Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy.

OBJECTIVE: To report three unrelated infants with a distinctive phenotype of Leigh-like syndrome, neurogenic muscular atrophy, and hypertrophic obstructive cardiomyopathy. The patients all had a homozygous missense mutation in SCO2. BACKGROUND: SCO2 encodes a mitochondrial inner membrane protein, thought to function as a copper transporter to cytochrome c oxidase (COX), the terminal enzyme of the respiratory chain. Mutations in SCO2 have been described in patients with severe COX deficiency and early onset fatal infantile hypertrophic cardioencephalomyopathy. All patients so far reported are compound heterozygotes for a missense mutation (E140K) near the predicted CxxxC metal binding motif; however, recent functional studies of the homologous mutation in yeast failed to demonstrate an effect on respiration. METHODS: Here we present clinical, biochemical, morphologic, functional, MRI, and MRS data in two infants, and a short report in an additional patient, all carrying a homozygous G1541A transition (E140K). RESULTS: The disease onset and symptoms differed significantly from those in compound heterozygotes. MRI and muscle morphology demonstrated an age-dependent progression of disease with predominant involvement of white matter, late appearance of basal ganglia lesions, and neurogenic muscular atrophy in addition to the relatively late onset of hypertrophic cardiomyopathy. The copper uptake of cultured fibroblasts was significantly increased. CONCLUSIONS: The clinical spectrum of SCO2 deficiency includes the delayed development of hypertrophic obstructive cardiomyopathy and severe neurogenic muscular atrophy. There is increased copper uptake in patients' fibroblasts indicating that the G1541A mutation effects cellular copper metabolism.

The effects of a supratentorial mass lesion on brain-stem auditory evoked potentials and short latency somatosensory evoked potentials.

Nineteen patients with unilateral supratentorial mass lesion and without any evident clinical signs of transtentorial herniation were studied with Computed Tomography (CT), brain-stem evoked potentials (BAEPs) and central conduction time (CCT) of short latency somatosensory evoked potentials (SEPs). Sixteen had tumours, two had intracranial haematoma and one had chronic subdural haematoma. CT detected the initial signs of transtentorial herniation in every case. Preoperative I-V interpeak latency (IPL) was significantly (M + 2SD) prolonged in 26% of cases on the lesion side and in 21% of cases on the opposite side. The mean I-V IPL was significantly prolonged both on the lesion side and the opposite side (P less than 0.01, P less than 0.02, respectively). Suppression of Wave V (M-2SD) was seen only in two cases, however, the mean amplitude of Wave V was significantly decreased both on the lesion side and on the opposite side (P less than 0.001, P less than 0.01, respectively). CCT of SEPs was significantly (M + 2SD) prolonged in 33% of cases on the lesion side and in only 13% on the opposite side. The mean CCT was, however, significantly prolonged both on the lesion and on the opposite side (P less than 0.001, P less than 0.02, respectively). Postoperative I-V IPL was significantly prolonged in only 11% of cases while the mean I-V IPL was still significantly prolonged (P less than 0.01) and the mean amplitude of Wave V was still suppressed (P less than 0.001) on the lesion side.(ABSTRACT TRUNCATED AT 250 WORDS)

Evoked potentials in the Rett syndrome.

In order to have an electrophysiological approach to the pathogenesis of the Rett syndrome (RS), EEG testing together with evoked potential studies were performed in five children with RS, observed in our hospital during the last three years. All of the patients, aged from 18 months up to 4.5 years, had abnormal EEG: normal background activity with paroxysmal, epileptiform discharges was seen. In contrast with the abnormal EEGs, the evoked potentials were normal in each patient: brainstem auditory evoked potentials (BAEP), visual evoked potentials (VEP), and central conduction time (CCT) of somatosensory evoked potentials (SSEP). These findings together with the few previous ones suggest a predominantly gray matter pathophysiology in the early stages of RS.

Brain stem evoked potentials in childhood neurological diseases.

This review article tries to highlight the most important information available at present on the use of brainstem acoustic evoked potentials (BAEPs) in child neurology. It lists the main original papers with considerable materials and discusses the main territories of use in child neurology according to the diagnosis. Particular emphasis has been placed on the neurodegenerative and neurometabolic disorders, asphyxia, head trauma, brain tumours, autoimmune NS diseases and evaluation of dizziness. It summarizes the importance of BAEPs in child neurology relying, on the data from the literature and the experience and opinion of the author.

