Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder.

Background: Myotonia is unusual in infants, and not well-known.

Methods: We describe neonatal life-threatening features of myotonia caused by de novo mutations in the muscle sodium channel gene SCN4A.

Results: Three male neonates initially displayed episodic laryngospasms, with face and limb myotonia appearing later.

A cytometric study of the red blood cells in Gaucher disease reveals their abnormal shape that may be involved in increased erythrophagocytosis.

Background: Gaucher disease is a sphingolipidosis caused by a deficiency of the enzyme glucocerebrosidase. Macrophages transform into pathogenic Gaucher cells following the phagocytosis of red blood cells (RBCs) and subsequent accumulation of glucosylceramide. Enhanced erythrophagocytosis is one feature of the disease indicating abnormal macrophage-RBC interactions.

Type I hyperprolinemia: genotype/phenotype correlations.

Type I hyperprolinemia (HPI) is an autosomal recessive disorder associated with cognitive and psychiatric troubles, caused by alterations of the Proline Dehydrogenase gene (PRODH) at 22q11. HPI results from PRODH deletion and/or missense mutations reducing proline oxidase (POX) activity. The goals of this study were first to measure in controls the frequency of PRODH variations described in HPI patients, second to assess the functional effect of PRODH mutations on POX activity, and finally to establish genotype/enzymatic activity correlations in a new series of HPI patients.

A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patients.

Objective: To describe the clinical presentation of 10 patients with type 3 Gaucher disease and the clinical evolution of nine of them following specific therapy regimes.

Methods: The follow-up of these 10 patients was between 2 and 15 years. The clinical history was provided by each patient's general practitioner and a final clinical evaluation was made by two different physicians including a neurologist.

[Rapid malnutrition in patient with anorexia nervosa: experience of a general pediatric department].

Objective: Rapid undernutrition in patients with anorexia nervosa can compromise vital functions, notably due to cardiac complications. The aim of this study was to analyze the clinical parameters of anorexic patients, hospitalized for substantial weight loss, in a general pediatric inpatient unit, in order to determine which parameters should be tested by the medical doctor.

Population And Methods: We performed a retrospective study on 20 consecutive patients (18 girls), median age of 13.

Microcephaly: a radiological review.

Microcephaly results from inadequate brain growth during development. It may develop in utero, and therefore be present at birth, or may develop later as a result of perinatal events or postnatal conditions. The aetiology of microcephaly may be congenital (secondary to cerebral malformations or metabolic abnormalities) or acquired, most frequently following an ischaemic insult.

Tumor-like enlargement of the optic chiasm in an infant with Alexander disease.

We report a patient with infantile Alexander disease (AXD) due to the recurrent p.Arg79Cys GFAP mutation. In addition to typical AXD abnormalities, magnetic resonance imaging demonstrated a tumor-like lesion of the optic chiasm suggestive of a glioma.

Dynamics of mutated GFAP aggregates revealed by real-time imaging of an astrocyte model of Alexander disease.

Alexander disease (AxD) is a rare neurodegenerative disorder characterized by large cytoplasmic aggregates in astrocytes and myelin abnormalities and caused by dominant mutations in the gene encoding glial fibrillary acidic protein (GFAP), the main intermediate filament protein in astrocytes. We tested the effects of three mutations (R236H, R76H and L232P) associated with AxD in cells transiently expressing mutated GFAP fused to green fluorescent protein (GFP). Mutated GFAP-GFP expressed in astrocytes formed networks or aggregates similar to those found in the brains of patients with the disease.

Early grade repetition and inattention associated with neurofibromatosis type 1.

Objective: The authors analyze the occurrence of grade repetition and inattention in children diagnosed with neurofibromatosis type 1 (NF1).

Method: The participant group consisted of 310 patients with NF1 and a control group of 242 individuals. The number of grade repetitions for each participant during his or her time in elementary, middle, and high school was noted and the inattention score was calculated from the Barkley's ADHD Clinic Parent Interview form.

Early neurological phenotype in 4 children with biallelic PRODH mutations.

Hyperprolinemia type I (HPI) results from a deficiency of proline oxidase (POX), involved in the first step in the conversion of proline to glutamate. Diverse phenotypes were described in patients with HPI, prior to the identification of the POX gene (PRODH): whereas various patients were asymptomatic, others had neurological and extraneurological defects. The PRODH gene is located in the region deleted in velocardiofacial syndrome (VCFS).

[Human herpes virus type 6, etiology of an acute encephalitis in childhood: case report].

