This text brings together leading authorities presenting state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders. [books.google.com]

Atypical presentations were relatively frequent, occurring in just over one third of cases. [adc.bmj.com]

Although most affected individuals present with intractable neonatal seizures that are unresponsive to anticonvulsants, some individuals present with later onset of seizures in infancy or early childhood (≤ 3). [epilepsygenetics.net]

They also present with no abnormal findings during any form of examination and there is no evidence of a presumptive trigger for the spasms. [news-medical.net]

The child first presented with seizures at the age of 14 months. [dev.docslide.net]

• Seizure

  Author of: Benign childhood partial seizures and related epileptic syndromes London: John Libbey and Co. (1999)) Early-onset benign childhood occipital seizure susceptibility syndrome: a syndrome to recognise. Epilepsia 1999: 40:621-630 [books.google.com]

  Seizure types include focal motor seizures, asymmetric tonic or clonic seizures, and epileptic spasms. [demosmedical.com]

  […] of pyridoxine, whatever the suspected cause pyridoxine dependent seizures pyridoxine responsive seizures epidemiology Statistics from Altmetric.com pyridoxine dependent seizures pyridoxine responsive seizures epidemiology Early onset seizures responsive [adc.bmj.com]

  These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). [ghr.nlm.nih.gov]

  Pyridoxine dependent and pyridoxine responsive seizures. vitamin responsive Conditions in paediatric neurology. London, MacKeith Press: 2001:109-165. Baxter P. Pyridoxine-dependent and pyridoxine-responsive seizures. [rarediseases.org]

• Neonatal Seizures

  SEIZURE DETECTION Seizure is the most common neurologic disorder in the neonatal period. [demosmedical.com]

  The classic clinical presentation is neonatal seizures responsive only to pyridoxine therapy. [pediatrics.aappublications.org]

  […] conditions, such as benign neonatal sleep myoclonus or benign neonatal seizures. [adc.bmj.com]

  The same variants have been identified in patients with both neonatal and late-onset of seizures. [epilepsygenetics.net]

  Key words : Pyridoxine dependent seizures; Neonatal seizures Pyridoxine-dependent epilepsy is a syndrome that usually presents with neonatal intractable seizures. It may present in later infancy or early childhood. [indianpediatrics.net]

• Peripheral Neuropathy

  Symptoms can include peripheral neuropathy, a pellagra-like syndrome, anemia, and seizures, which, particularly in infants, may not resolve when treated with anticonvulsants. [merckmanuals.com]

  Detailed evaluation revealed that psychological symptoms were of alcohol-dependent syndrome and neurological symptoms were due to alcoholic peripheral neuropathy. [ijnpnd.com]

  Other manifestations include anemia, peripheral neuropathy, and dermatitis. Treatment consists of pyridoxine 5 mg intramuscularly followed by 0.5 mg per day orally for 2 weeks. Correct dietary deficiency. [emedicine.medscape.com]

  Subepidermal vesicular dermatosis and sensory peripheral neuropathy caused by pyridoxine abuse. J Am Acad Dermatol 1986; 14: 915-7. Parry G, Bredesen D. Sensory neuropathy with low dose pyridoxine. Neurology 1985; 35: 1466-8. [drugs.com]

acquisition of data, and drafting of the initial case presentation; Dr Hahn participated in the diagnostic workup; Dr Blaser participated in the interpretation and selection of images; Dr Mercimek-Mahmutoglu participated in the diagnosis of the patient [pediatrics.aappublications.org]

• Microcytic Anemia

  In their study, severe acute pyridoxine deficiency in young ducklings was also characterized by severe anemia while chronic pyridoxine deficiency in older ducklings produced paralysis, convulsions, severe microcytic anemia, and poor feather development [medical-dictionary.thefreedictionary.com]

  While this may be correct in some cases, P5P deficiency can also cause microcytic anemia. [metabolichealing.com]

  Vitamin B 6 deficiency may impair hemoglobin synthesis and lead to microcytic anemia (3). Deficiency in another B vitamin, niacin, is easily prevented by adequate dietary intakes. [lpi.oregonstate.edu]

Shorter duration between the onset of IS and initiation of standard treatment appears to lead to an improved outcome; therefore early recognition of the seizures and early treatment are essential. [childneurologyfoundation.org]