[Neurologic complications of childhood malignancies]. / Gyermekkori malignitások neurológiai szövödményei.

The authors summarize the neurological complications of childhood malignancies based on their own experiences and review of the literature. The clinical features, the diagnostic methods of choice and the therapies are listed briefly.

[The Angelman or "happy puppet" syndrome]. / Az Angelman vagy "happy puppet" syndromáról.

A case of Angelman's or "happy puppet" syndrome is described and detailed analysed, first time in our country. The literature is reviewed. The diagnostic criteria are presented. Evoked potential study and more than two years long EEG follow-up results are discussed. The unusual clinical feature of the described case is that epilepsy presented itself very early, in age of two weeks, by infantile spasms. It changed later to focal secunder generalised epilepsy. The EEG has been always abnormal during the follow-up, and the pattern has been changing by the age of the patient. On the other hand, the evoked potentials were all normals (BAEPs, VEP, SSEP CCT) "O"n the basis of the electrophysiological dichotomy the authors suggest a predominantly gray matter's disorder in Angelman's syndrome. They emphasize, that Angelman's syndrome has to be keep in evidence in the differential diagnosis of early infantile epilepsies. In the presented case the familial accumulation of movement's dyscoordinations, the dysmorphic features and subnormal intelligence of the brother support the possibility of the role of an autosomal recessive gene with different penetrance in the pathogenesis of Angelman's syndrome.

[Childhood dancing eye syndrome in occult neuroblastoma]. / Gyermekkori "dancing eyes syndroma" occult neuroblastomában.

The case of a two year-old boy is described with dancing eyes syndrome (DES) together with ganglioneuroblastoma. Surgical removal of the tumour and ACTH therapy resulted in rapid improvement, and an almost symptome-free condition. The literature is reviewed. Need of vigorous search for an occult neuroblastoma in DES is pointed out, since the early diagnosis and tumour's surgery can significantly improve the outcome.

[Ito hypomelanosis (incontinentia pigmenti achromians)]. / Hypomelanosis Ito (incontinentia pigmenti achromians).

Authors report the case of a white male patient suffering from a rare neurocutaneous dysplasia. Macrocrania and right ventricular dilation of the brain were present at birth. Motor milestones were delayed and epilepsy with staring spells started at the age of 6 months. On examination at 2 years of age hypopigmented areas of linear distribution were noted on the right extremities and on the right side of the trunk, beyond macrocrania, psychomotor and mental delay. Cranial MRI performed at 5 years of age proved predominantly right-sided megalencephaly, gray matter heterotopia within the right hemispherium and polymicrogyria in the perisylvian region. The EEG was characterized by high-amplitude rhythmic theta activity over the right frontal area. Hypomelanosis of Ito was diagnosed. Authors call attention on the importance of skin lesions in neuropediatric disorders, and give a brief review of the literature in hypomelanosis of Ito.

[Wernicke encephalopathy in childhood osteosarcoma]. / Gyermekkori osteosarcomában elöforduló Wernicke-encephalopathia.

Two children with osteosarcoma are presented in whom Wernicke encephalopathy with vomiting occurred during the chemotherapy. One of the children died with symptoms of toxic cardiomyopathy. Autopsy revealed Wernicke encephalopathy. The other child had similar symptoms (ocular signs, ataxia, somnolence). Parenteral thiamine had been given and after this therapy the child recovered from the encephalopathy. The authors emphasize the importance of the recognition of this neurological disorder occurring rarely in childhood: it can be cured with parenteral thiamine. Without thiamine treatment this condition is lethal.

[Septo-optic dysplasia (de Morsier syndrome)]. / Septo-opticus dysplasia (de Morsier syndroma).

Authors report a rare central nervous system malformation on giving account of three of their cases. The possibility of septo-optic dysplasia should be raised in children with unilateral or bilateral hypoplasia of the optic nerve. The use of neuroimaging technics is necessary for establishing the diagnosis. Knowing the disease is important because of the hypopituitarism which can accompany it, and which can necessitate an early hormone replacement therapy.

[Low dose ACTH therapy in West syndrome]. / Alacsony dózisú ACTH terápia West-syndromában.

Ten patients with infantile spasms were treated with low dose ACTH therapy during the last five years. The etiology, EEG, the clinical features and the efficacy of the treatment were found to be similar to the data published in the literature. The early diagnosis, etiological classification and the appropriate therapy of the disease were important to obtain a better outcome. The low dose (20-40 UE) ACTH therapy proved to be effective.

