ABSTRACT
Management of hereditary neuropathy with liability to pressure palsy (HNPP) is primarily conservative, aimed at preventing nerve injury by avoiding trauma or other potential aggravating factors. No pharmacological treatment is known to be beneficial. We describe two adolescents, one with HNPP (male; aged 15y) and another with a clinical picture suggestive of HNPP (genetically unconfirmed; female; aged 14y), who showed considerable improvement of their symptoms after receiving corticosteroid therapy. Both individuals were symptomatic for at least 5 months before the treatment. Following corticosteroids, both individuals demonstrated rapid improvement leading to near-complete recovery of muscle power. Clinical improvement after corticosteroid therapy has been reported in some individuals with other hereditary neuropathies. Our cases demonstrate that corticosteroid therapy may also be beneficial in individuals with HNPP who have a protracted or incomplete course of recovery.
Subject(s)
Adrenal Cortex Hormones/therapeutic use , Paralysis/drug therapy , Peripheral Nervous System Diseases/drug therapy , Pressure/adverse effects , Adolescent , Female , Functional Laterality , Humans , Magnetic Resonance Imaging , Male , Neural Conduction/physiology , Paralysis/physiopathology , Peripheral Nervous System Diseases/complications , Peripheral Nervous System Diseases/physiopathology , Spinal Cord/pathologyABSTRACT
Male patients with large duplications of the methyl CpG-binding protein 2 (MECP2) gene have been identified with a characteristic phenotype consisting of infantile hypotonia replaced by spasticity, developmental delay, severe mental retardation and recurrent respiratory infections. Only one patient with MECP2 triplication, with a more severe phenotype has been reported so far. We report three brothers of unrelated parents with MECP2 triplication. Their phenotypic features include macrocephaly with large ears, infantile hypotonia, developmental delay, significant constipation, recurrent severe respiratory tract infections from early childhood, and seizures followed by neurological regression in late childhood. Our cases indicate that MECP2 triplication is similar to or more severe than that of MECP2 duplication syndrome.
Subject(s)
Methyl-CpG-Binding Protein 2/genetics , Mutation/physiology , Nervous System Diseases/genetics , Adolescent , Constipation/etiology , Constipation/genetics , Developmental Disabilities/etiology , Developmental Disabilities/genetics , Disease Progression , Ear/abnormalities , Fatal Outcome , Gene Duplication , Humans , In Situ Hybridization, Fluorescence , Infant, Newborn , Male , Megalencephaly/etiology , Muscle Hypotonia/etiology , Muscle Hypotonia/genetics , Nervous System Diseases/complications , Nervous System Diseases/physiopathology , Phenotype , Respiratory Tract Infections/etiology , Respiratory Tract Infections/genetics , Seizures/etiology , Seizures/geneticsABSTRACT
The relationship between specific epilepsy syndromes and particular sleep symptoms has not been well delineated. The authors' aim was to test the hypothesis that children with rolandic epilepsy exhibit more frequent sleep problems and daytime sleepiness compared with children without epilepsy. They compared parent-reported sleep behaviors of 43 children with rolandic epilepsy aged 6 to 16 years recruited from 5 US pediatric neurology centers with a historical reference and sleep clinic sample using the Child Sleep Habits Questionnaire. The authors compared the differences in mean frequency of sleep problems and patterns. Total Children's Sleep Habits Questionnaire scores were significantly higher (P < .001) in the rolandic epilepsy sample than reference. Parents of children with rolandic epilepsy reported a significantly shorter sleep duration (P < .006), more frequent parasomnias (P < .008), and increased daytime sleepiness (P < .001). Thus, parents of children with rolandic epilepsy reported more problematic sleep and daytime impairment compared with a reference sample of children.
