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 purpose of the study was differential diagnosis of lactic acidosis in 44 children aged from 2 weeks to 4 years. In all of them the lactate level in repeated determinations exceeded 27 mg/100 ml. From the point of view of clinical manifestations the children were divided into three groups: 26 with hepatomegaly and hypoglycaemia (I), 6 with ataxia and retardation of somatic development (II), 12 with mental retardation and muscular hypotonia (III). Together with basic biochemical studies other tests were done, if necessary, including glucose and alanine loading, lactate determination in cerebrospinal fluid, analysis of urinary organic acids by the GC-MS method, morphological examinations of muscle biopsy material, enzymatic determinations in liver biopsy material. In group I glycogenosis was suspected and its type was finally established after biochemical and enzymatic tests (types I, Ib, III, VI, VIa, XI). In one case fructose-1,6-diphosphatase deficiency was suspected. In group II the clinical manifestations resembled Leigh's syndrome. The tests demonstrated an inhibition of glucose formation from alanine, and lactate level in the cerebrospinal fluid was evidently raised above that in the serum. Gasometric index showed the presence of respiratory alkalosis with metabolic compensation rather than primary lactate acidosis. In group III, with considerable clinical variety of signs, in only nine out of 12 children the cause of lactate acidosis could have been established (pathological changes of mitochondria in 4 cases, secondary increase of lactate without pathogenetic importance in 4, and 3-hydroxy-3-methylglutaric acidosis in 1 case. In conclusion it is thought that this combination of diagnostic methods is useful in differential diagnosis of congenital lactate acidosis in children.
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PMID:Congenital lactic acidosis in children--differential diagnosis in 44 cases. 184 18

A 3-month-old infant with congenital hypotonia suffering from an unusual form of glycogenosis is reported. The most striking neuropathologic findings were vacuolation of neuropile and glycogen accumulation, especially in the cerebral cortex and cerebellar molecular layer. Ultrastructurally, glycogen accumulation was present mainly in neurites and astrocytic processes, and mostly appeared as rosettes (alpha glycogen particles). Biochemical analysis of glycogen in various regions of the central nervous system showed an increase of up to 100-fold. The cerebral cortex, deep nuclei, and cerebellar cortex had the highest glycogen elevations, while the cerebral white matter glycogen level was normal. Among other tissues, the heart showed a several-fold increase in glycogen content. Muscle, liver, and kidney glycogen levels were not elevated. Findings in this case and in three other reported patients with cerebral glycogenosis of alpha particle type are discussed.
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PMID:Cerebral glycogenosis, alpha particle type: morphologic and biochemical observations in an infant. 259 52

Five cases of infant glycogen storage disease of the heart are reported. Their ages ranged from 2 to 7 months. They all presented with generalized hypotonia and respiratory tract infections. Four of the diagnosis were proven by skeletal muscle biopsy and enzymatic assay of alpha-1,4-glucosidase. All 5 infants had clinical signs of cardiac failure, cardiomegaly shown by chest X-ray, short PR intervals, severe left or bi-ventricular hypertrophy shown on electrocardiograms, increased thickness of the right and left ventricular walls and interventricular septum both on M-mode and two-dimensional echocardiograms and angiocardiograms. Four of them died during the follow-up period with a mean age at death of 7.5 months.
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PMID:Clinical analysis of five infants with glycogen storage disease of the heart--Pompe's disease. 345 1

Four rare forms of inherited myopathy are reviewed. Nemaline myopathy shows certain well-defined clinical characteristics and rodlike structures derived from Z-band protein accumulate within the muscle fibers. Myotubular or centronuclear myopathy presents usually with infantile hypotonia and the majority of the muscle fibers demonstrate central nuclei surrounded by perinuclear halos, developmental arrest may well be followed by perinuclear degeneration. Glycogen storage disease due to acid maltase deficienty is now recognized as an occasional cause of late-onset myopathy. An unusual case of myopathy due to lipid storage in Type I muscle fibers is described.
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PMID:Some rare congenital and metabolic myopathies. 529 16

An infant with hypotonia, gross cardiomegaly and heart failure is described. Angiocardiography revealed a hypertrophic restrictive cardiomyopathy. The diagnosis of type II glycogenosis was confirmed by the total absence of alpha-1,4-glucosidase in cultured skin fibroblasts. It is now possible to offer prenatal diagnosis by amniocentesis to women at risk of having affected children.
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PMID:Angiocardiographic and enzyme studies in a patient with type II glycogenosis (Pompe's disease). A case report. 677 81

