The impact of Pelizaeus-Merzbacher disease on the family.

The impact of Pelizaeus-Merzbacher disease on families and caregivers of affected children has not been well-studied. Parents, relatives, and caregivers from 18 families with 20 affected children with Pelizaeus-Merzbacher disease were asked to complete the Children's Health Questionnaire-Parent Form 50, an instrument used to assess health-related quality of life in children and family impact of illness. Mean and standard deviation (S.D.) of subscale scores were calculated and compared with previously published norms. Agreement between mothers and fathers was calculated using Cronbach's test. Mean scale scores in this cohort were lower than previously published norms for the following categories: physical function (25.9 vs 96.1, >2 S.D.); family activity (55.6 vs 89.7, >1 S.D.); and parental time impact (66.2 vs 87.8, >1 S.D.). However, family cohesion (73.3 vs 72.3, <1 S.D.), self-esteem (71.1 vs 79.8, <1 S.D.), behavior (78.9 vs 75.6, <1 S.D.), and mental health scale scores (74.2 vs 78.5, <1 S.D.) were similar to previously published norms. Parental agreement was poor, with 5 of 8 parent pairs (63%) differing in their responses (<0.7) Although impact on caregiver time and limitation of physical function and family activities is high, parents and caregivers in the cohort appear to remain cohesive and view their children's psychosocial health as similar to normal children.

Clinical findings in Pelizaeus-Merzbacher disease.

Pelizaeus-Merzbacher disease is a rare X-linked disease characterized by defective central nervous system myelination owing to a mutation in the proteolipid protein 1 gene. Few studies report detailed clinical findings in children with genetic confirmation of mutations in the proteolipid protein 1 gene. We reviewed the records of 10 boys with Pelizaeus-Merzbacher disease and one symptomatic carrier girl. Their median age was 2 1/2 years (range 10 months to 20 years). Nine had proteolipid protein 1 gene duplications, one had a point mutation, and one had a single codon deletion. The families of eight patients reported perinatal complications, including maternal hypertension (three patients) and meconium aspiration (three patients). All of the patients were social and interactive, but all had difficulty with expressive speech. All patients presented with nystagmus and had hypotonia that progressed to spasticity, affecting the legs more than the arms; ataxia also contributed to motor impairment. Additional problems reported regarded feeding (eight patients) and sleep (three patients). Further work is needed to clarify the variations in disease course and the relationship of genotype to phenotype.

Anatomy of the brainstem.

Understanding the anatomy of the brainstem is essential when evaluating disorders of swallowing and breathing. We present a review of the neuroanatomy of the brainstem and related cranial nerves.

From swelling to sclerosis: acute change in mesial hippocampus after prolonged febrile seizure.

Mesial temporal sclerosis (MTS) has been linked to prolonged febrile seizures. The sequence of changes in the temporal lobe/hippocampus following prolonged febrile seizures and status epilepticus is beginning to be elucidated. We obtained repeated magnetic resonance imaging (MRI) volumetric analysis of the hippocampi in a 23-month-old boy after a prolonged focal febrile seizure. Three days after a prolonged left focal febrile seizure, brain MRI showed increased T2 weighted signal and increased volume (swelling) of the right hippocampus. Repeat MRI 2 months later demonstrated sclerosis of the right hippocampus. Review of the literature shows four other children with prolonged focal seizures associated with the MRI sequence of temporal lobe swelling followed by sclerosis. All had left focal seizures followed by right MTS. Our patient demonstrates a shorter interval for the radiologic development of hippocampal sclerosis compared to other reports.