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8,096 Possible Causes for Hyperthreoninemia, Overfolded Superior Helix, Seizure

  • Propionic Acidemia

    There was mild plagiocephaly and overfolding of the superior helix of each ear. The lower lip had loss of tissue in 2 lateral clefts with bulbous tissue in the center.[] All nine patients with pathological EEG discharges developed seizures compatible with the definition of symptomatic epilepsy.[] […] acidemia (PA), the most common form, is characterized by poor feeding, vomiting, and somnolence in the first days of life in a previously healthy infant, followed by lethargy, seizures[]

  • Methylmalonic Acidemia

    At 9 months of age, he developed brief tonic seizures, which showed polyspike bursts under EEG. His psychomotor development continued to deteriorate.[] The seizure types included partial seizure (n 21), generalized tonic-clonic seizure (n 5), tonic seizure (n 3), myoclonic seizure (n 3), and epileptic spasms (n 2).[] The disease can cause seizures and stroke.[]

    Missing: Overfolded Superior Helix
  • Pallister W Syndrome

    superior helix and small anthelix, sometimes cupped, with preauricular tags (fig 1 ).[] My nephew still has giggle fits that are actually seizures.[] Seizures [ edit ] As noted above, the hypothalamic hamartoma can cause seizures. The most common types of seizures that occur are known as gelastic epilepsy.[]

    Missing: Hyperthreoninemia
  • Leber Congenital Amaurosis

    Leber's congenital amaurosis associated with hyperthreoninemia. Am. J. Ophthal. 101: 475-479, 1986. [PubMed: 3083684] [Full Text: (86)90650-1] Khan, A.[] Clarifying the relation between LCA and associated neurological abnormalities such as autism, seizures, and hypotony, and unraveling the relationship between the ocular LCA[] […] case report describes a patient with peroxin protein 1 deficiency presenting as Leber congenital amaurosis, in whom the diagnosis was questioned at the age of 2 years when seizures[]

    Missing: Overfolded Superior Helix
  • Kaufman Oculocerebrofacial Syndrome

    Symptoms INHERITANCE: Autosomal dominant HEAD AND NECK: [Head]; Open metopic suture; [Face]; Midface hypoplasia; Micrognathia; [Ears]; Low-set ears; Overfolded superior helix[] […] hearing impairment Focal seizures Autism Talipes equinovalgus Hyperactivity Abnormality of the genital system Midface retrusion Cerebral atrophy Hyperthreoninuria Eye poking Hyperthreoninemia[] KCNQ2 Benign familial neonatal seizures, Epileptic encephalopathy, early infantile, Myokymia KCNQ3 Seizures, benign neonatal KCNT1 Epilepsy, nocturnal frontal lobe LGI1 Epilepsy[]

  • Hypoglycemia

    Postoperatively the patient demonstrated both generalized and focal seizure activity.[] Severe hypoglycemia eventually lead to glucose deprivation of the central nervous system resulting in hunger; sweating; paresthesia; impaired mental function; seizures; coma[] We present the case of a 61-year-old woman with severe hypoglycemia that induced seizures.[]

    Missing: Hyperthreoninemia Overfolded Superior Helix
  • Alcohol Abuse

    The symptoms associated with alcohol poisoning include but are not limited to irregular or slow breathing, low body temperature, paleness, and seizures.[] Heavy drinkers may experience tremors, panic attacks, confusion, hallucinations, and seizures.[] In severe cases, you could have a fever, seizures, or hallucinations. If you have any of these symptoms, your drinking may already be a cause for concern.[]

    Missing: Hyperthreoninemia Overfolded Superior Helix
  • Hyponatremia

    Post-transplant seizures are uncommon in young kidney transplant recipients but can be harbingers of devastating outcomes such as cerebral edema and death.[] PURPOSE: To evaluate the safety of eslicarbazepine acetate (ESL) in new onset elderly poststroke seizure patients, especially with respect to hyponatremia.[] […] to be a first seizure, other minor seizures have previously occurred. [10] Up to 10% of people have at least one epileptic seizure. [4] [8] Provoked seizures occur in about[]

    Missing: Hyperthreoninemia Overfolded Superior Helix
  • Infantile Choroidocerebral Calcification Syndrome

    Hyperthreoninemia. Treacher Collins syndrome (TCS). Mandibulofacial dysostosis (MFD). Trimethylaminuria. Fish odor syndrome. Tryptophanuria with dwarfism.[] Diseases related with Seizures and Cerebral calcification In the following list you will find some of the most common rare diseases related to Seizures and Cerebral calcification[] The seizures are often very frequent, and prolonged seizures may occur. In many cases seizures are associated with slowly progressive hemiparesis.[]

    Missing: Overfolded Superior Helix
  • Chronic Alcoholism

    Report of a case of SESA syndrome: a rare CNS complication of chronic alcoholism, known since 1981 and characterized by epileptic seizures, multiple and reversible neurological[] The first had been admitted with confusion and weight loss, the second with hypotension and sepsis, and the third with confusion and hypoglycaemia-induced seizures.[] Furthermore, taking into account that high plasma homocysteine levels are helpful in the prediction of alcohol withdrawal seizures, early anticonvulsive therapy could prevent[]

    Missing: Hyperthreoninemia Overfolded Superior Helix

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