ABSTRACT
No disponible
Subject(s)
Humans , Female , Child , Chest Pain/etiology , Paraplegia/etiology , Infarction/complications , Spinal Cord/blood supply , Spinal Cord Diseases/complications , Paraplegia/diagnostic imaging , Spinal Cord Diseases/diagnostic imaging , Spinal Cord/diagnostic imaging , Magnetic Resonance SpectroscopySubject(s)
Moyamoya Disease , White Matter , Brain , Child , Child, Preschool , China , Female , Humans , Magnetic Resonance Imaging , Moyamoya Disease/diagnostic imaging , White Matter/diagnostic imagingABSTRACT
No disponible
Subject(s)
Humans , Male , Child , Genes, Neurofibromatosis 1 , Neurofibromatosis 1/genetics , Intellectual Disability/diagnosis , Neurofibromatosis 1/diagnosis , Neurofibromatosis 1/epidemiology , Cerebrum/diagnostic imaging , Cerebrum/pathology , Chromosomes, Human, Pair 17/geneticsABSTRACT
1q44 deletion is a rare syndrome associated with facial dysmorphism and developmental delay, in particular related with expressive speech, seizures, and hypotonia (ORPHA:238769). Until today, the distinct genetic causes for the different symptoms remain not entirely clear. We present a patient with a 2.3-Mb 1q44 deletion, including AKT3, ZBTB18, and HNRNPU, who shows microcephaly, developmental delay, abnormal corpus callosum, and seizures. The genetic findings in this case and a review of the literature spotlight a region between 243 Mb and 245 Mb on chromosome 1q related to the genesis of the typical symptoms of 1q44 deletion.
Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 1 , Corpus Callosum/pathology , Microcephaly/genetics , Seizures/genetics , Child , Humans , MaleABSTRACT
Anti-N-methyl D-aspartate receptor (NMDAR) encephalitis is a devastating disease, that despite being increasingly diagnosed, there are no consensus guidelines for the optimal management. A previously healthy 3-year-old-boy brought to the emergency department due to seizures. Neurological examination was normal, and electroencephalogram (EEG) suggested focal epilepsy. Anticonvulsive medication was initiated. He progressively lost age-appropriate language skills, presented behavioural changes and psychiatric symptoms. Neurological examination at that time revealed symmetric gross motor weakness of the lower limbs. Brain and spinal cord MRI and cerebrospinal fluid were normal. Repeated EEG showed global lentification. Steroid therapy was initiated for the suspicion of autoimmune encephalitis, later confirmed as NMDAR encephalitis. He became clinically improved after 10 days of treatment but only returned to his baseline after 3 months of disease onset. The authors emphasised the variable course of the disease and possible late response to treatment.
Subject(s)
Anti-N-Methyl-D-Aspartate Receptor Encephalitis/drug therapy , Levetiracetam/therapeutic use , Methylprednisolone/therapeutic use , Anticonvulsants/therapeutic use , Child, Preschool , Disease Progression , Glucocorticoids/therapeutic use , Humans , Male , SeizuresABSTRACT
No disponible
Subject(s)
Humans , Female , Infant , Myelitis, Transverse/diagnosis , Myelitis, Transverse/drug therapy , Radiculopathy/etiology , Spinal Cord/diagnostic imaging , Myelitis, Transverse/complications , Albumins/cerebrospinal fluid , Methylprednisolone/therapeutic use , Ceftriaxone/therapeutic use , Azithromycin/therapeutic use , Catheterization/methods , Magnetic Resonance Imaging , Spinal Cord/pathologyABSTRACT
No disponible
Subject(s)
Humans , Female , Child , Dystonic Disorders/genetics , Point Mutation , Mutation, Missense , RNA-Binding Proteins/genetics , Brazil/epidemiology , Brazil/ethnology , Consanguinity , Exons/genetics , Portugal/epidemiologyABSTRACT
We present a case report of a meningoradiculopathy associated with human herpesvirus 7, with long-term motor neurologic sequelae. It is important to consider human herpesvirus 7 as a potential pathogen of severe neurologic disease and sequelae in immunocompetent children, especially in older patients presenting neurologic signs.
Subject(s)
Central Nervous System Viral Diseases , Herpesvirus 7, Human , Roseolovirus Infections , Child , Female , HumansABSTRACT
Hirayama disease, also known as monomelic amyotrophy or juvenile spinal muscular atrophy of the distal upper extremity features the impairment of the anterior horn cells of the distal cervical spinal cord secondary to dural sac anterior displacement during cervical flexion. We describe a case of a 17-year-old boy with a history of scoliosis, evaluated in the emergency department for decreased muscle strength and atrophy of the left upper limb with progressive worsening for about 6 months. We performed electrophysiological studies that showed severe neurogenic atrophy involving the C7-T1 left myotomes. Brain and spine MRI performed showed flattening of the lower cervical cord and dura mater anterior displacement during cervical flexion. These findings were consistent with the diagnosis of Hirayama disease.