Ataxia-without-telangiectasia. Progressive multisystem degeneration with IgE deficiency and chromosomal instability.

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.

Cerebral tumors in children presenting with epilepsy.

The records of 20 children with seizures who had cerebral tumor confirmed histologically between 1979 and 1989 have been reviewed. These patients represented 2.9% of all children presenting with seizures. Forty percent were aged 15 months or younger, all of whom presented with partial seizures. Initial misdiagnosis of seizures occurred in 25% of these infants. Examination was normal in 75% of the study group. Behavior disturbance was present in 50%, with deterioration occurring in 60% of these. Electroencephalograms revealed focal abnormalities in 62% and generalized abnormalities in 25% when performed. Cranial ultrasound was performed in two cases, with false-negative results. Computed tomographic scan findings were not diagnostic of tumor in 40%. Magnetic resonance imaging confirmed the presence of tumor in all children in whom it was performed. Tumors most frequently involved the temporal lobes (55%) and the frontal lobes (40%). Surgical intervention resulted in considerable improvement in seizure control in 75%. Surgery is useful in the control of tumor-related seizures and should be considered early in the treatment of this disorder. Suspicion of tumor should increase when seizures are partial or refractory, particularly if intelligence and physical examination are normal or if there is progressive deterioration in behavior. The most appropriate type of brain imaging is magnetic resonance imaging scan.

Temporal lobe epilepsy in childhood: reappraisal of etiology and outcome.

This article reports the neurologic and psychologic findings, seizure characteristics, family histories, and etiology of clinically and electroencephalographically defined temporal lobe epilepsy in 63 children who were studied retrospectively. Subsequent data were available for 53 patients (84%), 15 of whom had undergone temporal lobectomies; 38 patients had been managed conservatively for at least 2 years. Previous, complicated febrile convulsions were the most common predisposing factor, occurring in 13 patients (21%), while 6 patients had tumors (10%). Of the 10 children whose onset of temporal lobe seizures occurred before 2 years of age, 5 had tumors. The presence of emotional or behavioral problems was related significantly to the presence of borderline or low intelligence, but not to the frequency of seizures. Although there was a tendency for a reduction in seizure frequency over time, only 10% of those managed by medical therapy alone were seizure-free at a mean subsequent examination interval of 6.6 years.

Neuroblastoma associated with seizures and arrested development.

Two unrelated cases of childhood peripheral neuroblastoma associated with infantile seizures and developmental problems (but without opsoclonus-myoclonus) are presented. The considerable body of evidence supporting the view that the opsoclonus-myoclonus syndrome associated with neuroblastoma has an immunologic basis is reviewed. Patients with neuroblastoma and opsoclonus-myoclonus syndrome commonly have subsequent developmental problems and, rarely, may have seizures. The authors postulate that the seizures and developmental problems in their two patients may result from an immunologic mechanism similar to that suggested for the opsoclonus-myoclonus syndrome of neuroblastoma. The only laboratory evidence to support an immunologic mechanism in these two patients was the presence of raised cerebrospinal fluid immunoglobulins in Patient 2. Specific antineuronal antibody tests in Patient 2 were negative. It is therefore possible that the association reported in these two unrelated cases is coincidental. However, reasonably extensive investigations did not uncover an alternative etiology for the presence of the seizures and developmental delay.

Spinal cord dysfunction with quadriplegia complicating pneumococcal meningitis.

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.

A slow wave auditory brainstem response to clicks in a case of high frequency hearing loss.

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.

Auditory brainstem evoked response as a hearing test in infants and children: a follow up study.

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.

Immunological abnormalities in the syndrome of poliomyelitis-like illness associated with acute bronchial asthma (Hopkin's syndrome).

In recent years an unusual syndrome of poliomyelitis-like illness, associated with acute bronchial asthma, has been reported from different parts of the world. A further 3 cases are described in this paper. Although the condition resembles poliomyelitis in most respects, particularly with regard to the severe permanent residual weakness usually observed, consistent evidence of a viral aetiology has not been forthcoming. Tests of immune function suggested the presence of varying degrees of nonspecific immune deficiency in our 3 patients, but evidence of viral invasion was inconclusive. It is suggested that a combination of immune deficiency with the stress of the acute asthma attack rendered the patients susceptible to invasion of the anterior horn cells by a viral agent, which may have been of external origin, or may have existed in a latent form within the host.

Testing hearing with the brain-stem evoked response.

The brain-stem electroencephalograph (EEG)-evoked response (BSER) constitutes a reliable and objective method of testing hearing in infants, and in uncooperative, or retarded patients. The procedure is harmless and painless, and involves recording the EEG brain-stem responses to clicks presented by headphones. The patient may be sedated, or even anaesthetized, if necessary. Because of the equipment and time involved, the procedure is not recommended as a routine screening procedure, but constitutes a valuable adjunct to conventional audiological testing, especially in doubtful cases.

Fukuyama congenital muscular dystrophy in two Australian female siblings.

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.

Quantitation of Clostridium botulinum organisms and toxin in the feces of an infant with botulism.

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.

Two-dimensional echoencephalography in paediatric neurology.

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.

Auditory brainstem-evoked response in childhood brainstem glioma.

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.

Infantile Refsum's disease: a peroxisomal storage disorder?

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.

Electron microscopy of skin and peripheral blood lymphocytes in infantile (Santavuori) neuronal ceroid lipofuscinosis.

Skin punch biopsies and peripheral blood lymphocyte preparations from two siblings with early infantile (Santavuori) neuronal ceroid lipofuscinosis have been examined by electron microscopy. In both cases characteristic osmiophilic inclusion bodies were found in various cells in the skin and in lymphocytes. In one case, lymphocyte inclusions were detected before the onset of any symptoms as a result of a family study. This indicates the possibility of screening lymphocytes of siblings of affected patients as a result of a family study. This indicates the possibility of screening lymphocytes of siblings of affected patients with a view to early detection of the disorder.

Herpes simplex encephalitis: treatment with adenine arabinoside and cytosine arabinoside.

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.