Mbb Shelf Pathologies Already Passed

Bacterial Meningitis {Ans: inflammation of the protective membranes covering the brain and spinal cord caused by various types of bacteria; CSF findings: increased opening pressure, increased PMNs, increased protein, decreased sugar}Dandy-Walker Syndrome {Ans: Agenesis of cerebellar vermis with cystic enlargement of 4th ventricle (fills the posterior fossa). Associated with hydrocephalus and spina bifida}Neurofibromatosis I (von Recklinghausen's disease) {Ans: Café-au-lait spots, Lisch nodules (pigmented iris hamartomas) Autosomal dominant - mutated NF1 gene on chromosome 17.}Rett disorder {Ans: X-linked disorder seen almost exclusively in girls (affected males die in utero or shortly after birth). Symptoms usually become apparent around ages 1-4, including regression characterized by loss of development, loss of verbal abilities, mental retardation, ataxia, stereotyped hand-wringing, breathing abnormalities.}Parinaud Syndrome {Ans: Paralysis of conjugate vertical gaze due to lesion in superior colliculi (e.g. pinealoma) - suppressed light reflex also possible}Angelman's syndrome {Ans: Maternal allele is not expressed. Mental retardation, seizures, ataxia, inappropriate laughter. Genetic component on component 15.}