Restrictive cardiomyopathy: A rare presentation of gaucher disease.

Restrictive cardiomyopathy is an unusual form of cardiomyopathy accounting only for 2%-5% of all pediatric cardiomyopathies. It is mostly idiopathic. Gaucher disease in association with restrictive cardiomyopathy is extremely rare. We herein report a case of cardiac failure in an 8-year-old male child caused by restrictive cardiomyopathy. Pathogenesis of which was attributed to Gaucher disease. In any case of restrictive cardiomyopathy, Gaucher disease should be included in differential diagnosis and investigated accordingly.

Résumé La cardiomyopathie restrictive est une forme inhabituelle de cardiomyopathie qui ne représente que 2 à 5 % de toutes les cardiomyopathies pédiatriques. C'est surtout idiopathique. La maladie de Gaucher associée à une cardiomyopathie restrictive est extrêmement rare. Nous rapportons ici un cas d'insuffisance cardiaque dans un Enfant de sexe masculin de 8 ans causé par une cardiomyopathie restrictive. dont la pathogenèse a été attribuée à la maladie de Gaucher. En tout cas de restriction cardiomyopathie, la maladie de Gaucher doivent être incluses dans le diagnostic différentiel et étudiées en conséquence.

Bilateral ptosis without upward gaze palsy: Unusual presentation of midbrain tuberculoma.

Central nervous system tuberculoma can have variable presentations depending on the site and number of tuberculomas. We are reporting a rare case of an 11-year-old male child presenting with ptosis and ataxia. Clinical examination revealed bilateral partial 3rd cranial nerve palsy (ptosis without any upward gaze palsy) associated with dysdiadochokinesia and ataxia on the right side. Magnetic resonance imaging of the brain revealed a single ring-enhancing lesion in the dorsal midbrain with perifocal edema. Magnetic resonance spectroscopy provided the etiological information as tuberculoma.

Camphor poisoning: An unusual cause of seizure in children.

Camphor is a pleasant-smelling cyclic ketone with propensity to cause neurologic side-effect, especially seizures. We report a case of 1½-year-old child who after inadvertent consumption of camphor, experienced an episode of generalized tonic clonic seizure. This case highlights the importance of enquiring any intake of material (medicinal or otherwise) in every patient presenting with seizure and notifying presence of typical smell, if any.

Prevalence of congenital anomalies in neonates and associated risk factors in a tertiary care hospital in eastern India.

BACKGROUND: Congenital anomalies are a major cause of stillbirths and neonatal mortality. The pattern and prevalence of congenital anomalies may vary over time or with geographical location. AIMS AND OBJECTIVES: The aim of this study is to determine the proportion and types of congenital anomalies in live newborns and to study maternal and perinatal risk factors. MATERIALS AND METHODS: This cross-sectional descriptive study was carried out in the neonatal care unit of R. G. Kar Medical College and Hospital during the period of September 2011 to August 2012. All the live born babies born in this hospital during this period were included. The newborns were examined for the presence of congenital anomalies and mothers were interviewed for socio-demographic variables. RESULTS: During the study period, 12,896 babies were born, of which 286 had congenital malformations, making the prevalence 2.22%. Most of the women (55.7%) belonged to the age group between 21 and 30 years. Congenital anomalies were seen more commonly (3.3%) in the multiparas in comparison with primiparas (1.8%). The predominant system involved was Musculo-skeletal system (33.2%) followed by gastro-intestinal (GI) system (15%). Talipes (17.1%) was the most common one in musculoskeletal group and likewise cleft lip and cleft palate in GI system. Congenital anomalies were more likely to be associated with low birth weight, prematurity, multiparity, consanguinity and cesarean delivery. CONCLUSION: Public awareness about preventable risk factors is to be created and early prenatal diagnosis and management of common anomalies is strongly recommended.

Symptomatic infantile hepatic hemangioendothelioma successfully treated with steroid.

A case of hepatic hemangioendothelioma presenting as congestive cardiac failure in a neonate is being reported which was managed successfully with oral prednisolone, resulting in improvement of symptoms and regression of tumor within 3 months.