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.
Acute cerebellitis is a rare inflammatory syndrome, often characterized by cerebellar dysfunction of rapid onset. We describe two children, a girl aged 5 years and a boy aged 11 years, with acute ...cerebellitis. Both manifested tonsillar herniation and hydrocephalus. The cause was Mycoplasma pneumoniae infection in the first patient, and unknown in the second. The girl was treated conservatively with steroids and diuretics, as well as vibramycin, and the boy required insertion of a ventriculostomy. Both presented a good prognosis and full recovery.
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.
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.
