ABSTRACT
Severe hydrocephalus in a child with congenital myotonic dystrophy X A young patient with congenital myotonic dystrophy, or Steinert's disease, presented at the age of 4.5 months with an increase of his head circumference and signs of intracranial hypertension. The results of the radiological exams reveal a major hydrocephalus. The patient condition evolved favourably after ventriculoperitoneal bypass. While ventriculomegaly is common in congenital myotonic dystrophy, hydrocephalus with signs of intracranial hypertension is rare, hence the need of regular monitoring of head circumference.
Un jeune patient atteint de dystrophie myotonique congénitale, ou maladie de Steinert, présente, à l'âge de 4 mois et demi, un décrochage de son périmètre crânien et des signes d'hypertension intracrânienne. Le bilan radiologique révèle une hydrocéphalie majeure. L'enfant évolue favorablement après dérivation ventriculopéritonéale. Alors que la ventriculomégalie est fréquente lors d'une dystrophie myotonique congénitale, l'hydrocéphalie avec signes d'hypertension intracrânienne est rare, d'où la nécessité d'un suivi régulier du périmètre crânien.
Subject(s)
Hydrocephalus , Intracranial Hypertension , Myotonic Dystrophy , Child , Family , Humans , Hydrocephalus/diagnostic imaging , Hydrocephalus/etiology , Myotonic Dystrophy/complicationsSubject(s)
Aggression , Brain Abscess/diagnostic imaging , Brain Abscess/complications , Child , Humans , Magnetic Resonance Imaging , MaleSubject(s)
Cerebral Hemorrhage/diagnosis , Hemangioma, Cavernous, Central Nervous System/diagnosis , Apoptosis Regulatory Proteins/genetics , Cerebral Hemorrhage/etiology , Cerebral Hemorrhage/surgery , Child , DNA Mutational Analysis , Hemangioma, Cavernous, Central Nervous System/genetics , Hemangioma, Cavernous, Central Nervous System/surgery , Humans , Magnetic Resonance Imaging , Male , Membrane Proteins/genetics , Proto-Oncogene Proteins/geneticsABSTRACT
Carnitine palmitoyltransferase II (CPT2) deficiency is a rare inborn error of mitochondrial fatty acid metabolism associated with various phenotypes. Whereas most patients present with postnatal signs of energetic failure affecting muscle and liver, a small subset of patients presents antenatal malformations including brain dysgenesis and neuronal migration defects. Here, we report recurrence of severe cerebral dysgenesis with Dandy-Walker malformation in three successive pregnancies and review previously reported antenatal cases. Interestingly, we also report that acylcarnitines profile, tested retrospectively on the amniotic fluid of last pregnancy, was not sensitive enough to allow reliable prenatal diagnosis of CPT2 deficiency. Finally, because fetuses affected by severe cerebral malformations are frequently aborted, CPT2 deficiency may be underestimated and fatty acid oxidation disorders should be considered when faced with a fetus with Dandy-Walker anomaly or another brain dysgenesis.
Subject(s)
Carnitine O-Palmitoyltransferase/deficiency , Metabolism, Inborn Errors/diagnosis , Adult , Fatal Outcome , Female , Humans , Infant, Newborn , Male , PregnancyABSTRACT
Acute disseminated encephalomyelitis (ADEM) is a disease of the central nervous system (CNS) mainly affecting children. It usually occurs within 2 days to 4 weeks following a triggering factor such a viral infection or an immunization. Clinical presentation is characterized by an acute encephalopathy and by multifocal neurologic abnormalities. In the absence of specific biologic marker, the diagnosis of ADEM is based on clinical, biological and radiological data including cerebrospinal fluid (CSF) analysis and magnetic resonance imaging (MRI). Brain MRI typically shows multifocal lesions predominantly involving the white matter. Treatment is based on high doses of steroids. Intravenous immunoglobulins or plasmapheresis are sometimes required. The prognosis is usually favorable but neurological sequellae can occur.
Subject(s)
Encephalomyelitis, Acute Disseminated/diagnosis , Encephalomyelitis, Acute Disseminated/drug therapy , Adrenal Cortex Hormones/therapeutic use , Child, Preschool , Encephalomyelitis, Acute Disseminated/cerebrospinal fluid , Humans , Immunoglobulins, Intravenous/therapeutic use , Magnetic Resonance Imaging , Male , Plasma Exchange , PrognosisABSTRACT
Autism is a pervasive developmental disorder characterised by an impairment in social interaction and in communication, with unusual behaviour. Genetic factors are predominent in autism pathogenesis, in contrast with the environmental factors that would modulate the phenotype. The genetic polymorphism and the phenotypic heterogeneity make the autism a complex disorder to study. Genetic research on families with multiple affected children and biochemical mechanisms studies represent the sources for identifying the susceptibility genes in autism.
