Spinal cord demyelination in biotinidase deficiency: a case report

Biotinidase deficiency is a treatable cause of severe neurological disorders and skin disorders. Most symptomatic patients will have neurological, cutaneous manifestations and typical organic aciduria. Spinal cord involvement is a rare manifestation of this disease and is commonly unrecognized. We report a previously healthy boy who presented at the age of 28 months with recurrent ataxia and mild alopecia, and MRI evidence of spinal cord demyelination. Biotinidase deficiency was confirmed later. Supplementation with biotin resulted in disappearance of the symptoms and normalization of the MRI spinal cord changes. Biotinidase deficiency, as a treatable condition, should be considered in the differential diagnosis in any child who presents with neurological symptoms and spinal cord demyelination with or without alopecia

Antiepileptic drugs as a cause of seizures or seizure worsening in children

The phenomenon of seizures aggravated by antiepileptic drugs is frequently overlooked by physicians. It should be considered a side effect of antiepileptics, especially in epileptic cases treated with multiple antiepileptics [polytherapy] and in cases of intractable epilepsy. In this report, we discuss this phenomenon after demonstrating its occurrence in four cases in different clinical settings. A child presented with status epilepticus as a complication of acute intoxication with carbamazepine. Another child who after starting treatment with carbamazepine developed myoclonic seizures, as a new type of seizure which disappeared after stopping carbamazepine; these myoclonic seizures represent a paradoxical reaction to carbamazepine. A third child who was treated for absence epilepsy with carbamazepine developed worsening of the seizures. This re p resents an inappropriate choice of antiepileptic drug for this type of seizure. A fourth epileptic child while on polytherapy with usual doses of sodium valproate and lamotrigine unexpectedly developed frequent prolonged absences and encephalopathy; he reverted to his base line state with dose reduction of both drugs. It is important to recognize this phenomenon, as it will help in reducing morbidity in epileptics by early and appropriate intervention