Subjective Global Nutritional Assessment: A Reliable Screening Tool for Nutritional Assessment in Cerebral Palsy Children.

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. RESULTS: In this study prevalence of undernutrition by subjective method (SGNA) was 76.67% while by objective measurement (weight, height, TSFT) was 48.89%, 77.78% 35.18% respectively. There was fair to moderate agreement between the SGNA and objective assessments including weight and height (k = 0.341, p = 0.000; k = 0.337, p = 0.000 respectively) while for TSFT agreement between both methods was poor (k = 0.092, p = 0.190). In the index study, sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of SGNA was for weight was 95%, 37%, 56%, 90%; for height 84%, 50%, 85%, 47%; for TSFT 81%, 30%, 38%, 75% respectively. CONCLUSIONS: The prevalence of undernutrition is high in cerebral palsy children. SGNA can be a reliable tool for assessing nutritional status in children with cerebral palsy and is a simple, comprehensive, noninvasive, and cost-effective tool for screening undernutrition in children of cerebral palsy.

Clinical Spectrum, Comorbidities, and Risk Factor Profile of Cerebral Palsy Children: A Prospective Study.

AIM 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. A detailed history of antenatal, natal, and postnatal events taken and thorough examination was performed to stratify children in proper topographical and physiological classification. RESULTS: Mothers of 47.7% CP children were primigravida and 17.7% mothers had anemia during pregnancy. Among natal factors, asphyxia contributed to maximum cases (52.2%). Seizure in postnatal life was the second most common risk factor for CP after asphyxia. Spastic CP (84.4%) was the most common physiological type, and quadriplegia (56.6%) was the most common topographical type observed in this study. Intellectual disability (47.7%) followed by epilepsy (41.6%) was the most common comorbidity. CONCLUSION: Even with the advancement of health-care system, asphyxia is the most common risk factor, and spastic quadriplegia is the most common type of CP. There is still a need of improving the health facilities to overcome this costly and common neuromotor disability. Widespread knowledge of common risk factors that can predispose to CP can prevent the CP development to some extent and knowledge of clinical spectrum, and comorbidities can improve their targeted treatment which can improve their growth and social participation.

A Neonate with X-linked Lissencephaly with Ambiguous Genitalia.

X-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. Early clinical suspicion of the syndrome can prevent future such occurrences in the family through genetic counseling.

Proteus Syndrome with Neurological Manifestations: A Rare Presentation.

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. We hereby present a 7-year-old boy who presented with seizures and overgrowth of one-half of the body. Although classical physical features have been described, epilepsy and other neurological manifestations are rarely reported features of PS. Early detection of association of epilepsy and hemimegalencephaly with PS can prevent/minimize the neurological complications, disability, morbidity, and mortality.

Gomez-Lopez-Hernández syndrome: First reported case from the Indian subcontinent.

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. Reported here is a case of a four-year-old boy, born out of consanguineous marriage, presenting with the classic triad of findings, i.e. partial alopecia of the scalp, trigeminal anaesthesia, and rhombencephalosynapsis. To the extent known, this is the first case of GLHS reported from India. If a child presents with alopecia and rhom-bencephalosynapsis, GLHS should be considered in the differential diagnosis. A host of studies can be used to determine the exact pathogenesis, and confirming the diagnosis of GLHS is an important step in prenatal testing for at-risk pregnancies.

Griscelli syndrome subtype 2 with hemophagocytic lympho-histiocytosis: A case report and review of literature.

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 MYO5A, RAB27A, MLPH 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. We hereby report a 20 month old male child presenting with silvery gray hair, hypomelanosis and features of hemophagocytosis. The diagnosis of a type 2 GS was made in response to a set of clinical features: hypopigmentation of skin and the silvered reflection of the hair, absence of psychomotor retardation, the occurrence of an accelerated phase (hemophagocytosis) and, above all, a pathognomonic appearance by microscopic examination of a hair. The absence of giant granules in the nucleated cells made it possible to eliminate Chediak-Higashi syndrome, which shares a close clinical spectrum with GS. This case promotes awareness about this rare case of GS as a high indicator of suspicion about this potentially fatal condition and aids in prompt diagnosis and foresees complications. Early bone marrow transplant is the only curative treatment for GS-2.

Presentation of idiopathic retroperitoneal fibrosis at a young age: A rare case report.

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. This case report is intended to promote awareness of retroperitoneal fibrosis in young patients among health care providers.