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We describe a distinctive epilepsy syndrome in six families, which is the first partial epilepsy syndrome to follow single gene inheritance. The predominant seizure pattern had frontal lobe seizure semiology with clusters of brief motor attacks occurring in sleep. Onset was usually in childhood, often persisting through adult life. Misdiagnosis as night terrors, nightmares, hysteria, or paroxysmal nocturnal dystonia was common, and the inheritance pattern was often not appreciated. This autosomal dominant epilepsy syndrome is ideal for identification of partial epilepsy genes.

We reviewed the outcome of corpus callosal section in 64 adult and pediatric patients to identify factors associated with a good outcome: 48% of patients had a favorable outcome for overall seizure frequency. Improvement was noted in several seizure types and was most likely for drop attacks, particularly in the setting of a unilateral focal cerebral lesion or a true generalized epilepsy of Lennox-Gastaut type. Poor outcomes for drop attacks were more likely if there was associated severe intellectual handicap or bilateral independent spikes on interictal EEG. Complex partial seizures (CPS), most commonly of frontal lobe origin, also responded favorably. The complications of callosal section were usually mild and transient. New focal seizures occurred in only 2 patients and were not as frequent or disabling as preoperative seizures types. A worthwhile improvement in seizure outcome was achieved by completion of the callosotomy in 6 of 10 patients with unsatisfactory results from anterior callosotomy.

SUMMARY The clinical course of two female siblings with congenital muscular dystrophy is briefly described, and includes congenital cerebral malformations consisting of pachygyria, polymicrogyria and white matter abnormalities. The first sibling died in infancy; the second is now 18 years of age. The changes found at autopsy in the first sibling are identical to MRI changes in the surviving sibling. RESUME Dystrophie musculaire congenitale de Fukuyama chez deux soeurs Australiennes L'evolution clinique d'une dystrophie musculaire congenitale chez deux soeurs est briEvement decrite, incluant les malformations cerebrales congenitales consistant en pachygyrie, polymicrogyrie et desanomalies de la substance blanche. L'une des soeurs mourut durant la premiEre enfance; la secondeest agee maintenant de 18 ans. Les donnees d'autopsie de la premiEre soeur sont identiques aux donnees IRM actuelles de la soeur survivante. ZUSAMMENFASSUNG Kongenitale Muskeldystrophie Fukuyama bei zwei Australische Schwestern Es wird der klinische Verlauf bei zwei Schwestern mit kongenitaler Muskeldystrophie kurz beschrieben. Die kongenitalen cerebralen MiBbildungen waren Pachygyrie, Polymikrogyrie undVeraanderungen der weisen Hirnsubstanz. Das erste Kind starb im Kindesalter; das zweite ist jetzt 18 Jahre alt. Die Veranderungen, die bei der Autopsie des ersten Kindes gefunden wurden, entsprechenden Veranderungen im MRI des noch lebenden Kindes. RESUMEN Distrofia muscular congenita de Fukuyama en dos hermanas Australianas Se describe brevemente el curso clinico de dos hermanas con distrofia muscular congenita, y conmalformaciones congenitas cerebrales consistentes en paquigiria, polimicrogiria y anomalias de la substancia blanca. La primera hermana falleciO en la epoca de la lactancia y la segunda tiene ahora 18 anos de edad. Las alteraciones halladas en la autopsia de la primera son identicas a los cambiosen la IRM vistos en la superviviente.

Kinetics of catecholamine biosynthesis and metabolism have been examined in patients with hereditary progressive dystonia with marked diurnal fluctuation of symptoms (HPD, Segawa's disease). Three patients and a healthy control received an oral load of deuterated tyrosine, and monodeuterium labelled catecholamines and their metabolites in urine and plasma were examined by gas chromatography-mass spectrometry. Patients excreted normal amounts of the primary metabolites of dopamine (dihydroxyphenylacetic acid, homovanillic acid) in urine, suggesting normal rates of dopamine production. However, the biological half-life of dopamine in the patients was reduced to about half that of controls. Noradrenaline biosynthesis and metabolism were normal. Taken together, these results are interpreted to show a reduced biological half-life of dopamine in the brains of these patients, possibly caused by a defect in dopamine storage. Impaired dopamine storage may be the basis of the diurnal fluctuation in symptoms.

A 4-month-old boy presented with symptoms and signs characteristic of infant botulism. Examination of feces revealed Clostridium botulinum type B and type B toxin. The numbers of C. botulinum and the amount of toxin in feces were measured throughout the 4-week period in hospital. The maximum numbers and amounts were detected in a fecal specimen collected 16 days after admission: this contained 8.4 X 10(6) C. botulinum type B colony-forming units and 61,440 mouse 100% lethal doses of type B toxin per g (wet weight) of feces. This latter figure is the highest fecal toxin titer reported yet for a case of infant botulism. By day 16, however, substantial improvement in the patient's clinical condition had occurred. This suggests that initiation of recovery from infant botulism is not necessarily preceded by a reduction in the numbers of C. botulinum organisms and the quantity of toxin in the gut.

We describe a man with Becker muscular dystrophy whose weakness was minimal in contrast to that of his more severely affected nephews. This man had a Klinefelter karyotype (47,XXY) and his mild symptoms may be attributed to him being heterozygous for the muscular dystrophy gene. This is the first report of a person with both Klinefelter's syndrome and Becker muscular dystrophy. This combination may be one explanation for the variable expression of X linked muscular dystrophy noted in some pedigrees.

