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Query: UMLS:C0026838 (spasticity)
 6,471 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe a syndrome of microcephaly, with extreme failure to thrive, (severe spasticity), kyphoscollosis, cataracts, and hip dysplasia in four siblings. The syndrome could be a new one, although it has several features resembling those described by Lowry et al. It is suggested that this syndrome is inherited as an autosomal-recessive condition.
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PMID:A syndrome of microcephaly and cataracts in four siblings. A new genetic syndrome? 83 33

Hip dislocation in children with cerebral palsy is caused by a combination of factors, including spastic muscle imbalance, persistent fetal femoral geometry, acetabular dysplasia, and flexion-adduction contracture. The incidence of dislocation correlates with the severity of the spasticity, and the prevalence is close to 50% in neurologically immature, spastic quadriplegic children. Successful hip reductions improve muscular balance, provide satisfactory reduction of the femoral head, and establish good pelvic coverage. In 31 occurrences of established hip dislocation in 24 patients, the most successful operations used a combined procedure consisting of soft-tissue release, open reduction, femoral varus derotation and shortening osteotomy, and pelvic osteotomy.
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PMID:Established hip dislocations in children with cerebral palsy. 218 Jun 6

Septo-optic dysplasia (De Morsier's syndrome) is a common cause of congenital optic nerve hypoplasia. Associated abnormalities such as hypothalamic/pituitary dysfunction, hypotonia or spasticity, may result in affected children presenting for surgical procedures under general anaesthesia. A 3.5-year-old boy with the undiagnosed condition had his Achilles tendons elongated under an uncomplicated general anaesthetic. The postoperative period was complicated by coma and a major convulsive seizure which responded to glucose and steroids. The importance of awareness of this condition in short children with poor visual acuity who require general anaesthesia is stressed, and the presenting features of seven other cases are demonstrated.
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PMID:Anaesthesia and septo-optic dysplasia. Implications of missed diagnosis in the peri-operative period. 343 62

The results of 36 Chiari medial displacement osteotomies of the pelvis were studied to determine the efficacy of the operation in the treatment of subluxated and/or painful dysplastic hips. Fifteen of 16 osteotomies performed for congenital hip dysplasia provided satisfactory coverage, pain relief, and increased function. The results were less consistent in patients with myelodysplasia, spasticity, and Perthes disease. The Chiari osteotomy is a technically exacting procedure capable of providing adequate femoral head coverage. This coverage facilitates pain relief and increased function. This procedure is most suited for those individuals with a painful hip subluxation in whom a concentric reduction is not possible.
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PMID:Chiari medial displacement osteotomy. 406 33

Oculodento-osseous dysplasia (ODOD) is a rare genetic disorder characterized by microphthalmia, hypoplasia of the dental enamel, dysplastic and sclerotic changes in the skeleton and various digital malformations. The occurrence of basal ganglion calcification in this condition is of considerable interest, particularly as it has some biochemical features in common with hypoparathyroidism and pseudohypoparathyroidism. The 2 patients presented in this article did not show any features of an extrapyramidal disorder, but both experienced progressive spasticity in the limbs. The neurological disturbance was not due to compression of the neuraxis by bony overgrowth, but to an associated neurological lesion of undetermined nature. The biochemical abnormalities are discussed but as yet no explanation for the association between intracranial calcification and ODOD can be offered.
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PMID:Intracranial calcification in oculodento-osseous dysplasia. 626 36

61 cases of neuronal intestinal dysplasia are compared in a follow-up study. Two clinically and bioptically different types of intestinal dysplasia can be distinguished. One type with involvement of the sympathetic nerves and the clinical signs of intestinal spasticity, ulcerative colitis with haemorrhagic stools. Histotopochemically, this disease pattern shows aplasia or hypoplasia of the sympathetic nerves with enhanced parasympathetic activity (elevated acetylcholinesterase activity in the lamina propria mucosae and orbicular musculature). One type with involvement of the plexus submucosus clinically accompanied by adynamia of the colon with megacolon formation. This type becomes manifest usually around the 6th month of life. Bioptically there are large groups of ganglion cells and Schwann's cells, but there is also acetylcholinesterase activity as in the other type. This 2nd form is seen more frequently. A third form is a combination of both diseases. The incidence rate of neuronal intestinal dysplasia is equal to that of Hirschsprung's disease.
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PMID:[Neuronal intestinal dysplasia. Critical 10-years' analysis of clinical and biopsy diagnosis]. 664 3