[Brainstem acoustic evoked potential (BEAP] in children with posterior fossa tumors]. / Agytörzsi acusticus kiváltott potenciál (BAEP) vizsgálatok értéke gyermekkori hátsó scala tumorokban.

Brainstem acoustic evoked potentials (BAEPs) were recorded in 16 children with posterior fossa tumours. The results were compared with the clinical course, CT scan findings and the postmortem pathological findings. Eight children had midline medulloblastoma, four children had lateral astrocytoma (two of them cerebellar, one of them pontocerebellar, and one of them craniospinal) and four children had brainstem glioma. Different BAEP pattern could be detected according to the tumour's location and histological nature: 1. In midline medulloblastoma: bilateral, symmetrical, or slightly asymmetrical I-V. IPL prolongation was the common abnormality. Beside that, some of the patients showed III-V., or I-III. IPL prolongation, or V. depression. 2. In lateral astrocytoma: asymmetrical BAEP abnormalities were seen: unilateral V. depression, and/or I-V. IPL prolongation. 3. In brainstem glioma: severely distorted waveform could be observed, with depression and gradual disappearance of components following the wave III. Based on these results BAEP measurement seems to be useful in the differential diagnosis of posterior fossa tumours of childhood, and it can be necessary even beside the CT scan. It can be useful in the early diagnosis, because the BAEP positivity can precede the CT scan positivity, in such a case repeated CT scan required. Finally BAEP measurement proved to be effective in the follow-up of posterior fossa tumours: it can document the tumour's chemotherapeutic regression, or the progression. It is a simple, non-invasive, and cheap method.

[Adrenoleukodystrophy]. / Adrenoleukodystrophia.

7-year-old boy with adrenoleukodystrophy is presented with the typical clinical picture, biochemical findings and review of the literature. The obligate carrier status of the mother and the asymptomatic adrenoleukodystrophy of the 5-year-old brother are biochemically proved. Therapeutic regime of Lorenzo's oil has been introduced to the young brother, and the question of bone marrow transplantation is discussed.

[Late onset type I tyrosinemia]. / Késöi kezdetü I. típusú tyrosinaemia.

The authors present a case of tyrosinemia type 1, 3 years old girl at the time of diagnosis. The presenting symptoms were 3 times colic, obstipation, acute encephalopathy, hypertension, hyponatremia, according to the porphyric crisis. Her kidney function tests gave normal results during illness, only once an increased calcium turnover was observed. She has no singe of rachitis. Cirrhosis of the liver was proved by biopsy because of progressively rising gammaGT and alfa-fetoprotein levels. A new ensime-blocker (NTBC) treatment was started in an international collaboration. The authors compare the history of this case to that of others published in the literature. They summarize the pathomechanism of the disease.

[Non-ketotic hyperglycinemia]. / Non-ketoticus hyperglycinaemia.

Three children with non-ketotic hyperglycinaemia (NKH) is reported. Two patients had typical neonatal form of NKH, one patients had atypical form of NKH. The clinical symptoms laboratory findings and therapeutical approach are discussed. One of the patients with typical neonatal form of NKH is died, neuropatological examination revealed corpus callosal agenesis and diffuse hypomyelinisation. The two children treated with N-methyl-D-aspartate-antagonist drugs reached a significantly better clinical condition. The authors reviewed the data of the literature, especially focused on the therapeutical possibilities.

[Neurologic tests in children having recovered from leukemia]. / Idegrendszeri vizsgálatok gyógyult leukaemiás gyermekekben.

56 long-term survivors of childhood ALL have been investigated with CT and neuro-psychological methods. At the CT examination we found that 45.4% of the cured patients had alterations. Short-term memory, attention, visual-motor coordination and IQ were found to be slightly impaired in this group. Nevertheless they didn't influence the social integration and educational achievement of long-term survivors of ALL.

Dancing eyes syndrome--brainstem acoustic evoked potential approach.

Three patients with dancing eyes syndrome of childhood are reported focussing on brainstem acoustic evoked potentials (BAEPs) recorded at different phases of the disease. In the first child in the acute phase BAEPs revealed pontine disturbance, which was less severe in a following milder attack. In the second child slight BAEP abnormalities were shown in the period of remission. In the case of the third child minimal pontine abnormalities were registered by BAEPs. These electrophysiological findings, in accordance with the clinical features, suggest tegmento-pontine or pontocerebellar localisation of pathology in the dancing eyes syndrome.