Toxic and Metabolic Disorders Flashcards
A 6 month old child presents with delayed motor development and dies within the second year. Shown below is the biopsy of the child’s brain. What disease did the child have? What deficiency did it have? Describe the pathogenesis. What changes occur in the eye? Describe the biopsy below. What other histologic changes are observed?
Tay-Sachs Disease; Hexosaminidase A deficiency; Ganglioside accumulates w/i CNS neurons; Macular transparency increases and cherr-red spot in macula is observed. Lipid droplets w/i cytoplasm; Lipid withink lysosomes of whorled “myelin figures” (below)
A patient presents with an autosomal recessive disturbance in glycosaminoglycan metabolism resulting in intraneuronal accumulation of mucopolysaccharaides. What is the likely disease?
Hurler Syndrome
An infant fails to thrive. On autopsy, it is found thawt the patient has an autosomal recessive genetic deficiency of glucocerebrosidase and there is an accumulation of glucocerebroside. What disease did the infant die from?
Gaucher Disease
An infant fails to thrive and on autopsy is found to have an autosomal recessive disorder increasing sphingomyelin storage due to a lack of sphingomyelinase. What is the Dx?
Niemann-Pick Disease
A child develops psychomotor retardation, progressiv dementia, paralysis, and eventually died. The patient was found to have an astrocytic storage disease. What mutation did the child have? What are the eosinophilic bodies below? What is the Dx?
GFAP mutation, Rosenthal bodies, Alexander Disease
A patient has high levels of phenylalanine in the blood and an IQ below 50. The patient’s mental problems could have been prevented. What disease does this patient have? What is the mutation? What would the treatment have been?
Phenylketonuria; Autosomal recessive deficiency in Phenylalanine Hydroxylase; Restrict dietary phenylalanine!
A middle-aged patient presents psychosis and hyperkinetic disorder. Exam reveals Kayser-Fleischer ring on slit lamp examination and liver dysfunction. What is your Dx? What mutation? What is another name for this disorder?
Wilson disease (disorder of copper metabolism); WD gene; hepatolenticular degeneration
What type of conidition does a patient likely have if EEG of the brain shows progressive slowing of cortical activity accompanied by periodic high-amplitude triphasic waves?
Metabolic Encephalopathy
An alcoholic patient is too quickly corrected for hyponatremia and expires. The autopsy is shown below. What is the Dx?
Osmotic Demyelination and Central Pontine Myelinolysis
An alcoholic patient expires. On autopsy, his brain shows hemorrhagic petechiae in the mamillary bodies and periventricular anterior thalamus. What condition did the patient likely have? Typical Syx? What was he deficient in? A patient with a similar history shows degeneration of neurons in medial-dorsal nucleus of the thalamus. What is the Dx?
Wernicke Syndrome; Impaired Short Term Memory, Ophthalmoplegia, Nystagmus; Thiamine (B1); Wernicke-Korsakoff Syndrome;
A vegan who works in a chemical plant that produces NO experiences a burning sensation in the soles of his feet, weakness in all four limbs and ataxia. What is the likely Dx?
B12 deficiency
An alcoholic experiences central necrosis of the corpus callosum. What condition does he have?
Marchiafava-Bignami Disease
A patient expires. At autopsy, bilateral liquefactive necrosis of the globus pallidus was found. What did the patient likely die from?
Carbon Monoxide Poisoning
A child presented to the ED with neurological deficits. The parents said the child was eating paint chips. What type of intoxication doe the child likely have?
Lead
A patient is found with N/V, diarrhea, hyperkeratosis, increased pigmentation of the soles and palms and Mees lines on the nails. What type of poisoning does the patient likely have?
Arsenic
