Epilepsy in Biotinidase Deficiency After Biotin Treatment

Abstract

Patients with severe biotinidase deficiency (BD), if untreated, may exhibit seizures, psychomotor delay, deafness, ataxia, visual pathology, conjunctivitis, alopecia, and dermatitis. Clinical features normally appear within the first months of life, between two and five. Seizures are one of the most common symptoms in these patients (55%), usually presented as generalized tonic-clonic, and improving within 24 h of biotin treatment. Treatment delay has been associated with irreversible neurological damage, mental retardation, ataxia, paraparesis, deafness, and epilepsy exceptionally.We report the case of a girl who was admitted at 2.5 months because of vomiting, failure to thrive, flexor spasms, dermatitis, and neurological depression for 1 month. BD was identified and was treated with biotin, stopping seizures and improving symptoms. Developmental delay, paraparesis, optic atrophy, and seizures during febrile illness were observed at follow-up. At the age of 8, she suffered hemigeneralized seizures despite appropriate biotin treatment, so levetiracetam was administered, and epilepsy was controlled. Organic acid measurement was performed to determine whether the child was receiving enough or no biotin.Even though BD is a rare condition, because the biotinidase screening is a reliable procedure and the disorder is readily treatable, the implementation of extended biotinidase screening will effectively help to prevent any acute and long-term neurological problems as well as the significant morbidity associated with untreated disease. In addition, neonatal screening and early treatment with biotin prevents severe neurological sequelae, such as epilepsy, which has not been thoroughly described in the literature.

Inborn Errors of Metabolism in Pediatric Epilepsy

“…Even with treatment, 3 of the 5 patients had residual complications including blindness, seizures, hearing impairment, and developmental delays. In another case report, Mico and colleagues 27 reported a 2.5-month-old patient who presented with abnormal movements, failure to thrive, and neurologic depression. 27 She was found to have a severe biotinidase deficiency and was initially treated with biotin 20 mg daily.…”

“…26 While seizures are generally tonic-clonic in nature (56%), others have reported myoclonic, infantile spasms and Ohtahara syndrome. 27 Lactic acidosis, hyperventilation, and laryngeal stridor are seen in severe cases. Ultimately, low biotinidase activity will confirm the diagnosis.…”

Epilepsy in selected neurometabolic diseases

“…Biotyna zwana również witaminą H jest kofaktorem pięciu enzymów: karboksylazy pirogronianiowej, karboksylazy acetyloCoA, karboksylazy propionyloCoA, karboksylazy 3-metylokrotonowej [1,11,21]. W deficycie biotynidazy w badaniu MR widoczne są zaburzenia mielinizacji istoty białej, obrzęk prążkowia, zmiany zanikowe [21,22]. Z objawów systemowych spotykane są: rozdrażnienie, zapalenie spojówek, zajady, wyłysienie, z czasem zanik nerwu wzrokowego, niedosłuch.…”

“…Krew: podwyższenie stężenia glicyny, treoniny, tauryny, histydyny, obniżenie poziomu argininy child neurology Tabela II. Deficyt biotynidazy i deficyt wielu karboksylaz-symptomatologia kliniczna[21][22][23] Table II. Biotinidase and holocarboxylase deficiency-clinical picture[21][22][23].…”

Biotinidase deficiency in childhood

“…However, presymptomatic children detected by newborn screening remain asymptomatic. [7,8] Being a treatable disorder in the absence of routine newborn screening, a trial of biotin or investigations for BD must be considered in all children presenting with neurological symptoms, even in the absence of cutaneous or laboratory findings. [8,9] This study reports the clinical, laboratory profile, and outcome in patients with BD.…”