We reviewed the etiology, clinical symptoms, differential diagnosis, treatment and prognosis of the Landau-Kleffner syndrome. The Landau-Kleffner syndrome is a rare syndrome of unknown etiology. Onset occurs between 18 months and 13 years of age, with three-fourths of the cases appearing before the age of 7 years. Most patients appeared normal before the onset of the syndrome. The loss of acquired language is usually total, but nonverbal skills are generally completely or at least relatively preserved. Clinical seizures are experienced by 70% of patients at some time, although they do not necessarily appears at very beginning of disorder. Paroxysmal electroencephalography abnormalities are often very marked; such abnormalities tend to increase during slow wave sleep, often producing continuous spike and waves during slow wave sleep. Other characteristics associated with this syndrome include neurobehavioral symptoms such as autistic behavior, various degrees of cognitive regression and motor disorders. Treatment with standard anti-epileptic drugs is typically not effective. Adrenocorticotropic hormone is currently preferred due to its clinical and electroencephalographic efficacy. The prognosis is uncertain. Significant improvement is observed in most cases, although moderate or permanent speech deficiencies typically persist. Since proper treatment of Landau-Kleffner syndrome, once identified, can have profound consequences on a child's language development, it is important for the clinician to evaluate any child with alterations of speech development without a cause with an electroencephalogram that includes recording during sleep.

We analyzed the treatment of 25 children with infantile spasm, 52% were males and 48% females. Of the cases studied 80% were symptomatic and 20% cryptogenic. Twenty-three children were treated with synthetic adrenocorticotropic hormone (ACTH), in 15 children the ACTH was administered with antiepileptic drugs and two children received vigabatrin. In the symptomatic cases of West syndrome, we found hypoxic-ischemic encephalopathy, tuberous sclerosis, brain malformations and Down syndrome. ACTH was efficacious in symptomatic infantile spasms and in cryptogenic spasms. The side effects most frequently found were: irritability, edema, Cushingoid obesity (moon face), hypertension and hypokalemia. Vigabatrin was used in patients with tuberous sclerosis and was efficacious in the control of infantile spasms. Infantile spasms should be treated as soon as the diagnosis is made. ACTH is still first-choice treatment in patients with West syndrome. The drug of choice of the treatment of infantile spasms in children with tuberous sclerosis is vigabatrin.

We reviewed the etiologic aspects, clinical symptoms, complementary studies, differential diagnosis and treatment of alternating hemiplegia of childhood (AHC). AHC is an uncommon illness of uncertain pathophysiology that provokes crisis of transient hemiplegia affecting one hemibody or occasionally both at the same time. Clinical symptoms of AHC usually begin before the age of 18 months and in some cases may present in the neonatal period. Clinical symptoms include abnormal ocular movements such as nystagmus and dystonic or tonic posturing. Hemiplegic attacks are not associated with alteration of consciousness. Hemiplegia may disappear after arousal and may reappear 10 to 20 minutes after arousal in children with AHC. The diagnosis of AHC is clinically made, and most of the clinically used diagnostic tests result in negative. The treatment of AHC includes flunarizine. It is necessary to suspect this diagnosis to identify patients with AHC.

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Neurofibromatrosis type 1 (NF-1) in the most common neurocutaneous disease with a autosomal dominant inheritance pattern and a frequency of 1:3.500 lives births in the general population, regardless of race and sex. NF-1 is a progressive disorder characterized by multiples café-au-lait macules, neurofibromas, Lish nodules and others manifestations such as bone abnormalities, short stature, epilepsy, learning disabilities, hyperactivity, with a highly variable and unpredictable expression. Half of its cause comes from different mutations in a gene on chromosome 17, resulting in less or performance neurofibromin having the regulatory domain of tumor activity. The other 50% of the case are caused by de novo mutation.It is an infant 13 months old, no family history of neurofibromatosis, which features six café-au lait spots 1 cm of diameter in the legs, chest, auxiliary region a and short stature.The clinical diagnostic criteria of NF-1 were established by The National Institutes Heath Consensus Development Conference in 1987. It has been suggested that pathogenic mutation in the NF-1 gene be added to the list of diagnostic criteria, but not yet accepted.A molecular genetics study showed an alteration in exon 16 c.2540T>G (p.Leu847 Arg). No genetic alterations found in phenotypic parents.After six year of follow-up she was not observed clinical or radiographic abnormalities.The genetic study is mandatory for confirmation of the suspected diagnosis and to monitor de novo mutations that knowledge and phenotypic expression thereof.