Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018991 (hemiplegia)
 3,997 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The long term neurodevelopmental outcome was assessed in 23 survivors born with congenital diaphragmatic hernia who had been managed by an elective delay in surgical repair after a period of stabilisation. This cohort was treated in one neonatal surgical unit between 1983 and 1989 by a single team of surgeons and anaesthetists. All children underwent comprehensive neurological, developmental, and anthropometric assessment at a mean age of 56 (range 18-94) months. Two children (9%) had major disability (one with hemiplegia and one with a lower limb monoplegia) and two further children had minor disabilities (one had partial sightedness and squint, the other squint only). The mean developmental quotient (DQ) for the group was 108 (SD 10.8) and none had developmental delay (defined as DQ < 70). Infants who had spent more time in hospital, or had had a longer duration of ventilation, tended to have lower weights and lower occipitofrontal circumference centiles in later childhood. Preoperative stabilisation and delayed surgery for congenital diaphragmatic hernia is not associated with an impaired neurodevelopmental outcome.
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PMID:Delayed surgery for congenital diaphragmatic hernia: neurodevelopmental outcome in later childhood. 128 72

A 10-month-old girl with mild developmental delay became hemiplegic after seizures. Cranial CT scan and magnetic resonance imaging (MRI) revealed no lesions related to vascular diseases, but brain atrophy on the right side was remarkable. Digital subtraction angiography showed slightly decreased visualization of peripheral branches of the right medial cerebral artery. Propionic acidaemia was diagnosed on the basis of high plasma levels of propionic acid and its metabolites and the elevated urinary excretion of these acids. With therapy, the levels of these acids fell, and her left hemiplegia disappeared 3 months later.
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PMID:Acute infantile hemiplegia in a patient with propionic acidaemia. 237 22

This study reports the survival rate and short-term neurologic outcome of children who sustained cardiac arrests at Henrietta Egleston Hospital for Children, a pediatric teaching hospital. A commonly held belief in pediatric centers has been that children tolerate the insult of cardiac arrest better than adults. Cardiac arrest was defined as the need for external or internal cardiac compressions. Critical care nurses specially trained for this project collected the arrest data and performed the serial neurological exams. Results showed that despite a low overall survival rate, neurological outcome appears to be good after the arrest even in patients who expire prior to discharge. Major neurologic deficits, such as hemiplegia and severe developmental delay, do not occur. Nursing implications of the study, which is in its second year, are discussed.
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PMID:Neurologic outcome following pediatric resuscitation. 295 64

43 pre-term newborns with birth weight of less than 1,500 grams who had been admitted to the Neonatal Intensive Care Unit of the Department of Pediatrics of the University Clinic, Bonn, between 1971 and 1977, were reexamined on age between 1-7 years. A severe neurological handicap (hemiplegia with mental retardation) was present in only one child. There was no child with convulsions. Signs of minor cerebral dysfunction were present in five children. Developmental retardation of mild degree was observed in eight children. 28 children were entirely normal. Our results are in accordance with the encouraging reports of other recent authors concerning the improving long-term prognosis of very-low-birth-weight pre-term infants.
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PMID:[Follow-up pre-term newborns with birth weight of less than 1500 grams now aged between 1-7 years (author's transl)]. 611 1

We describe a family in which two males and seven females have brown pigmentation of the skin. In the females, the type and distribution of the pigmentation mimicked incontinentia pigmenti; in the males, the pattern was reticulate. The histological appearance was the same in both sexes with amyloid deposits in the papillary dermis, melanin in the basal layer, and slight hyperkeratosis. The females were otherwise normal. Both males had thrived poorly as infants but had survived. One had severe gastroenteritis with blood in the stools starting at the age of three weeks followed by seizures, hemiplegia, and developmental delay; the other had recurrent pneumonia throughout life, a urethral stricture, inguinal herniae, and near-blindness from amyloid deposition in the cornea. Five other males in the family had had severe illnesses. Two died of pneumonia by three months. One died at three months from colitis. Both remaining boys had colitis as infants, failed to thrive, and developed recurrent pneumonia from which one died at three years. We think all of these relatives had the same disease carried by a single gene with pleiotropic effects. The most likely form of inheritance is X-linked.
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PMID:Familial cutaneous amyloidosis with systemic manifestations in males. 679 69

This report describes a full-term newborn with massive fetomaternal hemorrhage. Fetal movements were decreased 48 hr prior to delivery. On the day of delivery, they were absent. The nonstress test was abnormal with low biophysical profile and decreased beat-to-beat variability. The infant presented with extreme pallor, hypotonia, hepatosplenomegaly, and ascites. The initial hemoglobin was 2.2 g/dL, the Kleihauer-Betke stain was 27.6% (highest level ever reported). Right temporal and cerebellar hemorrhages were present. Sequelae include severe developmental delay and asymmetric double hemiplegia.
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PMID:Massive fetomaternal hemorrhage. 925 42

