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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe a neurologically compromised infant with tetralogy of Fallot who was having multiple paroxysmal episodes of hypotonia, eye rolling, stiffening, and loss of consciousness. Simultaneous electroencephalography with video monitoring was used to determine if these episodes were a primary epileptic phenomenon or the result of hypoxic central nervous system involvement from paroxysms of hyperpnea and cyanosis. The findings would suggest that the paroxysmal episodes were not primarily epileptic. The electroencephalographic findings during the spell were similar to those found with hypoxia due to other causes. This may have physiological and therapeutic significance and be useful in following other infants with congenital heart disease who have similar episodes, especially when the infants have significant risk factors for seizures.
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PMID:EEG monitoring during paroxysmal hyperpnea of tetralogy of Fallot: an epileptic or hypoxic phenomenon? 359 45

We report on 11 cases of isochromosome 12p mosaicism (or Pallister mosaic aneuploidy syndrome) in which the isochromosome is usually absent in cultured lymphocytes but present in fibroblasts. The patients range in age from a 22-week-gestation fetus to a 45-year-old man. They have a distinct pattern of anomalies which enables one to make a diagnosis based on clinical manifestations alone. Craniofacial manifestations include "coarse" face with prominent forehead, sparsity of scalp hair, hypertelorism, epicanthal folds, flat bridge of nose, and highly arched palate. Affected newborn infants are profoundly hypotonic with sparsity of scalp hair especially bitemporally and a prominent forehead. Most have accessory nipples. Birthweight and growth parameters are usually normal; however, some newborn infants are unusually large. In infancy, the facial appearance becomes "coarse," hypotonia persists, and seizures may occur. As adults, growth may be normal, scalp hair is thicker and the mandible becomes prominent. Most have a generalized pigmentary dysplasia which may be evident with a Wood's lamp only. All cases have been sporadic and there is no consistent pattern of advanced parental age.
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PMID:Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome): report of 11 cases. 360 12

A 28-month-old male with generalized hypotonia and muscle weakness, a myopathic face, skeletal dysmorphism and delayed motor milestones from birth is reported. He gradually developed the ability of sitting and rolling over, but could not stand without support until 28 months. There was no intellectual impairment or seizures. Deep tendon reflexes were absent. The serum CK value, peripheral nerve conduction velocity and EMG were within normal limits. A muscle biopsy specimen showed mild variation in fiber size, and an increased number of type 2C fibers on histochemical examination, but no apparent abnormalities on electron microscopy. The baby was tentatively diagnosed as having minimal change myopathy or nonspecific congenital myopathy which is thought to be one of the congenital nonprogressive myopathies.
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PMID:Nonspecific congenital myopathy (minimal change myopathy): a case report. 360 41

Non-ketotic hyperglycinemia is one of inborn metabolic errors that manifest by epileptic seizures of difficult control from the first days of life in hypotonic newborn children. The lack of enzyme that catalyzes the conversion of glycine to hydroxymethyltetrahydrofolic acid, carbon dioxide and ammonia, in liver and brain, results in increased concentration of glycine in blood. It is reported in this study a case of non-ketotic hyperglycinemia diagnosed in neonatal period and characterized by hypotonia and non-controlled multiple seizures. The clinical and electroencephalographic findings, treatment as well as anatomopathologic study are discussed.
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PMID:[Non-ketotic hyperglycinemia. Study of a case]. 360 38

Cephalic neural crest cells contribute to the formation of the external and middle ears, the supporting cells of the statoacoustic ganglion, other cranial nerve components, and the face. The anlage of otic sensory structures receive inductive stimuli from adjacent rhombencephalic tissue. The complex series of interactions that guide organogenesis of the outer, middle, and inner ear structures may explain why neurologic dysfunction is likely to be associated with malformations of the ear. We reviewed the records of 100 patients with complex ear anomalies with or without hearing loss. Mean age was 4.2 years (range 1 day-27 years). Malformations, either bilateral (70) or unilateral (30), involved the external ear (94), middle ear (16), and/or inner ear (12). Eighty-five patients had neurologic dysfunction. Cranial nerve dysfunction was found in 56 patients and involved nerves VIII (39 auditory and/or vestibular), VII (22), II (11), VI (8), V (4), III (3), X (3), XII (1), and IX (1). Sixty-four patients had evidence of central nervous system dysfunction such as mental deficiency/developmental delay (44), non-paretic gait disorders (17), hypotonia (16), microcephaly (13), seizures (8), motor deficits (8), autistic features (7), and radiographically confirmed intracranial abnormalities (5). Eleven of 19 children with hypoactive vestibules had delayed motor development or poor balance. Seventy-four patients had anomalies in other organ systems: 56 craniofacial, 28 osseous, 19 cardiac, 16 genito-urinary, 14 ocular, 11 gastrointestinal, and 7 cutaneous. Sixty-one patients had syndromic conditions, 32 of them branchial arch syndromes. The level of cognitive competence was not related to severity of craniofacial, ear, or cranial nerve abnormality. Children with ear malformations deserve neurologic and pediatric evaluations in addition to an otologic work-up.
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PMID:Neurologic findings in children with ear malformations. 362 8

