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 report 7 cases of infants presenting with an apparent life-threatening event associated with acute pericerebral haemorrhage (subarachnoid haemorrhage and/or subdural hematoma) without evidence of traumatism, abuse, or shaking. Clinical characteristics were the same in all cases, including limpness, severe dysautonomic disorders, and pallor; all infants had retinal and pre-retinal haemorrhages. Two infants died; the five survivors have severe neurologic sequelae. The symptoms revealing an infant's pericerebral haemorrhage are usually axial hypotonia and pallor. Traumatism remains the most common aetiology and must be searched for. Non-traumatic aetiologies are unusual and were excluded in these reported cases. The 'shaken baby' syndrome is not the sole aetiology of an apparent spontaneous pericerebral haemorrhage: a slight bump associated with predisposing vascular factors particular to infancy could be involved. When confronted with an apparent life-threatening event associating limpness and pallor, one must consider the diagnosis of pericerebral haemorrhage.
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PMID:[Is pericerebral hemorrhage a cause of severe malaise in infants?]. 133 65

From January 1984 through August 1986, 130 infants were referred to our department with a history of apnea, hypotonia, and cyanosis or pallor, suggesting near-miss sudden infant death syndrome. Protocol consisted of medical history, clinical examination, overnight polygraphic recording, and cardiologic, gastrointestinal, metabolic, neurologic, and toxicologic workups. In 49 of these infants who needed vigorous stimulation or mouth to mouth resuscitation, the event occurred shortly after feeding. Combined, continuous esophageal pH monitoring and polygraphic recording in these 49 infants showed pathologic gastroesophageal reflux (GER) in 34 patients. An abnormal overnight polygraphic recording was observed in 8 of 34 infants with pathologic GER. Other investigations led to etiologic diagnoses in 42 of the remaining infants. Severe GER was frequently found in children with apnea after feeding but clearly is not the only mechanism involved. Infants with a history of apnea after a feeding should be investigated for GER and appropriately treated.
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PMID:Gastroesophageal reflux in infants with a history of near-miss sudden infant death. 207 21

Post-vaccination symptoms in 6,004 infants given adsorbed Diphtheria Tetanus and Pertussis (DTP) vaccine and 4,024 infants given adsorbed Diphtheria and Tetanus (DT) vaccine have been compared. Although crying, screaming and fever were slightly more frequent after adsorbed DTP than adsorbed DT, attacks of high-pitched screaming, episodes of pallor and hypotonia, convulsions, other neurological disorders and sudden infant death occurred with similar frequency in the two groups. No specific neurological effect attributable to the pertussis component was found.
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PMID:Post-vaccination symptoms following DTP and DT vaccination. 387 85

Clinical, neuropathological, and biochemical studies are reported in two children with the AB-variant of GM2-gangliosidosis. One patient had become symptomatic by 1--1.5 years, initially showing cerebellar signs, and then progressive psychomotor retardation, with hypotonia, spasticity, dementia, and macular cherry red spots, until death at the age of 4.5 years. The second patient showed an earlier onset of retardation and a more rapidly progressive course. At postmortem, the brains were of normal or near normal weights and displayed grossly only mild cerebral cortical and cerebellar atrophy, and mild pallor or attenuation of the white matter. Neuronal storage was widespread throughout the CNS, and both neurons and glia contained a variety of abnormal, membranous inclusions. Visceral organs were not involved. Ganglioside sialic acid was increased several fold in gray matter, with GM2 the predominant ganglioside species. N-acetyl-beta-glucosaminidase activities in serum, leukocytes, fibroblasts, and postmortem gray matter, assayed with an artificial, fluorogenic substrate, were normal, as were activities of other lysosomal hydrolases.
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PMID:The AB-variant of GM2-gangliosidosis. Clinical, biochemical, and pathological studies of two patients. 625 24

