a2zmedicalnote

Febrile Seizures   What is febrile seizure? Febrile seizures are seizures that are caused by a sudden spike in body temperature with fevers greater than 38C or 100.4F, with no other underlying seizure-provoking causes or diseases such as the central nervous system (CNS) infections, electrolyte abnormalities, drug withdrawal, trauma, genetic predisposition or known epilepsy. There shouldn't be any prior history of afebrile seizure as in such case the fever might be the cause of breakthrough seizure. however , there are no consensus regarding inclusion or exclusion of children with neurodevelopment disorder such as Autism spectrum disorder which has the predisposition to seizures. Age of presentation: As per American academy of Pediatrics: 6 months to 5 years (however cases unto 7 years of age have been diagnosed as FS) As per earlier definition ILAE - infant up to age of 1 month can be diagnosed as FS. As per NIH (National Institute of Health) children between 3 months and 5 years ...

  Also known as agyria Some 65% are associated with mutations in the LIS1 gene. Smooth brain with no or little gyrus in the cerebral cortex It is due to incomplete or complete failure of neuronal migration during the 12th to 24th postmentrual weeks Microcephaly, ventriculomegaly, wide Sylvian fissures, complete or partial agenesis of the corpus callosum 2 types of Lissencephaly A. Type 1 is associated with facial dysmorphism sometimes with deletion of 17p chromosome known as Miller Dicker syndrome B. Type 2 is associated with hydrocephaly and dysgenesis of cerebellum - Walkar-warburg syndrome Prenatal diagnosis of lissencephaly Transvaginal ultrasound - imaging of the surface of the cerebral hemispheres and should facilitate in-utero diagnosis. Prenatal diagnosis of lissencephaly probably cannot be made reliably until 26 to 28 postmenstrual weeks, when the normal gyri and sulci become well defined. Up to this time, the normal fetal brain has a smooth appearance

Congenital unilateral or bilateral paralysis of VII and VI nerve  Hypoplasia of  nerve nuclei in the brainstem results in the condition Other cranial nerves like III, IV, V,VIII may also be involved  Exact cause is unknown.  May have - foot abnormalities like club foot  Mental retardation may be present   

What type of disease is SMN? It is a degenerative disorder of spinal motor neuron. What causes SMN?   Homozygous mutation of SMN1 gene on exon 7 of chromosome 7 AR and X linked are also present but rare What is the most common casue of infant mortality among AR disorders? Spinal Muscular atrophy Which is the most prevalent AR disorder at birth? Cystic Fibrosis f/b SMA What is the function of SMN1? SMN protein appears to play a role in mRNA synthesis in motor neurons and also may inhibit apoptosis. What determines the activity of SMN1 gene & phenotypic expression of SMA? Modifying gene called SMN2 Loss of the SMN1 protein is partially compensated by SMN2 protein synthesis, a mechanism that explains some but not all of the phenotypic variability in patients with SMA. Disease severity in SMA generally correlates inversely with SMN2 copy number, which varies from 0 to 8 in the normal population, and to a lesser degree with the level of SMN prot...