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Table 1 Clinical findings of adult OTCD patients with fatal encephalopathy

From: Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment

  Pt 1 (M) Pt 2 (M) Pt 3 (M) Pt 4 (M) Pt 5 (F)
ACUTE EPISODE  
Age at fatal acute episode 45 y 44 y 21 y 66 y 34 y
Duration of fatal episode 9 d 30 d 15 d 5 d 22 d
Duration of coma 7 d 1 d (first coma); 7 d (second coma) 12 d 2 d 20 d
FAMILY HISTORY OF METABOLIC DISORDERS Negative Negative Negative Negative Negative
PAST MEDICAL HISTORY Cholecystectomy; Crohn disease; Carpal tunnel syndrome; Sciatica Chronic Hepatitis B with fluctuating hypertransaminasemia and prothrombin deficiency Negative Hypertension; Colon cancer (colectomy and oxaliplatin and capecitabine drugs); Hiccup after chemotherapy Drowsiness during menstruation
DIET PRACTISE Regular Vegetarian Diet rich in vegetables Diet rich in vegetables Regular
PROBABLE TRIGGERING EVENT Cortisone therapy for joint pains Diet change and poor feeding (8 kg lost in a month) after dental surgery Diet change: a meal of fish in a Chinese restaurant Chemotherapy (Oxaliplatin, Capecitabine) Infertility hormone therapy and ICSI-ET, but without an ongoing pregnancy
MISDIAGNOSIS AT ONSET Depression; Unspecified hepatopathy Infectious disease; Intestinal pseudo-obstruction; Portosystemic shunts Poisoning; Infectious diseases; Drug abuse Poisoning; Ischemia; Cancer; Hepatitis Narcolepsy; Cancer
SIGN AND SYMTOMS OF ACUTE EPISODE  
Abdominal pain/Vomiting No/Yes Yes/Yes Yes/Yes No/No No/No
Headache/Vertigo Yes/Yes No/Yes No/No No/Yes No/No
Fever No Yes No No Yes
Food refusal Yes Yes No No No
Seizures No Yes No Yes Yes
Hepatomegaly No No No Mild No
Consciousness disturbances Confusion; Drowsiness; Coma (2 d after onset) Irritability; Confusion; Coma lasting 24 hours (5 d after onset); Subsequent coma (20 d after) Confusion; Drowsiness; Coma (3 d after onset) Slurred speech; Confusion; Hallucinations; Drowsiness; Coma (3 d after onset) Drowsiness; Coma (2 d after onset)
  1. Abbreviations: M male, F female, y years, d days, ICSI-ET intra cytoplasmatic sperm injection - embryo transfer.