Optic neuropathy consists of several etiological events. The primary etiologies of its acute form include optic neuritis, ischemic optic neuropathy, inflammatory (nondemyelinating) disorders, and trauma. Its subacute and chronic forms are most often linked to compressive, toxic, nutritional, or hereditary-genetic causes. Visual loss, dyschromatopsia, and visual field defects are the presenting symptoms. The Onodi cell (sphenoethmoidal air cell) is an anatomic variant located laterally and superior to the sphenoid sinus; it is closely related to the optic nerve. Onodi cell disorders are rare and may be unnoticed in differential diagnoses of patients with ocular and neurological manifestations. Here, we present the case of a 12-year-old boy with headache and acute loss of sight characterized by hemianopsia in the left eye and retrobulbar optic neuropathy caused by left sphenoethmoidal sinusitis with the presence of Onodi cell inflammation. The diagnosis was confirmed by multilayered paranasal computed tomography and cerebral magnetic resonance imaging. Therapeutic treatment resulted in gradual improvement: at the 2-week follow-up, the patient no longer had headaches and his visual acuity returned to normal. Inflammation of Onodi cells should be considered in children with headache and abnormal vision.

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Encephalocraniocutaneous lipomatosis is a sporadic, congenital neurocutaneous disorder characterized by the involvement of skin, central nervous system, and eye. A non-hereditary, autosomal mutation that may survive only in a mosaic state may be the cause of the clinical picture of the syndrome. Less than 80 patients have been so far reported and their clinical manifestations consisted of unilateral lipomatous hamartoma of the scalp or eyelid, epibulbar choristomas, and ipsilateral brain malformations. There is no clinical correlation between the severity of brain malformations and the clinical manifestations, and many patients with extremely extensive cerebral abnormalities are only minimal symptomatic. Seizures and mental retardation may also occur. The natural history is often favorable, without drug-resistant seizures and normal intelligence in most of the cases.

AbstractAicardi–Goutières syndrome (AGS) is a rare disorder characterized by acquired microcephaly, cerebral calcifications, leukodystrophy, cerebral atrophy, chronic lymphocytosis, and increased interferon-α in cerebrospinal fluid. We report on two children affected by AGS type 2, caused by mutations in RNASEH2B. The first child had the mutation c.529G > A (p.A177T) and presented with an atypical and mild phenotype, with delayed psychomotor development, calcifications of the brain white matter and basal ganglia, and interferon signature positivity. The disease course was stable. The second child presented the mutation c.554T > G (p.V185G) and showed a later onset (15 months) and a more progressive clinical course with functional inability in the upper limbs, steppage gait, and irritability. Despite immunoglobulin therapy, she developed to progressive tetraparesis and severe hypotonia. This case report highlights that RNASEH2B mutation cannot fully predict the phenotype of AGS type 2 when a mutation c.529G > A occurs. Moreover, an earlier symptomatology may be not related to a more severe prognosis or to a partial or absent response to treatment.

Protocadherin-19 (PCDH19) is considered one of the most relevant genes related to epilepsy. To date, more than 150 mutations have been identified as causative for PCDH19-female epilepsy (also known as early infantile epileptic encephalopathy-9, EIEE9), which is characterized by early onset epilepsy, intellectual disabilities, and behavioral disturbances. More recently, mosaic-males (i.e., exhibiting the variants in less than 25% of their cells) have been described as affected by infant-onset epilepsy associated with intellectual disability, as well as compulsive or aggressive behavior and autistic features. Although little is known about the physiological role of PCDH19 protein and the pathogenic mechanisms that lead to EIEE9, many reports and clinical observation seem to suggest a relevant role of this protein in the development of cellular hyperexcitability. However, a genotype–phenotype correlation is difficult to establish. The main feature of EIEE9 consists in early onset of seizures, which generally occur in clusters lasting 1 to 5 minutes and repeating up to 10 times a day for several days. Seizures tend to present during febrile episodes, similarly to the first phases of Dravet syndrome and PCDH19 variants have been found in ∼25% of females who present with features of Dravet syndrome and testing negative for SCN1A variants. There is no “standardized” treatment for PCDH19-related epilepsy and most of the patients receiving a combination of several drugs. In this review, we focus on the latest researches on these aspects, with regard to protein expression, its known functions, and the mechanisms by which the protein acts. The clinical phenotypes related to PCDH19 mutations are also discussed.