Type IV glycogenosis or Andersen disease is characterized by a deficiency in branching enzyme. This rare disease is exceptionally seen at birth. The clinico-pathological data are then typical: severe hypotonia with hypoventilation and cellular storage, without any hepatosplenomegaly. The stored material is PAS positive, sometimes made of crystals and appeared birefringent under polarized light. Granulo-filamentous inclusions are shown by electron microscopy, essentially observed in muscle and liver without cirrhosis. Death occurs rapidly. The present case was typical. It is the eleventh reported case in the literature.
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PMID:[Congenital variant of type IV glycogenosis. Anatomoclinical report of a case]. 909 Sep 36

Three neonatal patients, one girl and two boys, presented with infantile Pompe's disease. A generalized hypotonia with decreased tendon reflexes and heart failure due to hypertrophic cardiomyopathy dominated the clinical picture in all three; these symptoms are uniformly and characteristically present. This autosomal recessive glycogen storage disease is caused by a deficiency of lysosomal alpha-glucosidase. The diagnosis, suspected on the basis of the characteristic clinical picture and the results of simple laboratory tests, is made by measurement of the enzymatic activity or DNA analysis. Most patients die in their first year of life, no treatment being available.
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PMID:[Three hypotonic neonates with hypertrophic cardiomyopathy: Pompe's disease]. 975 27

Floppiness in an infant may have a number of different etiologies from disorders of the brain to spinal cord lesions, neuropathies, neuromuscular junction disorders and myopathies. In this study we aimed to investigate the correlation of muscle ultrasonography (US) and electromyography (EMG) in the diagnosis of floppy infants. The study encompassed 41 floppy infants aged 2-24 months. The muscle US and EMG examinations were performed without awareness of the clinical diagnosis. The final diagnosis was established by molecular genetic tests or muscle/nerve biopsy. The neurogenic group consisted of 16 infants according to their US and EMG findings. Fifteen of them had spinal muscular atrophy proven by genetic analysis and one had polyneuropathy diagnosed by nerve biopsy. Six infants were in the myopathic group according to their muscle US and EMG results. All of them underwent muscle biopsy and microscopic examination revealed five congenital muscular dystrophy and one glycogen storage disease. In two infants the US and EMG data conflicted. Their biopsies were also insufficient for the diagnosis. Seventeen infants had normal US and EMG findings but pathologic cranial magnetic resonance imaging or metabolic/genetic tests. They were considered in the group of central hypotonia. Our results suggest a high concordance of US and EMG findings in the diagnostic work-up of neurogenic and myopathic disorders.
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PMID:Muscle ultrasonography and electromyography correlation for evaluation of floppy infants. 1253 29

Glycogen storage diseases are a rare group of disorders in daily pediatric practice but must be taken into account when a patient presents with poor physical growth, hepatomegaly, hypoglycemia, hypotonia and/or other metabolic disturbances. Early diagnosis allows treatment that might improve the patient's outcome to be started or, at the very least, genetic counseling to be given to the parents. We present a 10-month-old boy who presented with growth retardation, abdominal distention and hepatomegaly and who was finally diagnosed with glycogenosis type IX. Definitive diagnosis was obtained by demonstrating the enzyme defect (phosphorylase beta-kinase) in affected tissues. Enteral nutrition was started using a diurnal high-carbohydrate diet with frequent feedings and nocturnal nasogastric continuous feeding, achieving optimal growth parameters and clinical response.
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PMID:[Glycogen storage disease type IX presenting as abdominal distention, hepatomegaly and hypoglycemia during infancy]. 1553 Mar 25

Muscle phosphofructokinase deficiency is known to cause childhood-onset exercise intolerance, muscle cramps, and myoglobinuria. Rarely, phosphofructokinase deficiency manifests in infancy as congenital myopathy and arthrogryposis with fatal outcome. Here, the authors report the case of a 2-year-old boy with infantile phosphofructokinase deficiency who presented on the third day of life with intractable seizures. Two of his sisters died in infancy with hypotonia, developmental delay, and seizure disorder of unclear etiology. On follow-up, he has had hypotonia and mild developmental delay. However, he continues to gain developmental milestones, and his seizures are now well controlled on carbamazepine. This presentation suggests expanding the phenotype of muscle phosphofructokinase deficiency to include early-onset neonatal seizures. It is also unusual in the relatively milder course of the infantile form of this disorder. The authors propose that this form of glycogen storage disease be considered in the differential diagnosis of neonatal seizures and early infantile nonprogressive muscle weakness.
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PMID:Muscle phosphofructokinase deficiency with neonatal seizures and nonprogressive course. 1760 17


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