Objective: To determine the prevalence of undernutrition in children with cerebral palsy and to compare subjective and objective methods of nutritional assessment.
Methods: This was a hospital based analytical observational study in which 180 children of cerebral palsy, aged 1-12 y, attending tertiary level hospital, Jaipur from March, 2012 through March, 2013 were included. Subjective assessment was done by questionnaire (Subjective Global Nutritional Assessment; SGNA) in which questions related to nutrition history and physical examination, signs of fat, muscle wasting and edema was done while objective assessment was done by weight, height and triceps skinfold thickness (TSFT) measurements.
Proteus syndrome (PS) is an extremely rare and complex disorder. Approximately 200 cases have been reported, and it seems to affect people of all ethnic and racial groups. PS is characterized by segmental overgrowth of multiple tissues and organs including vascular malformations, lipomatous overgrowth, hyperpigmentation, and various types of nevi.
View Article and Find Full Text PDFX-linked lissencephaly with ambiguous genitalia is a rare and recently described syndrome. We report a neonate presenting with the classical features of the syndrome which includes lissencephaly, agenesis of the corpus callosum, intractable epilepsy of neonatal onset, acquired microcephaly, and male genotype with ambiguous genitalia. The baby was managed aggressively with antiepileptics.
View Article and Find Full Text PDFAim And Objective: Cerebral palsy (CP) is the most common motor disability in childhood. This study aimed to describe clinical spectrum, comorbidities, and risk factors associated with CP children.
Materials And Methods: This hospital-based observational study was conducted in tertiary level hospital in Jaipur including 180 CP children aged 1-12 years, attending the Paediatric Neurology Outdoor and Child Development Centre.
Griscelli syndrome (GS) is a rare autosomal recessive disorder resulting in pigmentary dilution of the skin and hair with variable phenotypes depending upon subtypes. Mutations in 3 distinct genes are responsible for 3 subtypes (GS1, GS2, and GS3) of GS respectively. GS subtype 2 commonly develops hemophagocytic lymphohistiocytosis (HLH) and recurrent infections due to immunodeficiency.
View Article and Find Full Text PDFIntractable Rare Dis Res
February 2017
Gomez-Lopez-Hernández syndrome (GLHS) is a rare neurocutaneous syndrome characterized by a triad of findings: partial alopecia of the scalp, trigeminal anaesthesia, and rhombencephalosynapsis. GLHS is also known as cerebello-trigeminal-dermal dysplasia. Besides this triad, a number of varying traits have been described in 35 previously reported cases.
View Article and Find Full Text PDFIntractable Rare Dis Res
November 2016
Abdominal pain is a very common symptom in all age groups but retroperitoneal fibrosis is a rare differential diagnosis suspected in young patients presenting with nonspecific abdominal pain and symptoms of obstructive uropathy. Presented here is a case of a 16-year-old boy who presented with symptoms of persistent abdominal pain and a previous history of swelling in the left leg. A computed tomography (CT) scan suggested retroperitoneal fibrosis and an exploratory laparotomy and histopathological examination were performed for definitive diagnosis.
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