Abstract Background We use the Sleep Disturbance Scale for Children (SDSC) routinely as a tool for evaluating children's sleep quality in our pediatric neurology clinic. We analyzed at its ability to ...detect sleep disturbances distinctive to selected neurological disorders. Patients One-hundred and eighty-six children (age range 2-18 years) who were evaluated by the SDSC questionnaire were divided into three groups according to their principal diagnosis: epilepsy, attention deficit hyperactivity disorder, or others. Their responses were analyzed. Results The average frequency of abnormal total sleep score was 26.9%. The most frequent sleep disorders were excessive somnolence (25.3%), initiating and maintaining sleep (24.7%), and arousal/nightmares (23.1%). There were no significant group differences for total scores or sleep disorder–specific scores; although a sleep–wake transition disorder was more frequent among children with epilepsy (31%). A literature search revealed that the frequency of abnormal total scores in several neurological disorders (e.g., epilepsy, cerebral palsy) ranges between 20% and 30%. Conclusions The mechanism underlying sleep disturbances in many neurological disorders may be unrelated to that of the primary disease but rather originate from nonspecific or environmental factors (e.g., familial/social customs and habits, temperament, psychological parameters). Although the SDSC is noninformative for studying the effect of a specific neurological disorder on sleep, we still recommend its implementation for screening for sleep disturbances in children with neurological abnormalities.
Abstract This study sought to describe the occurrence and potential significance of white matter abnormalities of unknown cause on pediatric cranial magnetic resonance scans, and to review the ...literature. We included 16 children in whom white matter abnormalities were incidentally revealed on magnetic resonance scans performed during a 7-year period at a tertiary pediatric medical center. Background data were retrospectively collected from medical files. White matter lesions were classified by size, location, and extent. Indications for imaging included convulsive disorder (n = 5), headache (n = 5), endocrine disorder (n = 4), and others. Patients' abnormalities did not correlate with the locations and patterns of white matter lesions. No changes in lesions were evident over time. Given the absence of evident benefits from repeated imaging studies, we suggest they are not warranted in every patient, and should be tailored according to clinical course. Further investigations of incidental intracranial findings are required in this age group.
Abstract Postnatal microcephaly is defined as normal head circumference at birth, which progressively declines to more than 2 standard deviations below the average for the patient’s age and sex. We ...describe four patients from three consanguineous families of Arab Bedouin origin who presented with autosomal recessive inheritance of progressive microcephaly, spasticity, thin corpus callosum, pyramidal signs, and intellectual disability. Homozygosity mapping (Human Mapping Nsp I 250K arrays, Affymetrix, Santa Clara, CA) placed the disease locus at 8q23.2-q24.12. The candidate region includes 22 known or predicted genes, including RAD21 , which is related to the cohesion complex EIF3H , which is involved in translation initiation, and TAF2 , which may be involved in intellectual disability. Identification of the causative gene in our reported family will shed light on the pathogenesis of this severe condition.
In the case of an asymptomatic 10-year-old girl with neurofibromatosis type 1, a concomitant cystic brain lesion was demonstrated on cranial magnetic resonance imaging. The nature of these cysts is ...unknown: they may represent cellular degeneration of the lesions imaged as unidentified bright objects, cystic cortical dysplasia, or giant Virchow-Robin spaces. The novel finding in this child of coexisting unusual cystic lesion and neurofibromatosis could be coincidental; however, recent report of an asymptomatic cystic lesion in two patients with neurofibromatosis suggests otherwise.
Benign neonatal sleep myoclonus is a nonepileptic syndrome characterized by myoclonic jerks during sleep. It occurs in the first weeks of life and disappears, in most cases, within 3 months. There ...are no sequelae, and psychomotor and cognitive development are normal. The syndrome is usually sporadic; only a few familial cases have been reported in the literature. This case report describes three members of a single family with benign neonatal sleep myoclonus and discusses its differentiation from other types of myoclonus.
Syncope affects all age groups and is characterized by a brief sudden loss of consciousness followed by fast recovery. Vasovagal syncope, the most common type, is generally assumed to be due to ...venous pooling and an abnormal sympathetic response. In approximately 20% of cases, more than one family member is affected. Vasovagal syncope has been documented in a high proportion of patients with migraine. Three generations of a family with comorbid vasovagal syncope and migraine are described. Data were collected from the medical files (index patient and eight siblings) and interviews with the patient's mother. Information was available for 21 family members. Eleven of the 14 family members with a diagnosis of migraine (78%) also had vasovagal syncope, and 11 of the 12 family members with vasovagal syncope (92%) also had migraine. Age at first episode of syncope ranged from 2 to 7 years; age at first migraine headache was less than 10 years in most cases. The high incidence rates combined with the lack of gender predominance may point to a possible common pathophysiology of the two disorders and, perhaps, an autosomal dominant mode of inheritance. Further investigations are needed to corroborate a genetic link.
The optic pathway glioma uniquely involves the optic pathway in a relatively constant pattern, allowing for recurrent measurements of its extent and comparison within patients with the same ...diagnosis. Its natural history, however, is unpredictable. We sought to formulate an empirical score to quantify optic-pathway involvement and disease course. The sample comprised 23 children with a diagnosis of optic-pathway glioma who attended a pediatric tertiary medical center from 1975-2004 and underwent at least two annual magnetic resonance imaging examinations over an average of 7 years. Each scan was evaluated for the larger diameters of intraorbital and retro-orbital parts of the optic nerve, chiasma, and optic tract. Findings were analyzed by time from diagnosis. In untreated children, tumors generally remained stable for about 3 years, and diminished thereafter. Children with neurofibromatosis-1 had a better course than children with sporadic disease. Young children fared similarly to older ones. Worse outcomes occurred in children who eventually required treatment; this group might have done better with earlier diagnosis, and requires careful follow-up. Our new empirical score can define the natural history of optic-pathway gliomas, and identify prognostic factors. It may help identify tumors in neurofibromatosis-1 children who potentially require treatment.
Our aim was to determine the rate of focal lesions of the corpus callosum in children with neurofibromatosis type 1, and to characterize their natural history. Magnetic resonance imaging scans of the ...brain in 79 children with neurofibromatosis type 1 who were followed at the Neurology Clinic of Schneider Children's Medical Center (Petah Tiqwa, Israel) from 1990-2005 were reviewed. Focal lesions of the corpus callosum were identified in 11 (14%). These included unidentified bright objects in 7 patients (9%), and a neoplastic process in 4 (5%). Follow-up ranged from 1-16 years. Two of 4 tumors had enlarged during follow-up, and one was excised. Neurofibromatosis type 1 may be associated with a 14% prevalence of corpus callosum lesions. Owing to the apparently high frequency of callosal neoplasms in this population (5% in our series), and their tendency to enlarge, careful evaluation and prolonged follow-up are warranted.
A 14-year-old male sustained neck trauma during a fight at school. Torticollis developed immediately afterwards, followed by axial dystonia and camptocormia. Thorough evaluation for etiology or ...background disease, including psychiatric examination, was negative except for the recent trauma. Antidystonia medications, administered after significant worsening of the symptoms, led to improvement. Dystonia and camptocormia resulting from trauma are rare presentations in childhood and adolescence.
