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Pyridoxine Dependency Syndrome


Presentation

  • 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]
Physician
  • The book concludes with a clinical algorithm designed to be a resource for the physician in search of direction when considering an inherited metabolic disorder as the explanation for a patient with epilepsy.[books.google.com]
  • , American Gastroenterological Association, American Medical Association, American Society for Gastrointestinal Endoscopy, Medical Society of the State of New York, American Association of Physicians of Indian Origin, Americas Hepato-Pancreato-Biliary[emedicine.medscape.com]
  • Available at A Physician’s Guide to Infantile Spasms. Available at[medicalfoster.com]
  • Canadian Family Physician 48 (February 2002): 267-268, 277. Judith Turner Rebecca J. Frey, PhD[encyclopedia.com]
  • We thank all Neonatal Intensive Care and Neurology attending physicians, fellows, residents, and nurses for the excellent clinical care at The Hospital for Sick Children. Footnotes Accepted October 10, 2013.[pediatrics.aappublications.org]
Uremia
  • Deficiency can occur in people with uremia, alcoholism, cirrhosis, hyperthyroidism, malabsorption syndromes, and congestive heart failure (CHF), and in those taking certain medications. Mild deficiency of vitamin B6 is common.[naturalmedicinejournal.com]
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]
Neonatal Seizures
  • Uncoupling of EEG-clinical neonatal seizures after antiepileptic drug use. Pediatr Neurol. 2003;28(4):277–280. 19. Mizrahi EM, Kellaway P. Characterization and classification of neonatal seizures. Neurology. 1987;37(12):1837–1844. 20.[demosmedical.com]
  • The classic clinical presentation is neonatal seizures responsive only to pyridoxine therapy.[pediatrics.aappublications.org]
  • ALDH7A1 mutations can also be identified in patients with neonatal seizures and other phenotypic presentations such as neonatal sepsis.[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]
Focal Seizure
  • A wide range of focal seizures (anything from tonic posturing to autonomic signs) is very common and tonic spasms are also seen.[demosmedical.com]

Workup

  • , 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]

Treatment

  • 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]
  • 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]
  • According to the researchers, these results “suggest that early diagnosis and treatment with this new triple therapy may ameliorate the cognitive impairment in PDE”.[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]

Prognosis

  • 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]
  • 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]
  • Treatment and Prognosis Early treatment determines the prognosis. In the absence of early appropriate treatment, the prognosis is poor, all survivors being severely mentally retarded(8).[indianpediatrics.net]

Etiology

  • 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]

Epidemiology

  • 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]
  • Epidemiology of pyridoxine-dependent and pyridoxine responsive seizures in the UK. Arch Dis Child 1999; 81; 431-433. 16. Gupta VK, Mishra D, Mathur I, Singh KK. Pyridoxine-dependent seizures: A case report and a critical review of the literature.[indianpediatrics.net]
Sex distribution
Age distribution

Pathophysiology

  • 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]

Prevention

  • 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]
  • Hospital for Sick Children Health A-Z Search a complete list of child health articles expand_more View All Drug A-Z Search a list of articles about medications expand_more View All Learning Hubs Browse a complete list of content groups Healthy Living & Prevention[aboutkidshealth.ca]
  • 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]

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