Create issue ticket

8,334 Possible Causes for Persistent Notochordal Canal, Seizure, Small Optic Disc

  • Optic Atrophy-Intellectual Disability Syndrome

    disc small and large excavation; MRI-brain normal - NHLRC2, NR2F1, PLAC1L, POF1B 6 1 Danielle Bosch 00039410 - PubMed: Bosch 2014, Journal: Bosch 2014, PubMed: Bosch 2016[databases.lovd.nl] They were likely seizures all along—just as I suspected.[tiktogram.com] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de]

  • Velocardiofacial Syndrome

    optic discs, posterior embryotoxon and tortous retinal vessels Congenital absence of nasolacrimal duct Hypocalcemia related to hypoparathyroidism Immune deficiency making[syndromespedia.com] Treatment was started only in one patient, with complete seizure control.[ncbi.nlm.nih.gov] […] of one or both eyeballs (microphthalmia), and twisted vessels in the optic disc • Rupture or protrusion in the groin or central abdominal region (inguinal or umbilical hernia[rarediseases.org]

    Missing: Persistent Notochordal Canal
  • Congenital Non-Progressive Ataxia

    Ocular findings in 21 cases published since Gillespie's initial description in 1965 include iris and foveal hypoplasia, nystagmus, and small optic discs with pigmentary retinopathy[ncbi.nlm.nih.gov] Benign hereditary chorea Benign infantile focal epilepsy with midline spikes and waves during sleep Benign infantile seizures associated with mild gastroenteritis Benign[se-atlas.de] Poor coordination, seizures, a small head, underdeveloped mid-face, a carp-shaped mouth, and autistic behavior are all characteristics of this disorder.[tsbvi.edu]

  • Septo-Optic Dysplasia

    A case of septo-optic dysplasia was proved by demonstrating the absence of septum pellucidum, small optic discs and hypothalamic-pituitary dysfunction at the age of three[ncbi.nlm.nih.gov] A 7-year-old boy was admitted for a general tonic-clonic seizure with severe hypoglycaemia (1.39 mmol/l).[ncbi.nlm.nih.gov] Ophthalmoscopic examination showed a small pale optic disc in the right eye; the optic disc of the left eye was normal.[ncbi.nlm.nih.gov]

    Missing: Persistent Notochordal Canal
  • Isolated optic nerve hypoplasia

    An overgrowth of retinal pigment epithelium surrounding the small optic disc gives rise to the “double ring sign”.[pediatricneurologybriefs.com] Associated features include developmental delay, seizures, visual impairment, sleep disturbance, precocious puberty, obesity, anosmia, sensorineural hearing loss and cardiac[patient.info] ONH is a nonprogressive congenital disc anomaly characterized by a small optic disc with a double-ring sign.[e-tjo.org]

    Missing: Persistent Notochordal Canal
  • Dementia

    Retinitis in these 11 eyes was characterized by peripheral involvement (no optic disc or macular involvement in 10 eyes), small lesion size ( 10% of retinal surface area in[jamanetwork.com] Electroencephalography demonstrated bifrontal slowing with left-sided emphasis, and captured two focal onset partial seizures with the clinical correlate of the syndrome described[ncbi.nlm.nih.gov] […] depression and anxiety accompanying the dementia symptoms of stroke, such as physical weakness or paralysis memory problems (although this may not be the first symptom) seizures[web.archive.org]

    Missing: Persistent Notochordal Canal
  • Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome

    Fundal examination revealed chorioretinal folds with an unusual appearance at the macula with optic disc crowding (Figs 1, 2, 3, 4, 5 ).[bjo.bmj.com] Onset of symptoms is usually between 5 and 10 years of age, when parents or physicians may notice a child has begun to develop vision problems or seizures. … Peroxisome Biogenesis[checkrare.com] notochordal canal syndrome 4 Cases 794 Saethre-Chotzen syndrome 3.0 BP * 300493 Sagliker syndrome 60 Cases 140969 Saldino-Mainzer syndrome 10 Cases 370938 Salt-and-pepper[azkurs.org]

  • Systemic Lupus Erythematosus

    disc swelling.[academic.oup.com] We found that APS was strongly associated with neurological manifestations and in particular with cerebrovascular diseases and seizures.[ncbi.nlm.nih.gov] In one series of 91 patients, 22 (24%) had seizures.[epilepsy.com]

    Missing: Persistent Notochordal Canal
  • Hypertensive Crisis

    This stage of retinopathy is characterized by the presence of choroidopathy, macular star, optic disc edema, and focal intraretinal peri-arteriolar transudates (FIPTs).[coavision.org] In this report, we present a case of Grade IV hypertensive side effect (hypertensive crisis and seizure) after a single dose of regorafenib.[ncbi.nlm.nih.gov] She was immediately treated with naloxone, but subsequently experienced hypertensive urgency, a short-duration tonic-clonic seizure, and an anteroseptal myocardial infarction[ncbi.nlm.nih.gov]

    Missing: Persistent Notochordal Canal
  • Pallister W Syndrome

    disc and absence of normal fundus pigmentation with the exception of small cuff of pigment around the optic disc.[healio.com] My nephew still has giggle fits that are actually seizures.[wintermutedsun.wordpress.com] Seizures [ edit ] As noted above, the hypothalamic hamartoma can cause seizures. The most common types of seizures that occur are known as gelastic epilepsy.[en.wikipedia.org]

    Missing: Persistent Notochordal Canal

Similar symptoms