Is there anything on the real exam as long as this?
An eight-year-old girl in a stuporous state was brought to the hospital emergency department. The girl's mother related that the child had been sick for approximately one week with an upper respiratory infection, but that she seemed to be improving. On the morning of admission, her condition worsened and she was brought to the office. Bronchitis was diagnosed, and erythromycin was prescribed. Several hours later, she began vomiting, and shortly thereafter became very agitated and began screaming incoherently. She had received no aspirin or other products containing salicylate. The patient was lethargic on presentation to the emergency department. Her eyes were open but she made no purposeful movements and did not seem to regardher environment. Painful stimuli wouldelicit a shrill, catlike scream. Blood pressure was 97/58 mm Hg; pulse, 122; respiratory rate, 24; and temperature, 97.5°F (36.4°C). Her skin was pale and cool, and her neck was supple. Examination of her heart, lungs, abdomen and reflexes was unremarkable. A computed tomographic (CT) scan ofthe head was normal. Fingerstick blood glucose measurements were less than 40mg per dL (2.2 mmol per L) in spite of three boluses of 25 percent dextrose. On admission, laboratory values showed. a white blood cell count of 10,700 per mm(10.7 X 10° per L) with 90 percent poi) ..polymorphonucleocytes and 2 percent band forms.Sodium was 130 mEq per L; potassium, 7.0mEq per L; chloride, 94 mEq per L; and carbon dioxide content, 21 mEq per L.Plasma glucose was 45 mg per dL (2.5mmol per L); and blood urea nitrogen, 44 mg per dL (15.7 mmol per L); and creatinine, 0.9 mg per dL (79.6 umol per L). A urine toxicology screen was negative. Aspartate aminotransferase level was15,400 units per L, and alanine aminotransferase level was 1,225 units per L. Total bilinrbin was 0.5 mg per dL (8.55 umol per L) and ammonia was 141 umol per L.Prothrombin time was elevated at 38.9 sec-onds (control value: 11.6 seconds, equiva- lent to International Normalization Ratio of10) and activated partial thromboplastin time was 46 seconds. Albumin level was1.2gperdL(12gperL). A lumbar puncture was performed andthe cerebrospinal fluid was clear, with 72 red blood cells per mm and three white blood cells per mm? Cerebrospinal fluid glucose was 28 mg per dL (1.55 mmol perL) and protein was 22 mg per dL (0.22 gper L). No organisms were seen on the CSF Gram stain. Arterial blood gases showed a pH of 7.5; Pcoz, 22 mm Hg; P0,, 112 mm I-lg; bicar- bonate level, 21 mEq per L; and oxygen saturation, 96 percent on room air.
Question: which inborn errors of metabolism most closely reflect the case illustrated?
A)deficiency in ornithine transcarbamoylase
B)McArdle's
C)deficiency in lactate metabolism
D)PKU
Source:http://www.reyessyndrome.org/pdfs/Recognizing_a_Case_of_Reyes_Syndrome.pdf
An eight-year-old girl in a stuporous state was brought to the hospital emergency department. The girl's mother related that the child had been sick for approximately one week with an upper respiratory infection, but that she seemed to be improving. On the morning of admission, her condition worsened and she was brought to the office. Bronchitis was diagnosed, and erythromycin was prescribed. Several hours later, she began vomiting, and shortly thereafter became very agitated and began screaming incoherently. She had received no aspirin or other products containing salicylate. The patient was lethargic on presentation to the emergency department. Her eyes were open but she made no purposeful movements and did not seem to regardher environment. Painful stimuli wouldelicit a shrill, catlike scream. Blood pressure was 97/58 mm Hg; pulse, 122; respiratory rate, 24; and temperature, 97.5°F (36.4°C). Her skin was pale and cool, and her neck was supple. Examination of her heart, lungs, abdomen and reflexes was unremarkable. A computed tomographic (CT) scan ofthe head was normal. Fingerstick blood glucose measurements were less than 40mg per dL (2.2 mmol per L) in spite of three boluses of 25 percent dextrose. On admission, laboratory values showed. a white blood cell count of 10,700 per mm(10.7 X 10° per L) with 90 percent poi) ..polymorphonucleocytes and 2 percent band forms.Sodium was 130 mEq per L; potassium, 7.0mEq per L; chloride, 94 mEq per L; and carbon dioxide content, 21 mEq per L.Plasma glucose was 45 mg per dL (2.5mmol per L); and blood urea nitrogen, 44 mg per dL (15.7 mmol per L); and creatinine, 0.9 mg per dL (79.6 umol per L). A urine toxicology screen was negative. Aspartate aminotransferase level was15,400 units per L, and alanine aminotransferase level was 1,225 units per L. Total bilinrbin was 0.5 mg per dL (8.55 umol per L) and ammonia was 141 umol per L.Prothrombin time was elevated at 38.9 sec-onds (control value: 11.6 seconds, equiva- lent to International Normalization Ratio of10) and activated partial thromboplastin time was 46 seconds. Albumin level was1.2gperdL(12gperL). A lumbar puncture was performed andthe cerebrospinal fluid was clear, with 72 red blood cells per mm and three white blood cells per mm? Cerebrospinal fluid glucose was 28 mg per dL (1.55 mmol perL) and protein was 22 mg per dL (0.22 gper L). No organisms were seen on the CSF Gram stain. Arterial blood gases showed a pH of 7.5; Pcoz, 22 mm Hg; P0,, 112 mm I-lg; bicar- bonate level, 21 mEq per L; and oxygen saturation, 96 percent on room air.
Question: which inborn errors of metabolism most closely reflect the case illustrated?
A)deficiency in ornithine transcarbamoylase
B)McArdle's
C)deficiency in lactate metabolism
D)PKU
Source:http://www.reyessyndrome.org/pdfs/Recognizing_a_Case_of_Reyes_Syndrome.pdf
