Table 1 Clinical findings of adult OTCD patients with fatal encephalopathy

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)