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)

A 5-year-old boy suffered from a slowly progressive non-familial neuromuscular disease, clinically marked by generalised muscle weakness, atrophy and hypotonia, a "myopathic" EMG and mildly elevated CK values. His gastrocnemius muscle showed marked myopathy, type I fibre predominance, and numerous "rimmed" vacuoles. This boy's condition is regarded as a childhood neuromuscular disease with rimmed vacuoles.
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PMID:Childhood neuromuscular disease with rimmed vacuoles. 370 66

The authors report the second case in the English language literature of a rare abnormality of the fingers and nails associated with Pierre Robin syndrome. The patient was born at term to non-consanguineous parents. The only potentially toxic drug taken by the mother during the first months of pregnancy was Sympathyl, a combined preparation of phenobarbitone, methenamine and plant extracts (boldo, crataegus) used as sedative. The child presented at birth with typical Pierre Robin syndrome responsible for respiratory distress, associated with hypotonia, dysplasia of the right hip and cardiac murmur. His development was marked by pronounced psychomotor retardation. At the age of four the patient was referred for congenital malformations of the hands, and notably bilateral and symmetrical abnormalities of the 5th finger consisting of inflammatory-like tapering, soft tissue hypotrophy, sucked appearance of the ungual phalanx, absence of palmar flexion folds and skin ridges and above all, presence of an ectopic supernumerary nail on the volar aspect of the ungual phalanx. This extra nail was not fused with the dorsal nail, although both met at their lateral edges. Other abnormalities were camptodactylia of the 4th fingers, clinodactylia of the 4th and 5th fingers and irreducible extension of the 5th fingers contrasting with hyperlaxity of their metacarpophalangeal joint. The karyotype (46 XY) was normal. Avulsion of the ectopic nails confirmed that they were distinct from the dorsal nails, having their own matrix.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Onychoheterotopia with polyonychia associated with Pierre Robin syndrome: apropos of a new case. (Trial of classifying nail ectopia)]. 375 62

Cerebrospinal fluid aminoacid analysis in a girl with severe psychomotor retardation, hypotonia, hyperreflexia and growth acceleration showed highly increased levels of free gamma-aminobutyric acid (4.8 mumol/l; range in twenty controls 0.04-0.12, median 0.08), homocarnosine, a dipeptide of gamma-aminobutyric acid and histidine (23.4 mumol/l; control range 4.0-8.7, median 7.6) and of beta-alanine, an alternative substrate for gamma-aminobutyric acid-transaminase (0.48 mumol/l; control range 0.02-0.06, median 0.05). Liver gamma-aminobutyric acid-transaminase activity was deficient (0.07 mumol/mg protein h; range in ten controls 0.31-0.69, median 0.38). Fasting plasma growth hormone levels were increased (7.9-38.4 ng/ml; nl less than 5). Brain evoked responses were suggestive of leukodystrophy. A brother of this patient, showing a similar clinical picture, had died at one year. Postmortem examination of his brain showed leukodystrophy of the type seen in amino acidopathies such as phenylketonuria. This appears to be the first report of gamma-aminobutyric acid-transaminase deficiency.
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PMID:Gamma-aminobutyric acid-transaminase deficiency: a newly recognized inborn error of neurotransmitter metabolism. 614 8

A family composed of parents and four children is reported. Two brothers presented from early infancy with hypotonia and non-progressive weakness. Muscle biopsy in both revealed numerous typical nemaline rods. The father, suffering from backache, had a slow MNCV of both common peroneal nerves. His muscle revealed variation in fiber size, splitting, type 1 atrophy and numerous pleomorphic mitochondria with crystalline inclusions. The mother's muscle showed type 2 atrophy, foci of myofibrillar degeneration, and lipofuscin bodies. In a 12-year-old daughter and a 5-year-old son the muscle revealed an excess of small, bizarre mitochondria and lipid droplets. The coexistence of nemaline myopathy and a mitochondrial neuromuscular disorder in one family has never been reported in the literature. It might be a coincidence of two rare muscle disorders in one family, or it might be the polymorphic expression of a single etiological factor causing a defect in protein synthesis.
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PMID:Nemaline myopathy and a mitochondrial neuromuscular disorder in one family. 626

