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Since its first clinical description (on his son) by William James West (1793–1848) in 1841, and the definition of the classical triad of (1) infantile spasms; (2) hypsarrhythmia, and (3) developmental arrest or regression as "West syndrome", new and relevant advances have been recorded in this uncommon disorder. New approaches include terminology of clinical spasms (e.g., infantile (IS) vs. epileptic spasms (ES)), variety of clinical and electroencephalographic (EEG) features (e.g., typical ictal phenomena without EEG abnormalities), burden of developmental delay, spectrum of associated genetic abnormalities, pathogenesis, treatment options, and related outcome and prognosis. Aside the classical manifestations, IS or ES may present with atypical electroclinical phenotypes (e.g., subtle spasms; modified hypsarrhythmia) and may have their onset outside infancy. An increasing number of genes, proteins, and signaling pathways play crucial roles in the pathogenesis. This condition is currently regarded as a spectrum of disorders: the so-called infantile spasm syndrome (ISs), in association with other causal factors, including structural, infectious, metabolic, syndromic, and immunologic events, all acting on a genetic predisposing background. Hormonal therapy and ketogenic diet are widely used also in combination with (classical and recent) pharmacological drugs. Biologically targeted and gene therapies are increasingly studied. The present narrative review searched in seven electronic databases (primary MeSH terms/keywords included West syndrome, infantile spasms and infantile spasms syndrome and were coupled to 25 secondary clinical, EEG, therapeutic, outcomes, and associated conditions terms) including MEDLINE, Embase, Cochrane Central, Web of Sciences, Pubmed, Scopus, and OMIM to highlight the past knowledge and more recent advances. [ABSTRACT FROM AUTHOR]

The co-occurrence of microcephaly and Legg-Calvè-Perthes disease (LCPD) in members of the same family has been previously recorded only in two Hungarian brothers. To study the clinical and radiological phenotype in a (second) family with LCPD and microcephaly, clinical, X-ray and MRI follow-up study of two Albanian siblings aged 8 and 11 years, were made. Both siblings had primary microcephaly, seizures and mild-to-moderate mental retardation. At head imaging the boy was found to have skull asymmetry, partial lack of frontal lobe development and partial agenesis of corpus callosum and the girl had a complex brain malformation consisting in thickening of the fronto-temporal cortex, colpocephaly, increased curvature of the Sylvian fissure, elevated tentorium with mild hypoplasia of the cerebellar vermis and dilated cisterna magna. In addition, the brother had ADHD and the sister minor eye anomalies mainly consisting in epicanthic folds and pale bilateral (temporal) optic disk. We recorded (and documented for the first time by brain MRI) a second family with familial co-occurrence of LCPD and microcephaly and the first occurrence of complex brain anomalies in the context of a small head circumference. The present report could encourage the observation of similar cases. [ABSTRACT FROM AUTHOR]

Sotos syndrome (SS) is an overgrowth syndrome characterized by typical facial appearance, learning disability, and macrocephaly as cardinal diagnostic features. Febrile (FS) and afebrile seizures are reported in 9-50% of cases. There is no evidence that patients with SS and FS later develop epilepsy, and no studies have investigated the electroclinical features and the long-term outcome in epileptic SS patients. The authors report a series of 19 SS patients with FS and/or epilepsy during childhood and a long-term follow-up. More than half of FS evolved to epilepsy. Temporal lobe seizures were recorded in 40% of patients with SS. Seizures were easy to control with common antiepileptic drugs in almost all patients. A careful neurologic evaluation is useful for SS patients, since seizures are an important finding among people with this overgrowth syndrome. [ABSTRACT FROM AUTHOR]

The prevalence and outcome of the most frequent type of epilepsy in infancy–infantile spasms (IS)—are well characterized in the setting of most neurocutaneous disorders. By contrast, still there is no study describing the natural history of IS in the setting of Sturge–Weber syndrome (SWS). Two patients with SWS and IS were identified in our series and five in the literature. The aim of study is to evaluate the clinical, electroencephalographic (EEG) and imaging features of our cases and to compare our cases with those described in the literature. IS in the setting of SWS is an uncommon but possible event (2/19 patients seen over 13 years in our institutions). We confirmed the correlation between IS and severity of SWS cutaneous and neural (extension of leptomeningeal capillary malformation) phenotype. IS in SWS seems to be atypical both from a clinical viewpoint (they are asymmetric) and from a laboratory viewpoint (EEG is not classically hypsarrhythmic). [ABSTRACT FROM AUTHOR]