Facial dysmorphism and Limb abnormalities of Fetal Valproate Syndrome.

A neonate born to nonconsanguineous parents was evaluated for dysmorphic features. The neonate was born at term by normal vaginal delivery. The mother has had epilepsy for 12 years and has been on sodium valproate (700 mg/day) since conception and throughout pregnancy.

The Challenge of Severe Acute Malnutrition in Inborn Errors of Metabolism: Does Medical Food Alone Suffice?

Glutaric aciduria type 1 (GA-1) is a treatable inborn error of metabolism caused by glutaryl-CoA dehydrogenase deficiency. This enzyme deficiency leads to accumulation of glutaric acid, 3-hydroxy glutaric acid, and glutaconic acid which are potentially neurotoxic. Patients with GA-1 have characteristic clinical and neuroimaging features that help us to clinch the diagnosis.

Ptosis, Visual Blurring, and Multiple Cranial Nerve Tumors: Do We Know the Culprit.

Neurofibromatosis type 2 (NF2) is a monogenic condition caused by mutations in the gene. Examination of skin and eyes and parental screening play a key role in the diagnosis of pediatric NF2. We report a four-year-old boy, who presented sub-acutely with unilateral vision loss, ptosis and exotropia with a positive family history of NF2.

Charcot-Marie-Tooth Disease Type 4C and Autosomal Dominant Heterozygous Ichthyosis Vulgaris, with Bilateral Hearing Loss: A Novel Association with Review of Literature.

A 3-year-old boy, firstborn to nonconsanguineous parents, presented with motor development delay and floppiness of bilateral lower limbs since birth. No significant family history presented at time of check-up. He could stand with support, eat with a spoon without spillage, and speak in two-word sentences.

Burden of Attention Deficit Hyperactivity Disorder (ADHD) in Indian Children: A Systematic Review and Meta-Analysis.

Objective: To determine the pooled prevalence of attention deficit hyperactivity disorder (ADHD) in Indian children.

Methods: The searching of published literature was conducted in different databases (PubMed, Ovid SP, and EMBASE). The authors also tried to acquire information from the unpublished literature about the prevalence of ADHD.

Marked Facial Weakness, Ptosis, and Hanging Jaw: A Case with -Related Congenital Centronuclear Myopathy.

Congenital myopathies are an expanding spectrum of neuromuscular disorders with early infantile or childhood onset hypotonia and slowly or nonprogressive skeletal muscle weakness. -related myopathies are the most common and frequently diagnosed class of congenital myopathies. Malignant hyperthermia susceptibility and central core disease are autosomal dominant or de novo disorder, whereas multiminicore, congenital fiber type disproportion and centronuclear myopathy are autosomal recessive disorders.

Thick corpus callosum: An underrecognised but important diagnostic clue.

Neurofibromatoses are inherited tumour-suppressive disorders that are characterised by multiple neoplastic and non-neoplastic tumours. Neurofibromatosis type 1 is a common disorder with multiple neurofibromas with widespread complications. We here report a seven-year old boy presenting with first episode of seizure and multiple café-au-lait macules but neuroimaging revealed corpus callosal changes without any focal areas of signal intensities.