Primary microcephaly in Hungary: epidemiology and clinical features.

Aim: To describe the population-based epidemiological characteristics and clinical features of primary microcephaly in Hungary.

Methods: A retrospective survey of patients born with microcephaly in a region (Dél-Alföld - South Great Plain) in Hungary between July 1, 1992 and June 30, 2006 was performed. Patients with microcephaly and without any environmental or obstetric risk factors and/or dysmorphism (primary microcephaly) were included in the study.

Myelination disturbance in a patient with hyperuricemia and hyperserotoninemia combined with 18q deletion syndrome.

We previously reported a male patient with an 18q21.3 deletion, hyperuricemia and typical symptoms of the Lesch-Nyhan syndrome who lacked hypoxanthine-guanine-phosphoribosyl-transferase (HGPRT) deficiency. The patient developed progressive peripheral neuropathy in additon to his profound mental retardation and self-injurious behavior.

99-mTc-HMPAO single photon emission computed tomography examinations in genetically determined neurometabolic disorders.

Unlabelled: The aim of our study was to determine regional cerebral blood flow (rCBF) abnormalities in different types of enzymopathies.

Patients And Methods: Among the patients with genetically determined enzymopathies 3 patients had aminoacidopathies, and 11 had different types of encephalopathies, from which 10 had mitochondrial encephalomyopathy (MEMP), and 1 patient had hyperuricaemic encephalopathy. Besides the mentioned 14 patients, 1 had ceroid lipofuscinosis and another patient had tuberous sclerosis.