A rare cause of neonatal seizure - Van der Knaap disease: A case report
Journal Title: Indian Journal of Child Health - Year 2018, Vol 5, Issue 2
Abstract
Van der Knaap disease is a rare genetic autosomal recessive disorder characterized by megalencephaly and leukodystrophy with subcortical cysts. In India, most of the cases reported are from a particular ethnic background (Agarwal) with consanguinity. Here, we are reporting a case not belonging to this ethnic background and born out of non-consanguineous marriage and who presented with a primary complaint of recurrent neonatal seizures.
Authors and Affiliations
Panda K, Mishra N R
Magnetic resonance imaging brain findings of pediatric HIV cases and its correlation with clinical and immunological stages of the disease: A study from a tertiary care center of Rajasthan
Objective: To study the magnetic resonance imaging (MRI) brain findings in pediatric HIV patients and to correlate them with clinical and immunological staging. Methods: This study was conducted in the Department of Pedi...
Clinicoetiological profile of neonatal seizures in a tertiary care hospital
Background: Seizure is one of the most frequently observed clinical sign in neonatal period and may be the only sign of a central nervous system disorder. Its recognition is of paramount importance and a newborn with sei...
Renal nuclear isotope study using dimercaptosuccinic acid in evaluating renal parenchymal changes in urinary tract infection in children
Background: Urinary tract infections (UTI) are among the most common diseases in childhood. The diagnosis and management of complicated UTI are difficult. The renal cortical scintigraphy using dimercaptosuccinic acid (DM...
Are we still misdiagnosing clubfoot? A study of non-clubfoot cases labeled or referred as clubfoot from primary care centers in Uttarakhand
Background: Clubfoot is a congenital disorder identifiable with the clinical assessment itself, provided the knowledge of key features is sound. Several disorders affecting the foot and lower limb that present with crook...
Preparedness of nurses to work in neonatal intensive care unit in a selected tertiary care facility: An observational study
Background: Neonates admitted in neonatal intensive care units (NICUs) require specialized neonatal nursing care. Objective: The objective of this study was to generate evidence on quality of neonatal nursing by assessin...