Clinical spectrum associated with some structural cerebellar abnormalities

To review the clinical, neuroimaging, cytogenetic, and biochemical studies obtained in 20 patients with different cerebellar structural abnormalities presenting at variable ages of onset with variable signs and symptoms. These patients visited the Clinical Genetics Department, National Research Center, Cairo, Egypt during the period from September 2002 to September 2003. All patients were subjected to complete personal and family history taking 3 generation family pedigree construction and full clinical examination, including complete eye evaluation. Metabolic screening, chromosomal examination and brain CT or MRI, or both, were also carried out. Patients with cerebellar structural abnormalities were broadly divided into those with cerebellar hypoplasia [15 patients; 75%], cerebellar atrophy [3 patients; 15%] and cerebellar white matter abnormalities [2 patients; 10%]. Further, cerebellar hypoplasia was subdivided into cerebello-vermal hypoplasia [4 patients; 20%], vermal-cerebellar hypoplasia [3 patients; 15%] and associated with involvement of other features such as brain stem [4 patients; 20%], posterior fossa [1 patient; 5%]; and intracranial calcification [3 patients; 15%]. This study showed that the type of cerebellar structural abnormality is not the main determining factor of the clinical outcome, but rather the underlying etiology. A high incidence of mostly autosomal-recessive inheritance was diagnosed in 65% of the patients with cerebellar structural abnormalities. Nevertheless, the high rate of consanguinity [18 cases; 90%] with mean inbreeding coefficient of 0.05312 and the similarly affected sibs highlights the role of the autosomal recessive gene in our country

Hallervorden-Spatz syndrome Variable imaging findings

Authors describe clinical features, CT scan and MRI findings of 4 Egyptian boys [3 brothers from one sibship and a sporadic case] with Hallervorden-Spatz syndrome [HSS]. These patients presented around the age of 10-years-old with rigidity, dystonia, dysarthria, mental deterioration with loss of previously acquired skills and choreoathetotic movements. The 3 brothers developed seizures around the age of 16 and the older brother died at the age of 20. Although, the CT scan of the 3 brothers showed bilateral symmetrical calcification of the basal ganglia, the MRI of the 4 cases demonstrated bilateral symmetrical hyperintense areas surrounded by hypointense areas in the globus pallidus giving the characteristic "eye-of-the-tiger" sign. Based on the clinical and MRI picture, these 4 cases could be the atypical type of HSS. However, calcification of globus pallidus is an associated finding in these cases. This is the second report in the literature with this association. In addition, we present the results of the use of antioxidants, L-dopa and Botulinum toxin injections in the management of these cases