Epilepsy in biotinidase deficiency after biotin treatment

Pediatric Neurology Unit, Virgen de la Arrixaca Universitary Hospital, Madrid-Cartagena Road, s/n, El Palmar-Murcia, 30120, Spain, .
JIMD reports 01/2012; 4:75-8. DOI: 10.1007/8904_2011_74
Source: PubMed


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.

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Available from: Salvador Ibáñez-Micó, Jan 23, 2014
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    ABSTRACT: This study reports the clinical, laboratory profile and outcome in seven patients with biotinidase deficiency. The serum biotinidase activity was assayed using spectrophotometric analysis. The age at presentation varied from day 1 of life to the 5 th month. Seizures were the presenting complaint in six patients and clonic seizures were the predominant seizure type. Sparse hair was seen in four patients, while three did not have any cutaneous manifestation. None of the patients had acidosis or hyperammonemia. The clinical response to biotin was dramatic with seizure control in all patients. One patient had neurological deficit at follow-up, while none had optic atrophy or sensorineural hearing loss. Biotinidase deficiency, a potentially treatable condition, should be thought of in any child presenting with neurological symptoms, especially seizures, even in the absence of cutaneous or laboratory manifestations.
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    ABSTRACT: Biotin is a coenzyme composed of four carboxylases. It presents in amino acid catabolism, fatty acid synthesis, and gluconeogenesis. Biotinidase recycles the vitamin biotin. A biotinidase deficiency is a neurocutaneous disorder with autosomal recessive inheritance. The symptoms can be successfully treated or prevented by administering pharmacological doses of biotin. Although, according to neonatal prenatal medicine (2011), a biotinidase deficiency does not manifest during the neonatal period. In this study, we report on a case of biotinidase deficiency in the first week of birth. A 3100 g term boy was born via cesarean section. After 3 days, he was referred to the 17th Shahrivar Hospital with the chief complaint of tachypnea and grunting. Laboratory results revealed that liver and renal function tests, serum electrolytes, and blood indexes except ammonia were all normal. Within few days after the administration of oral biotin, the patient showed dramatic improvement and was discharged. However, within 4 months he was admitted two other times with the complaints of diarrhea and pneumonia. Unfortunately, he expired after 4 months. According to our results, it seems that clinicians should accurately assess suspicious patients and even assess infants for biotinidase deficiency.
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