Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study.

Phosphomannomutase deficiency (PMM2-CDG) leads to cerebellar atrophy with ataxia, dysmetria, and intellectual deficits. Despite advances in therapy, the cognitive and adaptive profile remains unknown. Our study explores the adaptive profile of 37 PMM2-CDG patients, examining its association with parental stress and medical characteristics.

Perampanel as adjuvant treatment in epileptic encephalopathies: A multicenter study in routine clinical practice.

Objective: Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of syndromes, including Lennox-Gastaut syndrome (LGS), which are refractory to multiple therapies. Perampanel efficacy has been reported in LGS but further real-world evidence is needed in DEEs.

Methods: A multicenter, retrospective, 1-year observational study in patients with DEEs on adjuvant perampanel treatment was conducted to assess perampanel safety and effectiveness in this type of patients in a real-world setting.

Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders.

Purpose: Inborn errors of neurotransmitters are rare monogenic diseases. In general, conventional neuroimaging is not useful for diagnosis. Nevertheless, advanced neuroimaging techniques could provide novel diagnosis and prognosis biomarkers.

From gestalt to gene: early predictive dysmorphic features of PMM2-CDG.

Introduction: Phosphomannomutase-2 deficiency (PMM2-CDG) is associated with a recognisable facial pattern. There are no early severity predictors for this disorder and no phenotype-genotype correlation. We performed a detailed dysmorphology evaluation to describe facial gestalt and its changes over time, to train digital recognition facial analysis tools and to identify early severity predictors.

Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG.

Phosphomannomutase deficiency (PMM2-CDG) causes a cerebellar syndrome that has been evaluated using the International Cooperative Ataxia Rating Scale (ICARS). However, no particular dysarthria tests have been used. Speech ICARS subscore subjectively assesses fluency and clarity of speech with two items.

A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG).

Background: We aim to delineate the progression of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) using the International Cooperative Ataxia Rating Scale (ICARS). We sought correlation between cerebellar volumetry and clinical situation. We prospectively evaluated PMM2-CDG patients aged from 5 to 18 years through ICARS at two different time points set apart by at least 20 months.

[Neuropsychological performance in neurofibromatosis type 1].

Introduction: Neurofibromatosis type 1 (NF1) is a genetic disorder with various clinical manifestations that affect the peripheral and central nervous system, as well as the skin, bones and endocrine and vascular system. There is still insufficient knowledge of neuropsychological effects of NF1 on children, and there is some controversy about the cognitive deficits that defines the cognitive profile of patients affected by this disorder.

Aims: In this study an analysis is made of the neuropsychological performance of a group of patients affected by NF1, compared with a control group of healthy children.

[Voluminous plexiform neurofibromas of the neck region in neurofibromatosis 1].

AIM. To present the clinic, imaging and evolutive characteristics of a series of patients with neurofibromatosis 1 with voluminous plexiform neurofibromas in the neck (VPNFN) during childhood. PATIENTS AND METHODS.

[Corpus callosum tumor as the presenting symptom of neurofibromatosis type 1 in a patient and literature review].

Introduction: Neurofibromatosis type 1 (NF1) is one of the most frequent neurocutaneous syndromes. NF1 can be associated with intracranial tumors in any location, but only rarely in the corpus callosum.

Aims: To describe a case of NF1 presenting as a tumor of the corpus callosum and to carry out a review of the incidence of the tumors of corpus callosum in our series and in the literature.

Bilateral spinal neurofibromas in patients with neurofibromatosis 1.

Neurofibromatosis 1 (NF1) is a neurocutaneous syndrome that can be inherited as autosomal dominant or may appear due to a de novo mutation. We present 8 patients (5 M and 3 F) with sporadic or non-familial spinal neurofibromatosis 1 (non-FSNF1) associated with bilateral spinal neurofibromas involving all of the paraspinal nerves. To our knowledge, this is the first series of such association described in the literature.

Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.

Background: Juvenile neuronal ceroid lipofuscinosis (JNCL, NCL3, Batten disease) is usually caused by a 1.02-kb deletion in the CLN3 gene. Mutations in the CLN1 gene may be associated with a variant form of JNCL (vJNCL).

Pascual-Castroviejo type II syndrome (P-CIIS). Importance of the presence of persistent embryonic arteries.

Introduction: Cutaneous hemangioma and vascular malformation are two vascular abnormalities frequently associated with absence or hypoplasia of one or both carotid and/or vertebral arteries, presence of persistent embryonic arteries, especially the trigeminal, cerebellar malformations, and coarctation of the aortic arch and/or congenital cardiopathy. This disease is known as Pascual-Castroviejo type II syndrome (P-CIIS) and by the acronym PHACE.

Material And Methods: Three patients (two females and one male) with facial hemangioma are studied during the first years of age by magnetic resonance angiography (MRA) and their vascular evolution to adult age followed through several MRA controls.

[Cerebral hemisphere tumours in neurofibromatosis type 1 during childhood].

Aim: To present seven tumors of the cerebral hemispheres in 6 children with neurofibromatosis type 1 (NF1).

Patients And Methods: Six patients (three males and three females) of 600 cases of a series with NF1 showed features of cerebral hemispheres tumor (seizures, headache and hemiparesis). They were studied neurologically, by EEG and by image (MR and/or spectroscopic-MR) because of these features or simply because having NF1.

Sturge-Weber syndrome: study of 55 patients.

Purpose: To review the clinical and neuroimaging features of a large series of patients with Sturge-Weber syndrome (SWS) seen over a 40-year period.

Methods: Fifty-five patients with SWS (30 males and 25 females), were studied between 1965 and 2004. Results of neurological and ophthalmological examinations, electroencephalographic, and neuroimaging studies were reviewed.

Direct tandem duplication in chromosome 19q characterized by array CGH.

Partial trisomy of the long arm of chromosome 19 is a rare aneusomy. Only six cases of pure duplications have been previously reported, two of which were prenatally detected. Here we describe the clinical manifestations in a 15-month-old girl with a de novo dup(19)(q12q13.