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2 patient data entries in database for mutation S1080I. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 426 | S1080I3
| L79F
| Polyendocrinopathy with adrenocortical insufficiency and hypothyroidy, refractory generalized status epilepticus, cerebral white matter lesions. This young girl had suffered from migraines and lack of coordination since early childhood. At 7 years of age, she developed a multiendocrine disease with adrenocortical insufficiency and hypothyroidy. At 8 years of age, she developed a refractory status epilepticus followed by coma. Brain magnetic resonance imaging (MRI) showed white matter involvement. Healthy parents were both heterozygous carriers. | | | 8 | 8 | 8 | Rouzier et al, 2013; [view data] | | 427 | S1080I3
| L79F
| R-EPC (refractory epilepsia partialis continua), cerebellar ataxia, ptosis, symmetrical signal abnormalities of thalami and parieto-occipital cortex. Suffered from lack of coordination since childhood. At 8 years of age, she developed left partial seizures leading to refractory EPC during an episode of asthenia and headache. No endocrine dysfunction was noticed. A few weeks later, clinical examination revealed cerebellar ataxia, slight ptosis, left hemiparesis and lateral homonymous hemianopsia. After initial improvement, she developed contralateral EPC with cortical blindness. MRI showed initially lesions of right thalamus and right parieto-occipital cortex, and then bilateral and symmetrical lesions. Healthy parents were both heterozygous carriers. | | - | movement disorder (ataxia) | |
| | 8 | 8 | n/a | Rouzier et al, 2013; [view data] |
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. Number of displayed patient cases: 2
Avg age of onset in displayed cases: 8.0
Std dev in onset in displayed cases: 0.0
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