This form of epilepsy is extremely rare and is resistant to most forms of treatment other than pyridoxine, a therapeutic form of vitamin B6. [epilepsyresearch.org.uk]

Treatment of opioid-dependent pregnant women: clinical and research issues. [farmaciegravidanza.gov.it]

In general there is not much difference between treatment with ACTH and vigabatrin in terms of control, outcome and severe side-effects. Second-line treatment This includes: Benzodiazepines, valproate, lamotrigine, topiramate or zonisamide. [patient.info]

Treatment of vitamin B 6 toxicity is to stop taking vitamin B 6. Recovery is slow and, for some patients, incomplete. [merckmanuals.com]

Prognosis The prognosis for children with IS is largely dependent on the underlying cause. The intellectual prognosis for children with IS is generally poor because many babies with IS have neurological impairment prior to the onset of spasms. [childneurologyfoundation.org]

The prognosis for idiopathic infantile spasms tends to be better than for symptomatic infantile spasms [ 10 ]. [patient.info]

Two case reports from one family serve as illustrative examples of the diagnostic problems, therapy, and prognosis. The patient in case 1 is suspected of having had the disorder although there is no actual proof of this. [jamanetwork.com]

These movements tend to occur more often in encephalopathic infants and are also associated with poor prognosis (19). [demosmedical.com]

West Syndrome Prognosis West Syndrome Diagnosis West Syndrome Treatments [news-medical.net]

There are numerous potential etiologies for neonatal seizures, and timing of presentation as well as electrographic findings can be of potential use in elucidating their etiology. [demosmedical.com]

[…] with hypoxic-ischemic insult, prematurity-related complications, congenital infections, and chromosomal disorders. 13 – 16 It has been shown that SECs were resolved spontaneously within 1 to 12 months of age in 93.5% of cases independent of underlying etiology [pediatrics.aappublications.org]

The seizures rapidly respond to administration of parenteral pyridoxine in doses greater than physiologic doses. [1] A trial of pyridoxine is recommended in all seizures that have no clear etiology and occur before the child is aged 18 months. [9] Atypicalformsinclude [emedicine.medscape.com]

Yet, the etiology of late-onset depression is unclear and evidence is currently lacking to suggest whether supplemental B vitamins (including vitamin B 6 ) could relieve depressive symptoms. [lpi.oregonstate.edu]

Here, we report the epidemiological findings. [adc.bmj.com]

Baxter P. (1999) Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK. Arch Dis Child. 1999;81:431-433. Ebinger M, Schutze C, Konig S. Demographics and diagnosis of pyridoxine-dependent seizures. [rarediseases.org]

Epidemiology The peak incidence is between 4 and 7 months of age, with 90% starting under 1 year of age. It is confined to infants and very small children. [patient.info]

[…] all neonatal onset cases of VB6 dependent seizures,and are also found in some, but not all, late-onset cases. [15] Pipecolic acid and a-AASA have become useful biomarkers for the diagnosis of VB6 dependency.Pipecolic acid acts as a modulator of GABA Epidemiology [emedicine.medscape.com]

The definitive pathophysiology of the syndrome still remains unclear. [news-medical.net]

[…] aged 4-7 years - 0.8-1.3 mg/d Boys aged 8-11 years - 1.1-1.6 mg/d Boys aged 12-15 years - 1.4-2.1 mg/d Boys aged 16-18 years - 1.5-2.2 mg/d Girls aged 8-11 years - 1-1.5 mg/d Girls aged 12-15 years - 1.2-1.8 mg/d Girls aged 16-18 years - 1.1-1.6 mg/d Pathophysiology [emedicine.medscape.com]

Preventing re-blockage of blood vessels after angioplasty. Evidence on the benefits of vitamin B6 for preventing the re-blockage of blood vessels after angioplasty is inconsistent. [rxlist.com]

Pyridoxine may be recommended by a healthcare provider to prevent these adverse effects. [naturalmedicinejournal.com]

The vitamin B 6 and magnesium combination can also help to prevent the recurrence of calcium oxalate kidney stones in susceptible people. [encyclopedia.com]

Deficiency in another B vitamin, niacin, is easily prevented by adequate dietary intakes. [lpi.oregonstate.edu]

Prevention of isoniazid- or penicillamine-induced anemia. Adults: 10 to 50 mg P.O. daily. [glowm.com]