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.

Moebius Syndrome: A Rare Entity or a Missed Diagnosis?

Moebius syndrome is a rare congenital neurological disease, nonprogressive in nature, characterized by weakness or palsy of multiple cranial nerves, most often the sixth and seventh cranial nerves. Third and twelfth cranial nerves are also frequently involved. Infants presenting with similar presentation are often misdiagnosed because the facial palsy is commonly attributed to other causes such as birth trauma. Here, we present a 6-week-old infant presenting with poor weight gain and feeding problem, ultimately stamped as Moebius syndrome on the basis of clinical findings suggestive of multiple cranial nerve palsies without any apparent cause.

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.

Clinico-etiological profile of childhood stroke in a Tertiary Care Hospital in Eastern India.

BACKGROUND: The clinical pattern and etiology of stroke may vary over time or with geographical location. In Asian countries, specific etiology and outcome of childhood stroke have been rarely reported. OBJECTIVE: To determine the clinical and etiological pattern of childhood stroke and their outcome in a Tertiary Care Center. MATERIALS AND METHODS: This study was conducted in a Tertiary Care Hospital of Kolkata over a period of 3 years. All children from 6 months to 12 years, diagnosed as childhood stroke by radio-imaging were included in our study. Children presenting with paraplegia/paraparesis were excluded. Etiologies were determined on the basis of clinical examination, related blood investigations and radio-imaging findings. Data gathered from the stroke patients were entered into a preformed proforma and appropriate statistical analyses were done. RESULT: Most commonly found clinical presentation was hemiparesis (70.6%). Next in place was a seizure (61.8%) and alteration of consciousness (58.8%). The most common etiology of childhood stroke in our hospital was found to be an intracranial infection (41.2%), followed by vascular etiology. Stroke was ischemic in nature in 91.2% of cases. Among the clinical features, vomiting, alteration of sensorium, and fever were significantly (P < 0.01) more in infectious cases of stroke, but hemiparesis was significantly (P < 0.05) more common in noninfectious etiology. Most of the cases of noninfectious etiology (95%) completely recovered without any persistent neurodeficit or mortality. CONCLUSION: Intracranial infection is the commonest etiology of stroke in pediatric patients presenting at our hospital. Commonest type is an ischemic stroke. The most of the patients completely recovered from the acute neurological insult after proper and timely management.

Pansclerotic morphea: A male child with hemiatrophy of lower limb.

Morphea is a variant of localized scleroderma in which lesions are usually limited to the skin and subcutaneous tissue. Pansclerotic morphea is a rare atrophying and sclerosing type of morphea. It can follow a comparatively benign course with spontaneous resolution of symptoms, or sometimes can lead to a variety of complications resulting in progressive disability. We report a case of Pansclerotic morphea in an 8-year-old male child involving one lower extremity with extension to the lower trunk. It was associated with deformity and hemiatrophy of that limb, leading to restriction of normal day-to-day activity. The case is being reported in view of its rare occurrence in conjunction with other rarer features.

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.