Two siblings with congenital granule cell hypoplasia of the cerebellum and hippocampus are reported. The patients, both male, showed severe psychomotor retardation, microcephaly, hypotonia, athetosis, and seizures; they died at the ages of 3 7/12 years and 5 10/12 years, respectively. Postmortem examinations in both cases revealed nearly complete absence of the granule cells of the cerebellum with relative preservation of the Purkinje cells. Also absent were the granule cells of the fascia dentata of the Ammon's horns of the hippocampus, without any detectable gliosis; this has not previously been reported. Twenty-three autopsy cases of granuloprival cerebellar hypoplasia are reviewed. The present cases illustrate a singularly unique disease process, comparable to the classical cerebellar hypoplasia experimentally induced by parvoviruses, and suggest a granule cell specific insult to the brain during the late second trimester.
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PMID:Congenital granuloprival hypoplasia of cerebellar and hippocampal cortex. 365 8

Fifteen patients with deletion of proximal 15q without typical Prader-Willi syndrome (PWS) have been reported previously [Schwartz et al, 1985]. We report on 2 additional patients without typical PWS found to have deletions of 15q11-13 on chromosome analysis done for evaluation of developmental delay. Their manifestations include broad nasal bridge with telecanthus, full nasal tip with flare of nasal alae, long upper lip, posteriorly angulated ears, highly arched palate, hypotonia, seizures and marked developmental delay. It was suggested that there may be a specific phenotype associated with this deletion which differs from PWS. Whether this deletion differs from the deletion associated with PWS awaits delineation on a molecular level.
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PMID:Deletions of proximal 15q without Prader-Willi syndrome. 368 19

Two unrelated females, age 15 and 5 years respectively, were studied cytogenetically because of severe mental retardation, seizures and ataxia-like incoordination. A similar deletion of the proximal long arm of chromosome 15 was found in both patients. Re-evaluation showed no voracious appetite or obesity; normal size of hands and feet, minimal to no hypotonia by history or examination and facial features not typical of the Prader-Willi syndrome. However, the facial appearance of the girls was similar to each other with mild hypertelorism. The similarity of these girls and dissimilarity to Prader-Willi syndrome suggest a different syndrome, perhaps the result of deletion of a different segment of 15q. The findings of ataxic-like movements, frequent, unprovoked and prolonged bouts of laughter and facial appearance are more compatible with the diagnosis of Angelman syndrome.
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PMID:Is Angelman syndrome an alternate result of del(15)(q11q13)? 368 21

Organic acidurias are congenital errors of the intermediate metabolism caused by a specific metabolic defect which gives rise to an anomalous excretion of carboxilic acids. The majority of these disease appear in the first weeks of life with few specific symptoms as hypotonia, lethargy, coma, seizures, vomits and dehydration. From biochemical point of view the findings of metabolic acidosis, ketosis, and hyperamoniemia are common. Frequently clinical symptoms are precipitated by infectious disease, traumatism or stress situations. The treatment applied in the initial phases may be efficient; for this reason diagnostic and early treatment are necessary for avoid irreversible sequelae. The diagnosis is also important for posterior genetic counseling. Organic acidurias are an interesting field of work for the pediatrician, neuropediatrician, biochemist and dietician to offer new perspectives in the diagnosis and treatment of many congenital errors of the metabolism.
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PMID:[Organic aciduria. Forms of presentation and treatment]. 372 91

Neonates are susceptible to infection since several elements of the immune system are deficient. At present, the most common pathogens are Group B streptococci and Escherichia coli. Prolonged rupture of membranes with amnionitis is a high-risk setting. Clinical signs suggesting neonatal sepsis include respiratory distress, poor feeding, hypothermia, seizures and hypotonia. After the sepsis work-up is completed, the initial choice of antibiotics is based on the prevailing organisms and antibiotic sensitivities within the community.
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PMID:Neonatal sepsis. 389 74


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