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Background/Objectives: Develop a clinical and genetic characterization, in a group of small-for-gestational-age (SGA) patients who did not experience catch-up growth Methods: In an ambispective cohort study with (SGA) patients. These patients received one treatment with growth hormone (GH) over 14 years. This study analyzes their response to treatment and conducts a genetic analysis in order to identify cases with specific phenotypic and auxological characteristics, defined as presenting two or more dysmorphic traits and/or a stature below -3 SDS (standard deviation score). Whole-exome sequencing (WES) was performed on selected patients. Results : Forty-four SGA patients were examined, with an average age of 6.4 (2.49) years and an initial size of -3.3 SDS. The pubertal growth was 24.1 (5.2) cm in boys and 14.7 (4.3) cm in girls. WES in 11 SGA patients revealed conclusive genetic variants in eight, including two pathogenic ACAN variants, one 15q26.2-q26.3 deletion, and four variants of uncertain significance in other genes. Conclusions : Treatment with GH in SGA patients was shown to be effective, with a similar response in the group with positive genetic results and in the group who did not undergo a genetic study. Genetic testing based on auxological and clinical criteria proved highly cost-effective.

Introduction: Foix-Chavany-Marie syndrome, or bilateral anterior opercular syndrome, is characterised by facio-pharyngo-glosso-masticatory diplegia with 'automatic-voluntary dissociation', which consists in the abolition of voluntary movements while involuntary movements and reflexes are preserved. It is produced by bilateral involvement of the anterior or frontal opercular region. In adults it is related to ischemic lesions. In childhood it presents congenitally in perisylvian dysplasias and as an acquired disorder in encephalitis or can be episodic in symptomatic or idiopathic epilepsies such as benign rolandic epilepsy., Case Report: A 13-year-old patient who presented, over five straight days, four episodes of facial dysplegia, anarthria, dysphagia, drooling, paralysis of the upper limbs, while involuntary facial expression was normal and the corneal, cough and gag reflexes were preserved. The first three come to an end spontaneously at 2, 4 and 20 hours, respectively; the fourth episode concluded an hour and a half after onset, following administration of intravenous phenytoin for 5 minutes. Computerised axial tomography and magnetic resonance images of the brain, as well as the interictal electroencephalograms (EEG), were normal. Administration of oxcarbazepine was started but at 8 months was stopped after a normal EEG during nocturnal sleep was obtained. After 15 months, the patient has not presented any more episodes., Conclusions: The paroxysmal character of the disorder together with normal interictal periods, the normality of the neuroimages, and the speedy recovery achieved after the administration of phenytoin support the notion of an epileptic origin. We believe that we are dealing with a bilateral anterior opercular syndrome due to a non-convulsive epileptic state, compatible with the presentation of benign rolandic epilepsy.

Introduction: Episodic disseminated inflammation of the central nervous system (CNS) presents in processes that are difficult to differentiate, such as acute disseminated encephalomyelitis (ADE) and its multiphasic variants, and multiple sclerosis (MS). Magnetic resonance imaging allows these problems to be identified more frequently than in the past., Patients and Methods: We carried out a retrospective study of the cases of episodic disseminated inflammation of the CNS, according to clinical features and compatible neuroimaging, at the Neuropaediatric Unit of the Hospital Infantil Miguel Servet, between May 1990 and August 2003., Results: Of the 6777 children evaluated over this period, 10 met the eligibility criteria, with a minimum age at onset of 2 years and 2 months. In four cases there was a history of an infectious process or vaccination. Clinical involvement was multisymptomatic, the most frequent being ataxia, dysmetry, tremor, drowsiness, paresis and cranial nerve involvement. Six of them had cerebrospinal fluid disorders and only two presented disorders in the fundus oculi. Five of them were given corticoid treatment. Progress was favourable, except in two cases: one due to the persistence of a corticoid dependent optical neuropathy and the other because of dyskinesia in the right hand., Discussion: Diagnosis of ADE is established by signs of multifocal clinical involvement and neuroimaging, and depends on a compatible progression. Prognosis is generally good and corticoids seem to be effective, at least in shortening the time the clinical features last. It is not possible to completely differentiate it from MS, especially in recurring forms. Clinical and magnetic resonance controls must be carried out.

Introduction: Prenatal intracranial anomalies of a cystic nature are mainly either malformations (arachnoid cysts) or disruptive (porencephaly). They are usually incidental findings and, unless they undergo a progressive increase in size and become expansile or offer clinical features, they are usually managed 'expectantly'. Disruptive defects are more frequent in twin pregnancies., Case Report: A one and a half-month-old male patient, fruit of a bichorial twin pregnancy, with bouts of paleness, cyanosis around the mouth and movements of the mouth that initially responded to treatment with valproate. Physical exploration was normal except for a significant increase in the cephalic perimeter. A notable anaemia was observed and neuroimaging revealed a left temporal intraparenchymatous cystic lesion; in addition, magnetic resonance imaging showed alterations in the linear and symmetrical signals in the parasagittal region. At three months the seizures reappeared and the cyst had increased in size, which led to the implantation of a cyst peritoneal shunt. The seizures ceased and the size of the cyst became stable, without full re expansion of the brain tissue., Discussion: It is necessary to carry out a differential diagnosis of an arachnoid cyst and porencephaly. Given the history of being a twin, the notable degree of anaemia at the age of one month and the image suggesting parasagittal cerebral injury (a pattern of hypoxic ischemic encephalopathy in the full term neonate), we think that our patient was suffering from antenatal or perinatal cerebrovascular damage, which conditioned the development of an expansile porencephalic cyst and cortical damage that accounted for the symptoms of epilepsy.