We present our analysis of 44 patients with alternating hemiplegia of childhood. The clinical course usually consisted of three phases. The first was dominated by abnormal eye movements and dystonic episodes, the second by hemiplegic spells and psychomotor regression, and the third by persistent developmental delay and fixed neurologic deficits. The age of onset was 0-54 months (mean = 7.9 +/- 13 months). The presenting signs included abnormal ocular movements in 65%, dystonia in 60%, and hemiplegia in 32%. Patients with an early onset of the disorder and an early appearance of hemiplegic spells faired the poorest developmentally. Developmental delay was present in 91%, ataxia in 68%, choreoathetosis in 50%, and seizures in 18%. Laboratory investigations suggested mitochondrial abnormalities and cerebrovascular dysfunction in several patients. Numerous therapies were largely ineffective. Flunarizine reduced the duration, severity, and frequency of the hemiplegic attacks in 78%. Patients who received flunarizine did not differ developmentally from those who did not. Our data suggest that flunarizine does not adversely affect and may favorably influence the outcome in patients with alternating hemiplegia of childhood. Additionally, the occurrence of autosomal-dominant cases of the syndrome, although rare, suggests that, in addition to mitochondrial dysfunction, genetic factors may be important.
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PMID:Alternating hemiplegia of childhood: clinical manifestations and long-term outcome. 1102 Jun 38

Alternating hemiplegia of childhood is a rare progressive disorder usually diagnosed in early childhood. It consists of repeated attacks of dystonia, hemiplegia or quadriplegia followed by fixed neurological deficits and developmental delay. A case is reported of a 33-year-old woman with alternating hemiplegia of childhood who presented at 34 weeks' gestation for urgent lower segment caesarean section due to repeated antepartum haemorrhages and following failed induction of labour.
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PMID:Caesarean section under general anaesthetic in a woman with alternating hemiplegia of childhood. 1532 38

Hemimegalencephaly (HME) is a developmental brain lesion consisting of a unilateral enlarged, dysplastic, and often highly epileptogenic cerebral hemisphere. Most patients exhibit early onset intractable seizures, status epilepticus, hemiplegia, hemianopsia, and developmental delay. Major surgical procedures are advocated for limiting the devastating consequences of epilepsy. We studied a female with HME, early onset intractable seizures and recurrent status epilepticus, in whom progressive hemiatrophy of the enlarged hemisphere and normal growth of the contralateral hemisphere, exceeding the size of the dysplastic hemisphere, was demonstrated by magnetic resonance imaging. Histopathology, following functional hemispherectomy at the age of 7 years, demonstrated severe neuronal loss with an elevated number of cells exhibiting the morphological and biochemical features of apoptosis. Eighteen months after surgery the patient was seizure-free (Engel class I) and exhibited improved motor and language skills, alertness and social behaviour. We hypothesize that nearly continuous seizure activity might sustain seizure-induced brain injury in the dysplastic hemisphere but causal heterogeneity and associated anatomical factors may influence differently the individual predisposition to atrophic changes.
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PMID:Progressive hemispheric shrinking in hemimegalencephaly: a possible role for seizure-related neuronal loss. 1861 Dec 8

In two siblings we found a mitochondrial encephalomyopathy, characterized by developmental delay, hemiplegia, convulsions, asymmetrical brain atrophy, and low cytochrome c oxidase (COX) activity in skeletal muscle. The disease locus was identified on chromosome 2 by homozygosity mapping; candidate genes were prioritized for their known or predicted mitochondrial localization and then sequenced in probands and controls. A homozygous nonsense mutation in the KIAA0971 gene segregated with the disease in the proband family. The corresponding protein is known as fas activated serine-threonine kinase domain 2, FASTKD2. Confocal immunofluorescence colocalized a tagged recombinant FASTKD2 protein with mitochondrial markers, and membrane-potential-dependent in vitro mitochondrial import was demonstrated in isolated mitochondria. In staurosporine-induced-apoptosis experiments, decreased nuclear fragmentation was detected in treated mutant versus control fibroblasts. In conclusion, we found a loss-of-function mutation in a gene segregating with a peculiar mitochondrial encephalomyopathy associated with COX deficiency in skeletal muscle. The corresponding protein is localized in the mitochondrial inner compartment. Preliminary data indicate that FASTKD2 plays a role in mitochondrial apoptosis.
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PMID:FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency. 1877 61


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