Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy.

The FARS2 gene encodes the mitochondrial phenylalanyl-tRNA synthetase and is implicated in autosomal recessive combined oxidative phosphorylation deficiency 14, a clinical condition characterized by infantile onset epilepsy and encephalopathy. Mutations in FARS2 have been reported in only few patients, but a detailed description of seizures, electroencephalographic patterns, magnetic resonance imaging findings, and long-term follow-up is still needed. We provide a clinical report of a child with FARS2-related disease manifesting drug-resistant infantile spasms associated with focal seizures. By comparative genomic hybridization analysis we identified a heterozygous microdeletion in the short arm of chromosome 6, inherited from the mother, that encompasses the first coding exon of FARS2. By sequencing of the FARS2 gene we identified a variant c.1156C>G; p.(R386G), inherited from the father. By using standard spectrophotometric techniques in skin fibroblasts, we found a combined abnormality of complexes I and IV of the mitochondrial respiratory chain. The main clinical features of the patient included axial hypotonia, mild distal hypertonia, and psychomotor delay. The magnetic resonance imaging showed microcephaly, frontal cerebral atrophy, and signal changes of dentate nuclei. At the age of 3 years and 6 months, the patient was still under treatment with vigabatrin and he has been seizure free for the last 23 months. © 2016 Wiley Periodicals, Inc.

Glucose Transporter Type 1 Deficiency Syndrome: Developmental Delay and Early-Onset Ataxia in a Novel Mutation of the SLC2A1 Gene.

Glucose transporter type 1 deficiency syndrome (GLUT1-DS) was first described by De Vivo in 1991, and the classic clinical manifestations include infantile epilepsy, developmental delay, and acquired microcephaly. A neurological complex disorder including elements of hypotonia, spasticity, ataxia, and dystonia can frequently be present. GLUT1-DS is an inborn error of metabolism caused by impaired glucose transport through blood-brain barrier in the majority of patients because of mutation of solute carrier family 2 (facilitated glucose transporter) member 1 gene (SLC2A1), encoding the transporter protein. We report a 6-year-old girl with GLUT1-DS, which is caused by a novel heterozygous variant c.109dupC of the SLC2A1 gene. The dominating clinical features were ataxia, epilepsy started at 4 years, acquired microcephaly, and mild intellectual disability. Treatment with ketogenic diet showed clinical improvement with the reduction of ataxia and seizure control in a 10-month follow-up period.

Cerebral ischemic involvement in Vogt-Koyanagi-Harada disease.

BACKGROUND: Vogt-Koyanagi-Harada (VKH) disease is an autoimmune disorder characterized by ocular, auditory and neurological manifestations (headache, meningismus and/or aspeptic meningoencephalitis). PATIENT: We describe a 12-year-old African boy with bilateral uveitis who presented with acute unilateral hearing loss and neurological symptoms such as left-sided dyskinesias, unsteady gait and throbbing headache. Brain magnetic resonance imaging showed ischemic lesions of the right basal ganglia in the territory of lenticulostriate and thalamic arteries. He improved after treatment with intravenous and oral steroids. CONCLUSION: Cerebral ischemic episodes should be included in the possible neurological manifestations of VKH.