The first clinical report on DOCK7 associated phenotype was done by Perrault et al. (2014) in three girls from two nonconsanguineous families. Tonic, myoclonic seizures and later epileptic spasms evolving to drop attacks, focal seizures or tonic clonic seizures were resistant to antiseizure drugs and ketogenic diet. EEG showed focal abnormalities at onset and later hypsarthymia and multifocal epileptiform abnormalities, consecutively occured. Neurodevelepment and cognitive functions were severely retarded.
Four cases, one pair of adult siblings were reported in 2019 and 2020. Clinical features and prognosis is similar to initial reported cases, except the Turkish boy, whose epilepsy has nonencephalopathic features with single type of seizure starting at 3.5 months and improving after 13 months of age.
Facial dysmorphic features are brachycephaly, narrow forehead, low anterior and posterior hairlines, protruding and low-set ears, wide and anteverted nasal tip, full cheeks and periorbital fullness, long eyelashes, periorbital fullness, telecanthus, a broad nasal tip, and anteverted nares, smooth and short philtrum and thin upper lip, and highly arched palate.
Cortical blindness has been reported in all cases with progressive improvement in some of them. Lack of ocular reaction to visual stimulus and optokinetic nystagmus with normal pupillary reaction and fundoscopy have been diagnosed in early months olf life. Flash evoked visual potentials showed normal waveform of markedly decreased amplitude with prolonged latencies in occasion.
Facial dysmorphic features are normo-brachycephaly, narrow forehead, low anterior and posterior hairlines, protruding and low-set ears, wide and anteverted nasal tip, full cheeks and periorbital fullness, long eyelashes, periorbital fullness, telecanthus, a broad nasal tip, anteverted nares, smooth and short philtrum, thin upper lip, and highly arched palate.
Typical radiological features are prominent pontobulbar sulcus, pontine hypoplasia, and thin corpus callosum, increased signal and atrophy in the white and gray matter of the occipital lobe. Additionally, absence of interventricular septum, interdigitation of gyri across the interhemispheric fissure, thin corpus callosum, dilation of lateral ventricles, pachygyria and focal atrophy of occasional cerebellar folia were reported.
DOCK7