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3 patient data entries collated from reference Naviaux and Nguyen, 2004. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 645 | Nonsense
mutation:
E873X
| A467T2
Nonsense
mutation:
E873X
| His speech and motor development were normal until 19 months of age when he developed an episode of encephalopathy, ataxia, and hypertonia associated with an acute febrile illness. At 30 months, he developed a refractory focal myoclonic seizure disorder. His terminal admission was associated with a documented Rotavirus infection. At this time, he was noted to have cortical blindness, epilepsia partialis continua, and acute liver failure (hepatic failure). lactic acidemia. He was well until 19 months of age, when he experienced an acute febrile illness with anorexia, vomiting, and diarrhea. This was complicated by acute truncal ataxia, lethargy, and hypertonicity. | | - | movement disorder (ataxia) | |
| | n/a | 1.58 | 3.5 | | 646 | Nonsense
mutation:
E873X
| A467T2
Nonsense
mutation:
E873X
| He had been well and developmentally normal until 15 months when he suffered 3 days of a diarrheal illness and required admission for new ataxia and encephalopathy. On the day of admission, he developed status epilepticus and was intubated for 3 weeks for aspiration pneumonia. He developed progressive hepatic failure and cortical blindness. He remained in a vegetative state until he died. Autopsy showed massive cerebellar and cerebral atrophy. | | - | movement disorder (ataxia) | |
| | n/a | 1.25 | 1.3 | | 647 | Nonsense
mutation:
E873X
| A467T2
Nonsense
mutation:
E873X
| At 11 months, she developed otitis media and shortly thereafter she was admitted to the intensive care unit and intubated and treated for 2 days for apnea associated with an episode of absence status epilepticus. Brain computed tomography at that time was normal. Her gait was ataxic after recovery, and she had bouts of epilepsia partialis continua, initially involving the left hand. At 16 months, she suffered another episode of status epilepticus requiring intubation for airway protection and ventilatory support. Head control was lost permanently after this episode. she was found to have cortical blindness, and brain magnetic resonance imaging showed marked cerebral atrophy without focal abnormalities. A liver biopsy showed chronic and acute liver disease with micronodular cirrhosis, hepatocyte dropout, microvesicular fat, and bile ductular proliferation. The diagnosis of Alpers’ syndrome was made at that time. refractory partial seizures, scoliosis, quadriparesis, tracheomalacia, and osteoporosis and was aphasic. | | | n/a | 0.9 | 10 |
1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details.
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