Ocular manifestations in two cases of congenital muscular dystrophy of Fukuyama type were reported. This disease is characterized by early onset of hypotonia, generalized muscle weakness and atrophy, mental retardation, and elevated serum creatine-phosphokinase activity. The symptoms include entropion of lower lids, pathological myopia with astigmatism, optic nerve pallor, and irregular grayish subretinal mottling. Case 1 showed additional features of posterior staphyloma, dragged papillomacular vessels, peripheral grayish-white discoloration of the retina, and rete mirabile as well as abnormal vascular anastomosis.
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PMID:Ocular manifestations of congenital muscular dystrophy (Fukuyama type). 665 Nov 32

The long term development of periodic syndromes among children is little known. Our research has revealed that about one third of periodic headaches, two thirds of cyclic vomiting and half the cases of recurring abdominal pain disappear either before puberty or during adolescence. Other Authors have shown that this also happens in most cases of early-onset vertigo. The remaining headache cases develop into migraines in adults. When there is persistent cyclic vomiting, the collateral neurologic phenomena (headaches, vertigo, pallor, hypotonia, drowsiness) become more intense. This also happens in some cases of abdominal pain and paroxysmal vertigo which start in late childhood. Other sufferers from acute abdominal pain develop ulcers, gastroduodenitis and colitis as adults. Altogether, some infantile periodic syndromes (in particular the multi-symptomatic ones) have a common outcome, i.e. develop into more or less typical migraine syndromes. In these cases one can presume a common pathogenetic mechanism. In those cases where the outcome is favorable the pathogenesis may be different. These cases may often be spotted in early childhood on account of the monosymptomatic nature of the complaint or the absence of collateral neurologic symptoms as well as of the infrequency of critical episodes.
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PMID:[Childhood periodic syndromes and their long-term development]. 692 13

From 1977 to 1981, 500 infants had been referred to evaluate their risk for the sudden infant death syndrome (SIDS). These included 186 infants who had presented an event (prolonged apnea, hypotonia, pallor or cyanosis) initiated while asleep, 133 siblings and 181 "controls". All-night polygraphic recordings were performed in all infants, and if indicated by the history of the infants, complementary clinical investigations were done. These procedures led to the identification of 50 infants considered at risk for SIDS (10% of all referrals): 30 near-misses for SIDS, 10 siblings and 10 infants with a minor incident during sleep but with abnormal polygraphic recordings. These 50 infants (group I) were monitored at home during sleep with the help of a cardiac and respiratory monitor. Eight infants not considered at risk were monitored similarly at the request of their parents (group II). Forty of the 50 infants in group I presented with repetitive sleep apneas and bradycardias, and required stimulation by their parents to regain normal cardiorespiratory rhythm. Twelve had to be resuscitated at least once for a life-threatening event. None of the infants in group II showed alarms during sleep. Monitoring could be discontinued after a mean length of 7.2 months for the infants in group I, 4.1 months in group II. It is concluded that if identified in time through adequate investigations, some infants may be protected against SIDS through home monitoring. This approach requires expensive and well trained teams, ready, at any time, to cope with the problems that may arise in the homes of the monitored infants.
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PMID:Home monitoring of infants considered at risk for the sudden infant death syndrome. Four years' experience (1977-1981). 715 39

