Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities

Cobblestone brain malformation (COB) is a neuronal migration disorder characterized by protrusions of neurons beyond the first cortical layer at the pial surface of the brain. It is usually seen in association with dystroglycanopathy types of congenital muscular dystrophies (CMDs) and ocular abnormalities termed muscle-eye-brain disease. Here we report homozygous deleterious mutations in LAMB1, encoding laminin subunit beta-1, in two families with autosomal-recessive COB. Affected individuals displayed a constellation of brain malformations including cortical gyral and white-matter signal abnormalities, severe cerebellar dysplasia, brainstem hypoplasia, and occipital encephalocele, but they had less apparent ocular or muscular abnormalities than are typically observed in COB. LAMB1 is localized to the pial basement membrane, suggesting that defective connection between radial glial cells and the pial surface mediated by LAMB1 leads to this malformation

Severe neurological complications of chickenpox - report of four cases

Neurological complications caused by chickenpox are estimated as approximately 0.01%-0.03%. Frequent complications related to central nerve system involvement are cerebellar ataxia and encephalitis, and rare complications are transverse myelitis, aseptic meningitis, Guillian-Barré syndrome, meningoencephalitis, ventriculitis, optic neuritis, post-hepatic neuralgia, herpes zoster ophalmicus, delayed controlateral hemiparesis, peripheral motor neuropathy, cerebral angitis, Reye syndrome and facial paralysis. In present study, additional four cases were presented who diagnosed as chickenpox within one year and developed neurological complications. Cerebellar ataxia developed in two of our cases while cerebellar ataxia plus encephalitis was present in one case and peripheral type facial paralysis in the other

Tuberous sclerosis and acute hydrocephalus

Tuberous sclerosis complex is a neurocutaneous and autosomal dominant disease characterized by multiple hamartomas in multiple viscera. It results from spontaneous mutation. The genetic anomaly is usually linked to the 9th chromosome. It may be accompanied by early childhood seizures, multiple brain tumors, skin lesions, angiomyolipomas in the kidneys and liver and rhabdomyomas. A careful physical examination, computerized tomography (CT) and magnetic resonance imaging (MRI) scans of the brain are essential in its diagnosis. In this study, we presented a 16 year old girl who was brought to our emergency service room due to acute loss of conscious and then underwent to ventriculo-peritoneal (V-P) shunt procedure after she had been diagnosed as acute hydrocephalus. The patient had been operated for intracranial mass when she was 2 years old and postoperative pathological diagnosis was established to be subepandimal giant cell astrocytoma (SGCA)

ALSTRÖM SYNDROME ASSOCIATED WITH CEREBRAL INVOLVEMENT: AN UNUSUAL PRESENTATION

Alström syndrome (AS) is a rare autosomal recessive disorder, characterized by retinal degeneration, progressive hearing impairment, truncal obesity and non-insulin dependent diabetes mellitus. A 6-year-old girl was admitted with aphasia, deafness, strabismus, abdominal distention, and weakness on the right body side. The physical and laboratory examination revealed psychomotor retardation, right hemiparesis, sensorioneural hearing loss, aphasia, eye and teeth abnormalities, hyperpigmentation, truncal obesity, hepatosplenomegaly, severe iron deficiency anemia, delayed bone age, and cerebral hemiatrophy. Based on these abnormal findings she was diagnosed as AS. According to our knowledge this is the first case of AS with cerebral involvement. This last finding may be a component of the syndrome

Assessment of nutritional status: Triceps and subscapular skin-fold thickness in Turkish children and adolescent

Objectives: To determine the mean and percentile values and constitute the percentile curves of the triceps and subscapular skin-fold thickness (SFT) for obtaining a measure to be used in evaluating nutritional status of children and adolescents for age and gender to determine the threat of adiposity in Turkish children. Methodology: This cross-sectional study was carried out between October 2006 and May 2007 with 6917 students selected among those with pre-defined socio-economic criteria and attending primary schools in Van city center. Based on these data, the subjects were distributed to age groups in 6-month intervals, beginning from the age of 7 up to the age of 17. Results: Analysis of mean values of the thickness of triceps and subscapular SFT according to age in boy subjects demonstrated that these values generally increased with age up to thirteen years of age where peak values were observed, and the thickness decreased between 14 and 15 years of age, increasing again thereafter. A comparison of our data with the data reported from other countries revealed lower than median values of triceps and subscapular SFT in our study for both girls and boys regardless of the age group. Conclusions: Subcutaneous fat accumulation is lower in Turkish children compared to those in other countries and no risk of obesity is imminent, at least in the region where this study was carried out