Stenosis of the aqueduct of Sylvius accounts for about one third of cases of congenital hydrocephalus. At least 32 families have been reported in which the aqueduct stenosis is inherited in an X linked fashion. In half of these families, flexed adducted thumbs were noted in some affected family members. Occasionally other male members were mentally retarded, suggesting limited expression of the gene. The problem of giving genetic advice to an isolated, clinically unremarkable, case of aqueduct stenosis remains, so a family study was undertaken based on 24 such cases seen at The Hospital for Sick Children over a 19-year period. There were 15 male and nine female index patients. The diagnosis was confirmed in all cases by air encephalogram. One boy had a radial club hand and another developed clasped thumbs secondary to spasticity. No cases had hyaloidoretinal dysplasia. The 15 boys had 18 brothers and 19 sisters, of whom one sister was similarly affected. The nine girls had 12 sibs, none of whom was affected. This study, combined with a similar study in the USA, suggests that the empirical risk of recurrence of a sporadic case of aqueduct stenosis is about 4.5%.
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PMID:A family study of hydrocephalus resulting from aqueduct stenosis. 727 16

Forty-one hips in 24 patients with neuromuscular disease (NMD) were studied using three-dimensional computed tomography (3DCT). The location of the acetabular deficiency was posterior (37%), anterior (29%), midsuperior (15%), and mixed (19%) (anterosuperior, posterosuperior, and global). Although subtle morphologic changes occurred in the entire acetabulum, the major acetabular deficiency coincided with the direction of the subluxation or dislocation. The location of the acetabular deficiency that develops in cerebral palsy is not always posterosuperior, as suggested by other authors. The pattern of spasticity that results in muscle imbalance around the hip joint and changes in proximal femur architecture causes hip subluxation or dislocation, which may be either, posterior, anterior, or midsuperior. 3DCT studies are required to analyze accurately and understand acetabular deficiency in childhood NMD. These image data also allow more accurate planning for surgery in neuromuscular hip dysplasia.
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PMID:Location of acetabular deficiency and associated hip dislocation in neuromuscular hip dysplasia: three-dimensional computed tomographic analysis. 907 86

Among the variable manifesting conditions of neuronal migration disorders, mental retardation, motor disturbance and epilepsy are the main features of developmental disabilities. We analyzed the relationship between clinical symptoms and magnetic resonance (MR) images, including surface anatomy scan (SAS). Thirty nine patients (23 males, 16 females; mean age 6.1 years) with neuronal migration disorders were studied. The diagnoses were cerebral palsy in 23 cases, mental retardation in 4. West syndrome in 4, Fukuyama type congenital muscular dystrophy (FCMD) in 6. Walker-Warburg syndrome in 1 and Dubowitz syndrome in 1. Cortical dysplasias were classified into the following 7 groups, mainly based on the SAS findings: complete agyria (AG 1), mixture of agyria and pachygyria (AG 2), bilateral complete pachygyria (BP 1), diffuse pachygyria with marked widening of the bilateral superior frontal gyrus (BP 2), unilateral pachygyria with hemispheric atrophy or hemimegalencephaly UP), focal cortical dysplasia (FP) and other findings such as solitary schizencephaly (Others). Most cases of AG 1 and AG 2 showed spastic quadriplegia (6/7) and symptomatic generalized epilepsy (5/7), whereas cases of BP1 showed spasticity only in 1/8 and epilepsy in 7/8. Hemiplegia was observed in 6/7 of UP, 2/8 of FP and 2/4 of Others. Partial epilepsy was observed in 2/7 of UP and 1/8 of FP. Intellectual level was variable in BP 1, UP, FP and Others, but all cases showed severe mental retardation in AG 1, AG 2 and BP 2. BP 2 was observed in all cases of typical FCMD (5/5). The birth weight was less than 2,500 g in 6/7 of UP. The structural findings well correlated with clinical symptoms and epileptic seizure types. The surface anatomy scan was a very useful technique for detecting cortical dysplasias.
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PMID:[The relationship between MR images and clinical findings in neuronal migration disorders]. 924 87

Pelizaeus-Merzbacher disease (PMD) is a hereditary disorder with myelin dysplasia in the central nervous system. The connatal type is a more severe form compared to the classical type and shows developmental arrest or deterioration, nystagmus, spasticity, and/or convulsions in the neonatal period. A 1 1/4-year-old Japanese boy diagnosed as connatal type PMD is reported here. Soon after his birth, he demonstrated horizontal and rotatory nystagmus and opisthotonic posture. At the age of 10 months, he had difficulty in feeding. At the age of 1 year, he presented more severe opisthotonic posture and frequent vomiting. He showed deterioration in gross motor development. His chromosome analysis showed a normal male karyotype. Electroencephalogram did not show a sleep spindle. Auditory evoked brainstem responses (ABR) showed only wave I on both sides. Visual evoked potentials (VEP) showed prolongation of latencies. These results were compatible with PMD. Nuclear magnetic resonance imaging (MRI) demonstrated in the white matter of cerebrum and brainstem no high intensities on T1-weighted images and diffuse high intensities on T2-weighted images. Such absence of myelination including the brainstem was characteristic to the connatal type PMD. The diffuse disturbance of myelination appeared to correlate with the severity of clinical symptoms.
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PMID:[Connatal type of Pelizaeus-Merzbacher disease: a case report]. 1019 41


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