Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors present the case of a male infant affected with short limbed dwarfism already detected in utero by ultrasound. In addition, facial dysmorphism, bilateral hypoplasia and dysplasia of the kidneys with altered renal function, hypotonia and non-evolutive developmental delay are noted. Endocrine tests show a severe and isolated growth hormone deficiency. Metabolic investigations are negative, including peroxisomal functions. Prometaphase chromosomes are normal. Bone x-rays reveal generalized osteoporosis with absence of post-natal osseous maturation and the presence of wormian bones. Major pituitary hypoplasia is demonstrated by nuclear magnetic resonance. The present observation is compared to the case reported by Stratton & Parker (Am. J. Med. Genet., 1989, 32, 169-173). Available data do not allow either to affirm or to exclude the identity of the syndromes presented by these 2 isolated cases.
J Genet Hum 1989 Dec
PMID:[Nanism with short limbs, dysmorphism, renal dysplasia, growth hormone deficiency with pituitary hypoplasia and psychomotor delay: a new syndrome?]. 263 13

(1) The influence of capsaicin-sensitive afferent neurones on the regulation of blood pressure by reflex noradrenergic responses and by activation of the renin-angiotensin system was investigated in the rat anaesthetized with pentobarbital. (2) Lowering the pressure in the carotid sinus through unilateral carotid occlusion caused a reflex rise in mean systemic blood pressure which was less marked in capsaicin-pretreated rats than in controls, although an equal drop in mean pressure in the carotid sinus region was observed in both groups. Occlusion of the second carotid artery caused an additional increase in mean systemic blood pressure which was identical in the two groups. (3) Pharmacological blockade of the renin-angiotensin-system with captopril induced a more pronounced hypotonia in capsaicin-pretreated than in control rats. Yet, this difference was based on the impaired noradrenergic counterregulation in capsaicin-pretreated rats, because both groups showed identical responses to captopril following guanethidine-induced adrenergic blockade. (4) Plasma renin activity was increased by a factor of 2 following guanethidine treatment of awake animals. It reached levels 5-7 times higher than those observed in awake animals during pentobarbital anaesthesia. This anaesthesia-induced increase in plasma renin activity was not altered by guanethidine pretreatment. There was no difference in plasma renin activity between controls and capsaicin-pretreated rats under all the conditions tested. (5) These results show that the immediate reflex adjustment of blood pressure is impaired in the capsaicin-pretreated rat, possibly because of an impairment of sensors for low perfusion pressure in the carotid sinus. On the other hand, the renin-angiotension-system remains unimpaired after neonatal capsaicin-pretreatment.
Naunyn Schmiedebergs Arch Pharmacol 1989 Dec
PMID:Influence of capsaicin-induced denervation on neurogenic and humoral control of arterial pressure. 269 55

From June. 1987 to Dec. 1988, data was collected from 12 cases with Congenital Brain Anomalies. The cases involved 7 girls and 5 boys with ages ranging from 2 days to 15 years old. Abnormalities diagnosed were Cavum-septi pellucidi; Cavum vergae; Cystic dilated cavum; Cavum veli interpositi; Lissencephaly with dysgenesis of the corpus callosum; Dysgenesis of the corpus callosum associated the midline dorsal cyst; Holoprosencephaly, alobar type; Schizencephaly associated with Hydranencephaly; Encephaloclastic porencephaly; Severe hydrocephalus; Variant type of Dandy-Walker cyst with dysgenesis of the corpus callosum; Arnold-Chiari malformation. The patients were initially seen OPD primarily for seizures and other complaints such as nystagmus with visual impairment, hypotonia, facial anomalies, Yolk-sac tumor, prematurity, dyspnea and hydrocephalus. Among these, Holoprosencephaly was easiest to diagnose because it was combined with facial anomalies. However the others required evaluation by CT. CT offers very efficient diagnostic modality which is better than a Cranial Echo. It is also safer than the invasive angiography and not as expensive as MRI.
 ...
PMID:[Congenital anomalies of the brain in computed tomography]. 276 27

Mevalonate kinase deficiency has been documented in an 8-year-old child who presented with cerebellar ataxia, hypotonia and mevalonic aciduria. The activity of mevalonate kinase in extracts of cultured skin fibroblasts derived from the patient was approximately 2% of the mean value for controls. Family studies were carried out on the mother, the father and a sister, all of whom were clinically well. Mevalonate kinase activity in extracts of cultured skin fibroblasts and transformed lymphoblasts derived from the parents of the patient were 43%-52% of the mean control values. These data are consistent with an autosomal recessive mode of inheritance for mevalonate kinase deficiency.
Eur J Pediatr 1988 Dec
PMID:Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria. 285 Sep 14