Primary infection with human herpesvirus-6 (HHV-6) causes the classical roseola infantum. Otherwise the infection is clinically silent but it may sometimes be responsible for central nervous system involvement. In order to illustrate such a type of lesions, we report on a 16-month-old girl with acute leucoencephalitis.

[Neurological manifestations of type 1 Gaucher's disease: Is a revision of disease classification needed?].

Introduction: Gaucher's disease (GD), the most prevalent inherited lysosomal storage disorder, is caused by deficient glucocerebrosidase activity. The resulting accumulation of glucocerebrosides in lysosomes of macrophages leads to hepatosplenomegaly, anemia, thrombocytopenia, and various bone manifestations. Gaucher's disease is classified into 3 types based on the nature of its effects on the central nervous system.

Herpes simplex virus encephalitis in human UNC-93B deficiency.

Herpes simplex virus-1 (HSV-1) encephalitis (HSE) is the most common form of sporadic viral encephalitis in western countries. Its pathogenesis remains unclear, as it affects otherwise healthy patients and only a small minority of HSV-1-infected individuals. Here, we elucidate a genetic etiology for HSE in two children with autosomal recessive deficiency in the intracellular protein UNC-93B, resulting in impaired cellular interferon-alpha/beta and -lambda antiviral responses.

[Clinical aspects of early-stage neurological forms of Gaucher disease].

Pooling and in-depth analysis of cases taken from the literature and from French experience of patients suffering from early-stage neurological forms of Gaucher disease have made it possible to demonstrate the existence of more than two neurological forms which differ in terms of their natural history, clinical picture and response to enzyme therapy. The perinatal, lethal form is characterised by foetal and placental ânasarca, foetal death, prematurity or life-threatening distress at birth. The specific clinical signs include ichtyosis, muscle and tendon retraction and facial dysmorphism.

Type 2 Gaucher disease: 15 new cases and review of the literature.

Objectives: To provide a description of type 2 Gaucher disease. To attempt to define type 2 Gaucher disease within the spectrum of early-onset neuronopathic Gaucher disease.

Background: Type 2 Gaucher disease is a rare disorder due to glucocerebrosidase deficiency that comprises a rapidly progressing neurological degeneration associated with visceral signs.

Academic impairment is the most frequent complication of neurofibromatosis type-1 (NF1) in children.

Neurofibromatosis type-1 (NF1) is a common genetic disorder associated with a variety of medical complications, cognitive impairments, and behavioral problems. One hundred and sixteen patients with NF1 (62 males, 54 females; mean age 12.4 years) and 80 typically developing children of the same ages (46 males, 34 females; mean age 11.

Discontinuity in the fall of left-handedness in a French population: a May '68 effect?

The fall in the prevalence of left-handedness with age has been attributed to the effect of forced dextrality on handwriting. The purpose of this study was to assess handwriting preference in a cohort of children and adult participants in order to study the correlation between age and incidence of sinistrality. A strong preference for right handwriting across all ages with a decrease in sinistrality with age (18% in those under 20 versus 3% in those over 60) was observed.

Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation.

We report on the case of a 25-year-old woman with triple A syndrome and gene mutation, who, during the long follow-up period of 23 years, developed myoclonus of the face and the upper limbs (with normal brain magnetic resonance spectroscopy) and widespread digestive dysmotility, involving small bowels and gall bladder. These features, not previously described, illustrate an extension of the cerebral and digestive neurological involvement in this syndrome.

Alexander disease: putative mechanisms of an astrocytic encephalopathy.

Alexander disease (AXD) is the first primary astrocytic disorder. This encephalopathy is caused by dominant mutations in the glial fibrillary acidic protein (GFAP) gene, encoding the main intermediate filament of astrocyte. Pathologically, this neurodegenerative disease is characterised by dystrophic astrocytes containing intermediate filament aggregates associated with myelin abnormalities.

Perinatal-lethal Gaucher disease.

Gaucher disease is a lysosomal storage disease caused by glucocerebrosidase deficiency. Although purely visceral in most cases, some Gaucher disease patients have neurological signs. Signs of Gaucher disease appear after a symptom-free period, except in rare cases with fetal onset.

[Hematologic manifestations of inborn errors of metabolism].

Haematological symptoms can be helpful for the diagnosis of metabolic diseases. A megaloblastic anemia orientates to folate and cobalamine anomalies when associated with homocystinemia and decreased plasma methionine levels, or to congenital oroticuria (hypochromia), Pearson syndrome (sideroblasts and vacuolisation of precursors) and thiamine transporter abnormality (sideroblasts) in the absence of homocystinuria. An hemolytic anemia orientates to anomalies of anaerobic glycolysis, heme synthesis, or iron metabolism, and Wilson disease.