In children, the blood level of phenytoin was found to be significantly higher when 100 mg capsules rather than 100 mg tablets were administered. When, on the other hand, 30 mg capsules and tablets were compared; the situation was reversed; tablets produced significantly higher blood levels of phenytoin than did the capsules. The significance and possible explantation of these findings are discussed.

A case of pneumococcal meningitis complicated by brain-stem herniation and flaccid quadriplegia is described, from which the patient, an 11 year old boy, made a partial recovery. The patient had suffered a head injury with skull fracture some years previously; this was his third episode of meningitis. The aetiology of the quadriplegia has not been fully established, but is presumed to be of vascular nature at spinal cord level, associated with an acute hypotensive episode. Preventative aspects of recurrent bacterial meningitis and brain-stem herniation following lumbar puncture are stressed.

In recent years the auditory brainstem evoked response (BSER) has become an established aid in assessing hearing in unco-operative subjects. We have reviewed our experience with this technique in 293 infants and children aged less than 11 years. We have found that the threshold for click BSER correlates well with the average audiometric threshold in the 2-4 kHz range. We have had encouraging preliminary experience to support the claim by other workers that 500 Hz stimuli may be used to assess low tone auditory function. In interpreting results it is important to appreciate that hearing levels may fluctuate with disorders such as otitis media and occasionally in cases of meningitis. Caution is also advised in interpreting results in cases where central nervous system pathology capable of affecting auditory pathways is known to exist.

Auditory brainstem-evoked responses were recorded from 14 children with clinical and radiological evidence of brainstem glioma. Responses were abnormal in all cases. The findings were consistent with intrinsic brainstem lesions in all except one case with a glioma, which was shown to be located predominantly in the medulla oblongata. Seven of the children had more than one test and changes in the responses paralleled clinical changes in all except the case with glioma of the medulla. The usefulness of auditory brainstem-evoked responses as an aid in diagnosing and monitoring changes in brainstem gliomas is discussed.

Two-dimensional echoencephalography is a useful procedure in screening young infants for hydrocephalus and cerebral malformation. The procedure is noninvasive and easily repeated. The procedure is less reliable in detecting mass lesions except insofar as they disturb the anatomy of the ventricular system. The procedure can be considered as complementary to computerised axial tomography in the investigation of cerebral anatomy in paediatric neurology.

A case of the exclusively breast-fed infant of a vegetarian mother is reported. Neurological deterioration commenced between three and six months of age, and progressed to a comatose premoribund state by the age of nine months. Investigations revealed a mild nutritional vitamin B12 deficiency in the mother, and a very severe nutritional B12 deficiency in the infant, with severe megaloblastic anaemia. Treatment of the infant with vitamin B12 resulted in a rapid clinical and haematological improvement, but neurological recovery was incomplete. Evidence is presented that dietary B12 deficiency was the sole cause of the infant's deterioration, and the literature relating to the condition is reviewed. It is recommended that all strict vegetarians (vegans), especially women in the child-bearing age group, take vitamin B12 supplements.

A slow component of the auditory brainstem response (BSER) to broad band clicks was revealed in a case of high frequency hearing loss. The latency, morphology, and threshold level characteristics of the response resembled those for the slow wave response (SWR) to 500 Hz tone pips. The SWR to clicks appeared to be initiated by the cochlear partition below 2 kHz and was unmasked by a hearing loss at 2 kHz and above. With click stimuli at intensities above the 2 kHz hearing thresholds, wave V dominated the response to clicks, thus supporting the evidence that wave V is initiated from the high frequency region of the cochlear partition. Caution is advised in interpreting threshold studies using click BSERs, as the SWR may be mistaken for a delayed wave V.

Three of five siblings developed a progressive neurological disorder during infancy or early childhood characterized by cerebellar ataxia, choreoathetosis and peripheral neuropathy. Immunological studies revealed a marked selective deficiency of serum IgE in all three affected siblings. There was evidence of chromosomal instability in the three affected siblings and in one of the parents. One of the affected siblings also developed acute lymphoblastic leukaemia. In spite of many resemblances, this syndrome differs from classical or complete ataxia telangiectasia in that oculocutaneous telangiectases were lacking, the serum IgA and alpha-fetoprotein levels in this family were normal, there was no gonadal dysgenesis, and the cytogenetic findings were atypical.

An 18-month-old infant presented with a history of arrest of neurological development from the age of eight months, with progressive ataxia, deafness, retinitis pigmentosa and hepatomegaly. Biochemical investigations revealed an elevated plasma phytanic acid level and deficiency of phytanic acid oxidase in skin fibroblasts. Histopathological findings in a liver biopsy were similar to those reported in infantile phytanic acid storage disease. Unexpected findings were the presence of elevated levels of plasma pipecolic acid, and elevated plasma long-chain fatty acid ratios, biochemical findings previously considered to be diagnostic of Zellweger's hepato-cerebro-renal syndrome, and of adrenoleucodystrophy, respectively. Recent biochemical evidence suggests that this patient, and other similar cases that have recently come to our attention, may have a fundamental defect in the peroxisomal enzyme system.

A series of three infants with herpes simplex encephalitis is reported, together with details of treatment with adenine arabinoside and cytosine arabinoside. The former appears to be the most effective treatment available. A more aggressive approach is urged in the diagnosis and treatment of this serious infantile disorder.