A new patient with Leigh's syndrome (subacute necrotizing encephalomyelopathy due to pyruvate dehydrogenase complex deficiency) is presented. A Turkish boy of consanguinously married healthy parents developed progressive muscle weakness since infancy. At the age of 3 years he was unable to sit, stand or walk. Clinical examination showed general muscle weakness, hypotonia, muscle hypotrophy, bilateral ptosis, partial bilateral external ophthalmoplegia, nystagmus, intention tremor and hypoactive tendon reflexes. The EEG showed diffuse slowing, the cerebral CT scan disclosed mild hydrocephalus e vacuo. Motor nerve conduction velocity was slightly decreased, the EMG revealed signs of neuropathy. In the biopsied muscle only a mild hypotrophy of type 2 fibres was found, no abnormal mitochondria could be detected. The sural nerve was slightly abnormal: loss of large myelinated axons, loss of unmyelinated nerves. CSF protein was elevated to 80 mg/dl, protein electrophoresis revealed the pattern of markedly impaired blood-CSF barrier. Serum lactate and pyruvate were permanently elevated. In the urine the excretion of alanine was raised. The clinical state deteriorated during intercurrent infections; somnolence, vomiting and Cheyne-Stoke's respiration occurred. At the age of 3 1/2 years the child died of pneumonia. In the liver tissue a decreased activity of the pyruvate dehydrogenase complex was found. Neuropathological examination of the brain demonstrated wide-spread changes of Leigh's spongiform encephalopathy. Several enzyme deficiencies have hitherto been associated with Leigh's syndrome: This patients confirms earlier findings that a subgroup of Leigh's syndrome is caused by pyruvate dehydrogenase complex deficiency.
Monatsschr Kinderheilkd 1987 Dec
PMID:[Leigh's subacute necrotizing encephalomyelopathy due to decreased activity of the pyruvate dehydrogenase complex]. 312 26

To address the role of high-energy phosphorus compounds in the hypotonia of vitamin D-dependent rickets, nuclear magnetic resonance spectra were obtained sequentially from resting gastrocnemius muscle of a 10-month-old infant with rachitic hypotonia during supplementation with vitamin D, calcium, and phosphorus. During the initial weeks of treatment, the hypotonia resolved before evidence of epiphyseal mineralization. Over the early treatment period, the muscle phosphocreatine/beta-adenosine triphosphate [PCr/beta-ATP] ratio increased from 2.7-2.8 [wk 1-2] to 3.9-4.5 [wk 7-9]. The PCr/beta-ATP ratio for 6-month-old normal infant gastrocnemius and adult forearm were 4.0 and 5.7, respectively. Muscle strength appeared to recover concomitantly with an increase in retained muscle phosphorus and high-energy phosphate compounds, and with relative increase in the muscle phosphocreatine to ATP ratio. The synchrony of clinical recovery may relate to the recovery kinetics of these metabolic changes.
Pediatr Res 1988 Dec
PMID:Hypotonia of rickets: a sequential study by P-31 magnetic resonance spectroscopy. 320 28

Performing early vitrectomy with primary silicone oil filling in 11 severely injured eyes (large or multiple intraocular foreign bodies, double perforations, ruptures - all with vitreous hemorrhage and retinal detachment), the authors succeeded in treating the posterior segment trauma with adequate hemostasis in ten cases. During postoperative follow-up of between 12 and 39 months there were no recurrences of hemorrhage. Primary retinal reattachment was achieved in seven eyes. A traction detachment due to proliferative vitreoretinopathy developed in three eyes at a relatively late stage (6-19 months postoperatively): reoperation was successful in two cases. With regard to functional results, six eyes had a visual acuity of between 1/25 and 0.6, and in four it was in the range between perception of light projection and hand movements. There were three cases with keratopathy encouraged by aniridia or hypotonia. One eye with emulsification of the silicone oil developed a secondary glaucoma which responded to topical treatment. In three cases the silicone oil was removed without complications. In one eye there was an expulsive choroidal hemorrhage which could not be managed intraoperatively and which led to phthisis and amaurosis postoperatively.
Klin Monbl Augenheilkd 1988 Dec
PMID:[Early vitrectomy with primary silicone oil injection in very severely injured eyes]. 322 56

Two cases of spinal cord injury involving the lower cervical region are reported. In both, the delivery of a breech presentation was difficult. Severe hypotonia, areflexia and autonomic nervous system disturbances suggested a spinal cord injury. The evidence, type, and location of the cord lesion were given by nuclear magnetic resonance (NMR).
Arch Fr Pediatr 1988 Dec
PMID:[Neonatal spinal cord injuries and magnetic resonance imaging]. 324 45

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.
Anaesthesia 1987 Dec
PMID:Anaesthesia and septo-optic dysplasia. Implications of missed diagnosis in the peri-operative period. 343 62

Three children from two unrelated families were found to be suffering from a hitherto little-known disorder. Infantile cataract was the primary symptom at the age of 3 months, progressed quickly and necessitated surgery. At the same age, muscular hypotonia was prominent and delayed gross motor development. At preschool and school ages muscle strength and exercise tolerance were reduced, and slight muscular exercise caused marked lactic acidemia. Subsequently, hypertrophic cardiomyopathy was discovered by echocardiography, though with no signs of cardiac obstruction at that time. There were no neurological symptoms. Intellectual development was normal. The disorder is inherited as an autosomal recessive. It can be recognized from the combination of infantile cataract, muscular hypotonia, cardiomyopathy, and lactic acidosis, which, however, must be looked for carefully. Early diagnosis is mandatory for genetic counseling. The ophthalmologist holds the key to diagnosis.
Klin Monbl Augenheilkd 1986 Dec
PMID:[Infantile cataract, hypertrophic cardiomyopathy and lactic acidosis following minor muscular exertion--a little known metabolic disease]. 356 Jul 58


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