Reactions 1933, p263 - 19 Nov 2022 1

Levetiracetam/oxcarbazepine S

Lack of efficacy: case report

A female infant [exact age not stated] exhibited lack of efficacy to oxcarbazepine and levetiracetam for the treatment of epilepsy
[dosages and routes not stated].
The girl was born by caesarean section and had syndromic facies at birth, along with low implantation of the ears, hypertelorism,
macrocephaly, and bilateral lens opacities. During one month of age, a genetic examination identified chromosomal alteration: the
terminal deletion of 8.9 Mb segment of the short arm of chromosome 6 (in 6p25.3p24.3). She was diagnosed with microdeletion
syndrome at two months of age. She was diagnosed with Dandy-Walker malformation and hydrocephalus during the intrauterine
period that was confirmed at her birth. During the first postnatal month, she underwent fenestration of intrathecal cyst with
emptying of hypertensive hydrocephalus, by microsurgery of intracranial tumours. Following one month of her surgery, she
underwent ventriculoperitoneal shunt. Due to hydrocephalus, she had motor repertoire and generalised hypotonia with movement
variability. She was diagnosed with congenital glaucoma after birth. She underwent bilateral trabeculotomy for decompression in
the first postnatal month. Close to one year of age, she underwent fistulising anti-glaucoma surgery. During postnatal third
trimester, she was hospitalised for epilepsy refractory to oxcarbazepine and levetiracetam (lack of efficacy). Her epilepsy was
managed with phenobarbital and valproate. Following seizure control, she underwent gastrostomy with fundoplication. Regarding
the tetralogy of Fallot that she had, she underwent ventriculosseptoplasty and enlargement of right ventricular outflow tract with
pulmonary valve preservation. An orthopedic follow-up during second postnatal trimester revealed dorsal scoliosis of the right
convexity, with rotation of the vertebral bodies and dorsal kyphosis. During two years of age, she was admitted for plaster cast.
Santos BZ, et al. Terminal deletion of the short arm of chromosome 6 (6P25.3P24.3): a literature review and case report of a Brazilian child. Medicina (Brazil) 55: No. 2,
2022. Available from: URL: http://doi.org/10.11606/issn.2176-7262.rmrp.2022.183650 803728076

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