to develop hypothyroidism on follow-up and required levothyroxine replacement.

Cardiac tamponade as a presenting manifestation of Sheehan syndrome.

We report a 38-year-old Syrian woman who presented with progressive breathlessness, hypotension and circulatory collapse. Echocardiogram revealed a large pericardial effusion with evidence of cardiac tamponade. There was a history of secondary amenorrhoea, loss of axillary and pubic hair following childbirth at 28 years of age. Investigations revealed low levels of gonadotrophins, oestrogen, prolactin and thyrotrophin but normal levels of basal and post-synacthen (ACTH) cortisol. An MRI of the sella showed atrophic changes of the pituitary. She was treated with intravenous fluids, dopamine infusion, intravenous hydrocortisone and thyroxine replacement. The clinical suspicion of Sheehan syndrome facilitated early administration of corticosteroids, adequate thyroxine replacement and rapid resolution of pericardial effusion.

Long-term efficacy of bromocriptine in macroprolactinomas and giant prolactinomas in men.

We prospectively analyzed presentations and long-term therapeutic responses to bromocriptine (BRC) in 29 newly diagnosed men with macroprolactinomas including 14 patients with 'giant prolactinoma'. Clinical symptoms, prolactin (PRL) levels and tumor size on MRI were measured before BRC and sequentially thereafter. The duration of follow-up were 6 to 96 (30.7 +/- 14.4) months. Pretreatment PRL ranged between 124 and 29200 ng/mL (1698 +/- 857.1) and tumor volume was between 2.81 and 132 cm(3) (21.1 +/- 24.3). Baseline PRL levels did not correlated with tumor volume (r = 0.45, P > 0.05). Significant decrease (P = 0.0003) in PRL, at least 96% of the pretreatment value from 1698 +/- 857.1 ng/mL to 42.4 +/- 30.6 ng/mL occurred in 26 patients. Persistent normalization of PRL levels (< 16 ng/mL) for at least 6 months was achieved in 12 patients (40.8%). Twenty-two patients (74.8%) achieved significant tumor shrinkage (P = 0.005) at study completion. An improvement in visual field defects (VFD) and restoration of libido and potency was observed in 40% and 33.3%, respectively. Trans-sphenoidal / trans-frontal pituitary surgery was performed in 9 patients (31%) for various reasons: pituitary apoplexy in 1, CSF rhinorrhea in 2, increasing prolactin in spite of BRC therapy in 3, and intolerant /resistant to BRC in 3 patients. These data suggest that, in male macro- and giant prolactinomas, dopamine agonists represent the first-line therapy effective in reducing PRL, restoration of libido and potency, improvement of VFD and determining tumor shrinkage.

Magnetic resonance imaging of muscle in nemaline myopathy.

We report muscle MRI findings of 10 patients from 8 families with nemaline myopathy. Patients with involvement of the nebulin (NEB) gene showed a consistent pattern of selective muscle involvement corresponding to clinical severity. In mild cases, there was complete sparing of thigh muscles and selective involvement of tibialis anterior and soleus. In moderate cases, there was predominant involvement of rectus femoris, vastus lateralis and hamstring muscles and diffuse involvement of anterior compartment and soleus. Patients with nemaline myopathy secondary to mutations in the skeletal muscle alpha-actin (ACTA1) gene showed diffuse involvement of thigh and leg muscles with relative sparing of the gastrocnemii. Selective muscle involvement in both genetic categories was distinct from what has been reported in other congenital myopathies. We conclude that muscle MRI may be applied to distinguish nemaline myopathy from other conditions with similar clinical and histopathological features, to supplement clinical assessment in individual patients and to help direct genetic testing.

Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations.

Mutations in the skeletal muscle ryanodine receptor (RYR1) gene are associated with a wide range of phenotypes, comprising central core disease and distinct subgroups of multi-minicore disease. We report muscle MRI findings of 11 patients from eight families with RYR1 mutations (n=9) or confirmed linkage to the RYR1 locus (n=2). Patients had clinical features of a congenital myopathy with a wide variety of associated histopathological changes. Muscle MR images showed a consistent pattern characterized by (a) within the thigh: selective involvement of vasti, sartorius, adductor magnus and relative sparing of rectus, gracilis and adductor longus; (b) within the lower leg: selective involvement of soleus, gastrocnemii and peroneal group and relative sparing of the tibialis anterior. Our findings indicate that patients with RYR1-related congenital myopathies have a recognizable pattern of muscle involvement irrespective of the variability of associated histopathological findings. Muscle MRI may supplement clinical assessment and aid selection of genetic tests particularly in patients with non-diagnostic or equivocal histopathological features.

Hypophosphatemic rickets and osteomalacia in polyostotic fibrous dysplasia.

A 17 year-old girl with polyostotic fibrous dysplasia and hypophosphatemia had inappropriately low tubular reabsorption of phosphate. She had radiological evidence of rickets and osteomalacia. The patient showed clinical improvement after treatment with phosphate supplementation, active vitamin D (calcitriol) and alendronate. It is postulated that either a phosphaturic substance elaborated from the dysplastic bone or target-organ (kidney) unresponsiveness may interfere with phosphate reabsorption in the renal tubule.

Mortality in diabetes: a retrospective analysis from a tertiary care hospital in North India.

Cause(s) of death in patients with diabetes mellitus (DM) admitted to a tertiary care hospital in North India was analysed from classified information in patients' death records and case file. Of the 306652 total admissions from 1991 to 1999, 21584 patients died (7.04%), 592 of whom (355 men and 237 women) had DM (2.7%). Information from 92 patients with diabetes could not be retrieved and six patients with hyperglycemia of short duration (two with gestational DM, three with post-transplant diabetes and one with stress hyperglycemia) were excluded. Of the 494 patients, 456 (92.3%) had T2DM and 38 (7.7%) had T1DM. Four hundred and forty patients had diabetes related mortality: infections (230, 46.5%), cardiovascular events (86, 17.4%), chronic renal failure (CRF) (48, 9.7%), stroke (30, 6%), diabetic ketoacidosis (DKA) (15, 3%), hyperosmolar coma (11, 2.2%), and hypoglycemia (5, 1%), while others (54 patients) had diabetes unrelated deaths. Cause of death could not be ascertained in six patients (1.2%). Death was attributed to a single cause in 301 (60.9%), to two causes in 175 (35.4%) and to three or more causes in 12 (2.4%) patients. Analysis of the cause of death in DM versus hospital in-patients in general, showed infection (P<0.02), coronary artery disease (CAD) (P<0.001), and CRF (P<0.001) to be more frequent in diabetes.