Pyridoxine Therapy: Not Just the Dose, the Duration Matters Too

Pyridoxine-dependent epilepsy (PDE) (OMIM 266100) is an autosomal recessive disorder of lysine metabolism secondary to antiquitin deficiency. The prototypical presentation is intractable neonatal seizures that do not respond to conventional antiseizure medication but are well controlled by pyridoxine supplementation. Atypical forms account for one-third of the PDE spectrum and may escape early diagnosis. The common atypical presentations include the prenatal onset of seizures, seizures onset as delayed as 3 years of age, autism, arrested hydrocephalus, and fetal ventriculomegaly. Herein, we describe a 9-month-old child with neonatal-onset refractory seizures who failed two short trials of pyridoxine therapy and was later diagnosed with PDE by molecular studies. Regardless of the therapeutic response, a prolonged course of pyridoxine therapy is justified to identify delayed responders in infants with drug-refractory epilepsy of no apparent etiology.

Olfactory event-related potentials in a functionally anosmic patient with arrested hydrocephalus

Hydrocephalus is one of the lesser known causes of central olfactory loss. The pathogenesis of hydrocephalus involves the olfactory bulbs or tracts, and more rarely, other frontotemporal cortical regions. We describe a case of olfactory dysfunction in a macrocephalic 63-year-old female patient with arrested hydrocephalus. Her olfactory function was assessed by using the Sniffin’ Sticks test, olfactory event-related potentials (OERPs), and 3-Tesla magnetic resonance imaging (MRI). An OERP examination suggested partial impairment of the central olfactory pathways and central parietal regions where OERP amplitude is maximal. Indeed, we found an evident olfactory potential trace with an increased latency only on Pz derivation. However, structural MRI showed important cortical brain thinning and large expansion of the third ventricle, with evident damage of the olfactory frontotemporal areas. The Sniffin’ Sticks test and MRI supported the diagnosis of anosmia, while OERP findings indicated partial preservation of olfactory function, likely due to an adaptation of the central olfactory system. These findings highlight the importance of a multi-integrated approach to detect olfactory impairment.

Arrested Hydrocephalus in Childhood: Case Series and Review of the Literature

Introduction Hydrocephalus can be progressive or spontaneously arrested. In arrested hydrocephalus, the balance between production and absorption of the cerebrospinal fluid is restored. Patients are mostly asymptomatic, and no surgical treatment is necessary for them. Methods We performed a two-center consecutive case series study, aimed at investigating the safety of nonsurgical management of hydrocephalus in selected pediatric patients. We retrospectively selected all consecutive patients, suspected to suffer from arrested hydrocephalus and referred to our two institutions between January 2011 and December 2013. Data on clinical and radiological follow-up were collected until June 2017. Results Five children diagnosed with arrested hydrocephalus were included in the study. All patients presented macrocephaly as the main presenting sign. Associated mild-to-moderate stable motor disorders were assessed in four out of five cases. Typical symptoms and signs associated with acute raised intracranial pressure were absent in all patients. Magnetic resonance imaging studies showed ventriculomegaly in all patients. A diagnosis of arrested hydrocephalus was made in all five cases based on stable clinical and radiological findings during the initial observation. Conservative management based on active surveillance was, therefore, proposed. During the follow-up period, we observed stable or improved conditions in four out of five patients, while the remaining patient presented progressive hydrocephalus. Discussion Making a distinction between arrested and progressive hydrocephalus is fundamental, because of the opposed appropriate management. Any newly discovered case of hydrocephalus, not characterized by clear signs of progressive hydrocephalus, should benefit from active surveillance before any definitive decision is taken.