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

Hypotonic-hyporesponsive episode (HHE) is a term used to describe a somewhat heterogenous group of clinical disorders that have been reported primarily in association with whole-cell pertussis vaccination. A 1991 review by the Institute of Medicine determined that the evidence available was indeed consistent with a causal relation between whole-cell pertussis-diphtheria-tetanus immunization and HHE, but that the evidence was insufficient to indicate a causal relationship between HHE and the subsequent development of permanent neurologic damage. More recent data from clinical trials conducted in Europe suggest that HHE also occurs after vaccination with acellular pertussis vaccines. The US Food and Drug Administration, in collaboration with the US Public Health Service, sponsored a workshop on HHE in Rockville, Maryland, on June 19, 1997. The primary goals of the workshop were to develop a case definition of HHE and to evaluate the general design and feasibility of possible studies of HHE using the federal Vaccine Adverse Event Reporting System (VAERS), a national passive surveillance system. The goals of such studies would be to understand better the acute HHE event and to evaluate the possibility of long-term sequelae. Case Definition. There has been no generally accepted definition of HHE, and a standard definition would be useful for vaccine safety work and would potentially facilitate interstudy comparisons of the growing number of licensed vaccines containing acellular pertussis components. The workshop defined HHE as an event of sudden onset occurring within 48 hours of immunization, with duration of the episode ranging from 1 minute to 48 hours, in children younger than 10 years of age. All of the following must be present: 1) limpness or hypotonia, 2) reduced responsiveness or hyporesponsiveness, and 3) pallor or cyanosis or failure to observe or to recall skin coloration. HHE is not considered to have occurred if there is a known cause for these signs (eg, postictal), if urticaria is present during the event, if normal skin coloration is observed throughout the episode, or if the child is simply sleeping. This inclusive (sensitive) case definition will allow investigators, through the technique of stratification according to certain characteristics (eg, time from vaccination to onset of HHE), to attempt to hone the definition and make it more specific. Refinement of the definition of HHE has been hindered by the lack of information on its pathophysiology and by the lack of pathognomonic signs, symptoms, and diagnostic tests. Another hindrance is that by the time the child presents for medical evaluation, the signs of HHE often have normalized. Moreover, different mechanisms may be involved in different individuals whose events meet this workshop's HHE definition. Further Study of HHE. Probably the most important question about HHE is whether it has any permanent sequelae. The workshop assessed the possible contribution VAERS-based studies could make to answering this question and found substantial methodologic problems; however, ongoing studies in Sweden and The Netherlands have the potential to provide useful information on this question. The most useful contribution of VAERS data would be in a descriptive study of HHE, with a possible case-control study of factors that may affect the risk of HHE after vaccination, rather than a study of possible permanent sequelae. The workshop participants felt that a detailed descriptive study of approximately 100 HHE events reported during a 1- to 2-year period could provide a more in-depth description of HHE cases in greater numbers than has been published previously, but the study would not address the issue of long-term sequelae of HHE. Better descriptive data may lead to new hypotheses concerning risk factors, etiology, and pathophysiology of HHE that might be evaluated further by studying subsequent cases and controls from VAERS or from other sources, depending on the hypoth
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PMID:Report of a US public health service workshop on hypotonic-hyporesponsive episode (HHE) after pertussis immunization. 979 82

A 15-month-old girl with severe hemolytic anemia and progressive respiratory failure is presented. She was well until the age of six months when she developed a pulmonary infection. During the next six months, she had frequent respiratory infections and her paleness became evident. At the age of 12 months, she was observed to have easy fatigability and muscle weakness, and she received her first blood transfusion. She was referred to our hospital at the age of 15 months. The physical examination revealed a malnourished girl with hypotonia, nystagmus, generalized muscle weakness and severe breathing difficulty requiring ventilatory support The hemoglobin (Hb) was 9.7 g/dl; hematocrit (Hct) 29%, mean corpuscular volume (MCV) 101 fl and reticulocyte count 15%. Peripheral blood smear revealed macrocytosis and stomatocytosis (30% of the red cells) and polychromasia. Sweat chloride test was 90 and 94 mEq/L on two separate occasions. The serum vitamin E level was 0.26 mg/dl (N: 0.44-0.68). She was found to be heterozygous for factor V Leiden mutation. Although malnutrition, low serum vitamin E and elevated sweat chloride test were suggestive of cystic fibrosis, this diagnosis failed to account for all the findings in the patient. A search for a red cell enzyme deficiency revealed that the red cell triosephosphate isomerase (TPI) activity was low. DNA analysis showed the 315 G-C (105 Glu-Asp) TPI mutation, thus confirming the diagnosis of TPI deficiency.
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PMID:Triosephosphate isomerase deficiency with elevated sweat chloride test: report of a case. 1119 50


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