Pyruvate Kinase Deficiency

Micro Pathology Treatment Discussion A 6-month-old male is brought to a pediatrician for evaluation of listlessness, lethargy, and fixed gaze. Excessive extensor startle response to noise ( HYPERACUSiS) child is sleepy and hypotonic with poor head control and a fixed gaze appears to have translucent skin cherry-red macular spot found on funduscopic exam. Diffuse gliosis cerebral and macular degeneration up to 50 increase in brain weight (due to deposition of sphingolipid). Neuronal swelling...

Alpha Reductase Deficiency

Micro Pathology Treatment Discussion A 43-year-old white male comes to the emergen cy room complaining of severe retro-orbital headache (behind his eyes) along with blurred vision. He also complains of weakness over the past few months and an increase in hat size as well as an inability to wear his wedding ring due to growth in finger width). His family also notes a coarsening of his facial features and deepening of his voice. VS hypertension (BP 150 100). PE skin thick and oily prominent...

Irondeficiency Anemia

Imaging Gross Pathology Micro Pathology Treatment A newborn male in the normal nursery is noted to be cyanotic the pediatrician is called even though the child does not seem to be in respiratory distress. That morning he had undergone circumcision (a benzocaine ointment was used). Cyanotic lungs clear and well ventilated heart sounds rhythmic no murmurs heard no cardiopulmonary problems evident. CBC Lytes normal. Platelets, LFTs, BUN, and creatinine normal. ABGs P02 normal. Methcmoglobin level...

Dehydration With Metabolic Alkalosis

Imaging Gross Pathology Micro Pathology Treatment A 27-year-old white male complains of excessive thirst ( POLYDIPSIA) and increased urination ( POLYURIA) with very diluted urine. The patient drinks several liters of water every day. He was well until this time. The patient also admits to frequent urination (including nocturia) of large volumes that are clear and watery. VS slight tachycardia. PE mild dryness of mucous membranes visual field testing normal no papilledema, pupils equal. Low...

Phenylketonuria Biochemistry

Imaging Gross Pathology Micro Pathology A 7-year-old female presents with anxiety, dizziness, sweating, and nausea following brief episodes of exercise. These symptoms are relieved by eating and do not occur if the patient is frequently fed small meals. Hypoglycemia following brief fasting alanine fails to increase blood sugar fructose or glycerol administration restores blood glucose to normal. Liver biopsy for enzyme assays reveals deficiency of phosphoenolpyruvate carboxykinase, an enzyme of...