Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.

Myelination is a complex, developmentally regulated process whereby myelin proteins and lipids are coordinately expressed by myelinating glial cells. Homozygosity mapping in nine patients with childhood onset spasticity, dystonia, cognitive dysfunction, and periventricular white matter disease revealed inactivating mutations in the FA2H gene. FA2H encodes the enzyme fatty acid 2-hydroxylase that catalyzes the 2-hydroxylation of myelin galactolipids, galactosylceramide, and its sulfated form, sulfatide.

Lamotrigine overdose in a child.

The purpose of this article is to describe an unusual presentation of lamotrigine toxicity in an epileptic child treated on a lower than previously reported dosage. This is a case description of a 5-year-old epileptic girl on lamotrigine monotherapy, which caused toxicity. The child presented with ataxia, drowsiness, and acute confusion after ingesting 500 mg (25 mg/kg/d) in two 250-mg doses 12 hours apart.

Overuse of EEG in the evaluation of common neurologic conditions.

The objective of the present study was to analyze the diagnostic indications that most often prompt the referral of children and adolescents in the outpatient clinical pediatric practice for electroencephalographic evaluation and to check its utility in these clinical conditions. The electroencephalographic records of 547 consecutive children and adolescents (5-16 years of age) referred to a single community laboratory for the evaluation of various neurologic disorders were prospectively read by a single blinded investigator. Common diagnostic indications included the following: clinical seizures (42%), attention-deficit-hyperactivity disorder (23%), headaches (10.

Idiopathic trigeminal sensory neuropathy in childhood.

Harris first reported transient idiopathic trigeminal sensory neuropathy in 1935, although it later appeared that, in some of his patients, this condition evolved to typical chronic and painful trigeminal neuralgia. The patients who were later described by Hill and Hughes suffered a combined motor-sensory Vth cranial nerve dysfunction, and most cases reported by Spillane and Wells developed sustained permanent trigeminal neuropathy. The largest reported series of pure trigeminal sensory neuropathy includes 10 adults with varying degrees of sensory disturbance confined to all three nerve divisions.

Laceration of the phrenic artery. A life-threatening complication after repair of pectus excavatum.

We report a case of life-threatening hemothorax three months after surgical repair of pectus excavatum. Angiography revealed the hemorrhage to originate from a laceration of the phrenic artery secondary to dislodgment of the metal strut used for the repair. Awareness of this rare complication in patients after repair of pectus excavatum is required.