Heterogeneity of X-linked recessive (spino)cerebellar ataxia with or without spastic diplegia.

Ataxia with spastic diplegia was seen in seven males of a Turkish family, obviously transmitted as an X-linked recessive trait. The first clinical sign in infancy was nystagmus; ataxia and pyramidal signs were noted at age 2-3 years. Patients were never able to walk. Dysarthria, orthopedic impairment, and mild mental retardation appeared later as the disorder progressed. Death occurred in the 3rd or 4th decade from infectious diseases. The syndrome resembles X-linked spinocerebellar ataxia and X-linked spastic paraplegia in some aspects but is different if compared with previously published reports. Laboratory and neurophysiological studies showed no abnormalities. Various aspects of X-linked ataxia are discussed: genetic heterogeneity is apparent from observations reported.

Thalamic hyperdensity--is it a diagnostic marker for Sandhoff disease?

Sandhoff disease, also known as GM2-gangliosidoses variant 0, is caused by the deficient activity of both hexosaminidase A and hexosaminidase B. We report a 15-month-old boy diagnosed with Sandhoff disease by demonstrating the enzyme deficiency. The interesting finding was bilateral thalamic hyperdensity on the CT scan. The hyperdensity in all previously published cases was homogeneous and symmetric and limited to the thalamus; the cause still remains unknown. We suggest that the finding of dense thalami may be useful as a specific diagnostic criterion for the GM2-gangliosidoses and especially for Sandhoff disease.

Classification of epilepsies and epileptic syndromes in a child neurology unit.

We attempted to classify, according to the 1989 International Classification of Epilepsies and Epileptic Syndromes, 1076 patients examined during a 4-year period (1 January 1988 to 31 December 1991) in the Child Neurology Unit. We aimed to determine the proportion of the clearly defined epileptic syndromes or the non-specific categories of the International Classification of Epilepsies and Epileptic Syndromes, to estimate the relative incidence of different categories and to review the criteria for defining epileptic syndromes. The proportion in categories as defined by the International Classification of Epilepsies and Epileptic Syndromes in our patients was as follows. Localization-related epilepsies and syndromes: idiopathic 3.15%, symptomatic 17%, cryptogenic 9.20%. Generalized epilepsies and syndromes: idiopathic 20.35%, cryptogenic or symptomatic 14.68%, symptomatic 11.5%. Epilepsies and syndromes undetermined whether focal or generalized: with both generalized and focal seizures 7.8%, without unequivocal focal or generalized features 1.68%. Special syndromes: situation-related seizures: febrile convulsions 12.83%, isolated seizures or isolated status epilepticus 1.02%, seizures due to an acute toxic or metabolic event 1.20%. The presence of non-specific categories in the International Classification of Epilepsies and Epileptic Syndromes enables the categorization of all patients but it gives the false impression of diagnostic precision to what are essentially uncertain cases.

Infantile neuroaxonal dystrophy: diagnosis by skin biopsy.

A child who shows progressive motor and mental deterioration after the first year of life, who has pyramidal signs, marked muscle hypotonia, but no seizures, suggests to have infantile neuroaxonal dystrophy (INAD). Beyond the age of two years, the EEG also entails characteristic findings. Diagnosis may be obtained by an ultrastructural examination of biopsied skin. The respective clinical and morphological findings are recorded and illustrated from four patients in this report.

Congenital insensitivity to pain with anyhydrosis: morphological studies of skin and peripheral nerves.

Two male siblings born to consanguineous parents, with the diagnosis of congenital insensitivity to pain with anhydrosis are evaluated. The patients presented with unexplained bouts of fever, self-mutilation, repeated trauma and inability to sweat. Physical examination revealed both siblings to be insensitive to pain and temperature. The electron microscopic study of the skin was unremarkable whereas sural nerve biopsies yielded an essential lack of unmyelinated fibers.

Electrical status epilepticus lasting for 17 months without behavioural changes.

In an 8-year-old girl a seizure occurred, lasting 45 min with loss of consciousness and deviation of the eyes, 2 days after the onset of mumps. Next day the EEG showed bilateral, synchronized, continuous 2.5-3.5 c/sec spike-wave discharges, more prominent over the posterior regions. The abnormality was suppressed on eye opening and replaced by delta activity and short duration spike-wave paroxysms. Mental activity, hyperventilation, and photic stimulation did not change the pattern. The same EEG pattern persisted during daytime sleep. This picture has lasted for 17 months without any associated epileptic manifestations or behavioural disturbances. Psychometric tests and CAT scan were normal.

8-year clinical experience in cerebral palsy.

The changes in frequency and distribution of the clinical types of cerebral palsy (CP) were evaluated in 1873 CP cases admitted to the Department of Pediatric Neurology between 1982 and 1989. The observed panorama of CP was unlike the situation in developed countries. The majority of the cases were term-born and perinatal risk factors were noted to play the predominant role in the etiology of these cases. On the other hand, the most common type of CP was spastic quadriplegia where as spastic diplegia cases were less commonly encountered. These differences led us to conclude that the clinical panorama of CP might be an indicator of socio-economic development.

The acrocallosal syndrome in a Turkish boy.

A 6 month old Turkish boy with the acrocallosal syndrome is reported. The patient, born to consanguineous, healthy parents, presented with macrocephaly, a prominent forehead, hypertelorism, polydactyly of the fingers and toes, severe motor and mental retardation, hypotonia, and absence of the corpus callosum. The mode of inheritance is discussed and our case is compared with previously reported cases of the syndrome.

Continuous muscle fiber activity syndrome.

A 5.5 year old Turkish boy who suffered from progressive muscle stiffness was diagnosed as having continuous muscle fiber activity syndrome. Electromyography showed continuous motor neuron activity at rest and following intravenous injection of diazepam. Peripheral nerve block, spinal and general anesthesia diminished the spontaneous activities. The clinical and electrophysiological findings of our case were compared to the previously reported cases with emphasis on the heterogeneity of the syndrome.

Multiple pineal cysts associated with an ependymal cyst presenting with infantile spasm.

We present a unique case of infantile spasm in a patient with multiple pineal cysts associated with an ependymal cyst. Such a morphological etiology, to our knowledge, has not been described for patients with infantile spasm. Although postoperative neuroradiological studies demonstrated satisfactory surgical results, the patient continued to have seizures.