Disease #00400 (EECB (encephalopathy, epileptic, cortical blindness (EECB)))

Official abbreviation EECB
Name encephalopathy, epileptic, cortical blindness (EECB)
OMIM ID -
Inheritance -
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 1 gene DOCK7
Associated tissues -
Disease features -
Remarks -
Date created 2014-06-06 10:10:13 +02:00 (CEST)
Date last edited 2015-12-07 07:11:25 +01:00 (CET)


Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00016938 - PubMed: Perrault 2014 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents; sister of FamAPatII2 F no Canada French canadian - - - Antiepileptica, Trial ketogenic diet EECB Born at term, uneventful neonatal course, aortic supravalvular stenosis and bicuspid valve (operated on 4m); 2-4m:tonic seizures; 1y:infantile spasms, disappeared with the administration of adrenocorticotropic hormone; 11m:pattern consistent with hypsarrhythmia; multifocal epileptic activity; Currently:normal visual pursuit, more difficulty following objects in upper visual fields; 20m:walk, gross motor skills deteriorated over last few years, get up by herself, cannot walk without help, cannot eat by herself, does not point or use hands to communicate, can hit objects against each other, does not speak, can understand a few simple commands, can smile, not in a social context, displays limited visual contact. Overall, nonverbal interactions are suggestive of autism. 19m: OFC 45cm, low anterior hairline, some periorbital fullness, telecanthus, and a broad nasal tip with anteverted snares DOCK7 DOCK7 2 2 Marianne Vos (LOVD-team)
00016939 - PubMed: Perrault 2014 sister of 24814191-FamAPatII1 F no Canada French canadian - - - adrenocorticotropic hormone, antiepilleptica, ketogenic diet EECB 2-4m: Tonic seizures; show myoclonus (50/day), different types of seizures, including myoclonus, partial complex seizures with rotation of the head, drop attacks, and tonic seizures; 2m:epileptic activity in left posterior quadrant and in right temporoparietal region, multifocal epileptic activity;Currently: follow moving object, not see well enough to play with toys;she can run but cannot jump in place. She can eat with a spoon and has a pincer grasp but cannot point to objects. She can say about 30 words and associate two words. Designate body parts on demand and understand simple commands. 2y4m: Walk; 8m: OFC 42,2cm DOCK7 DOCK7 2 1 Marianne Vos (LOVD-team)
00016940 - PubMed: Perrault 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no France French - - - Antiepelleptic drugs EECB 6m-absence of ocular reaction to visual threat, normal pupillary reflex, and normal aspect of the fundus.; first seizures noticed, characterized by eye revulsion and rhythmic arm and body movements.; 7,5m: left occipital epileptic, short absences with immobility, moderate body sagging, and unreactiveness to external stimuli; 1y10m: started to walk, no new skills acquired; Currently: wandering eye movements and a complete absence of reaction to visual threat and light stimulation. despite administration antiepileptic drugs experiences repeated tonic-clonic seizures, walk without help in known environments, limited speech skills to repeating the last three words of sentences, understands simple commands, can smile, but not in a social context. Uses hands to grasp objects, but not to point or communicate. Can bring a spoon to the mouth, but is unable to eat by herself. Manifests hand, trunk, and head (screwing and unscrewing movements) stereotypies. Since neonatal: Weight and size 2–3 SDs, OFC 1 SD; dysmorphic facial features, bitemporal narrowness, a low anterior hairline, thick and duplicated eyebrows, synophrisis, long eyelashes, enophthalmia, large prominent nasal root, bulbous nasal tip, thick, hammered helix, thick earlobes, short philtrum, full lips, everted lower lip, spaced incisors DOCK7 DOCK7 2 1 Marianne Vos (LOVD-team)
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