A case of cytochrome c oxidase deficiency primarily affecting skeletal muscle is described. The child was admitted at 4 weeks due to failure to thrive and examination at that time revealed weakness and hypotonia. His condition deteriorated until at 11 weeks respiratory arrest necessitated artificial ventilation and death occurred at 14 weeks. Biochemical investigation showed lactic acidaemia and generalised aminoaciduria. Histochemical examination of muscle obtained at biopsy showed strong reactions for some oxidative enzymes, but by contrast cytochrome c oxidase could not be detected. Cytochrome c oxidase activity was less than 5% of control values in an extract of fresh muscle. The reduced-minus oxidised absorption spectra of muscle mitochondrial fractions prepared from post-mortem tissue showed an absence of cytochrome aa3 and a partial deficiency of cytochrome b. Ultra-structural examination showed abnormal mitochondria with loss of cristae and an abnormal granular matrix. The family history suggests autosomal recessive inheritance.
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PMID:Fatal infantile mitochondrial myopathy due to cytochrome c oxidase deficiency. 631 67

Two autopsy cases of congenital muscular dystrophy of Fukuyama type (F-CMD) were described. The first case was diagnosed clinically and pathologically as its typical case. Neither his family history nor the history of his prenatal period were contributory. He had suffered from muscle weakness and atrophy since his birth. Serum CPK was markedly elevated. EMG and muscle biopsy proved dystrophic changes of the skeletal muscles. In addition, he manifested mental retardation and attacks of convulsion. EEG failed to elicit remarkable changes, but PEG represented ventricular dilatation. He died of respiratory insufficiency at age 12. His postmortem examination showed variegated anomalies in the nervous system. Extensive micropolygyria was present in the cerebrum and cerebellum accompanied by adhesions between the bilateral cerebral hemispheres. Assymmetry of the longitudinal fibers was pointed out in the pontine base. Anterior horn cells were atrophic and moderately depopulated. On the other hand, the second patient was an atypical F-CMD case in symptoms, signs and pathology. His grand-mothers on both father's and mother's sides wee first cousins. His three siblings showed no similar disorders. His mother developed slight gestational toxicosis in the sixth and seventh months of pregnancy. His muscle weakness, contracture of the bilateral hip-joints and clubfoot had been observed since his birth. Physical and neurological examinations at age 6 showed deformity of the skull, myopathic face, macroglossia, high-arched palate, pigeon chest, scoliosis of the thoracic spine. In addition, generalized muscular atrophy, hypotonia and areflexia were recognized. Pseudohypertrophy of the muscles was absent. Sensation was intact to all modalities. Serum CPK and LDH were moderately increased.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[2 autopsy cases of congenital muscular dystrophy of Fukuyama type--a typical and an atypical cases]. 652 23

A family with hypercalcemia in four members is reported. The proband, a newborn girl presenting with inadequate sucking due to muscle hypotonia, marked thoracic deformity due to decalcification, hypercalcemia, and hypophosphatemia, suffers from cerebral damage due to hypoxia despite successful total parathyroidectomy of four hyperplastic glands and replacement therapy. Her 31-year-old father showed CCa/Ccr of 0.0094, normal serum Mg, hypercalcemia, hypophosphatemia and normal renal concentrating ability without kidney stone and bone abnormality. Subtotal parathyroidectomy caused only a transient fall of serum Ca. His half sister and her daughter also had symptomless hypercalcemia. Recognition of familial hypocalciuric hypercalcemia is important to avoid unnecessary parathyroid surgery and to respond effectively to severe neonatal primary hyperparathyroidism occasionally seen in such kindred.
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PMID:Familial hypocalciuric hypercalcemia involving four members of a kindred including a girl with severe neonatal primary hyperparathyroidism. 684 19

We describe a 1-year-old boy with a rare de novo 46,XY/47,XY, + i(5p) mosaicism (ratios 28/3 in peripheral blood lymphocytes and 2/12 in skin fibroblasts). The boy, born after a pregnancy of 34 weeks, had lung hypoplasia, persistent hypotonia, and postnatal growth failure. Craniofacial anomalies were also present. His clinical manifestations correspond to those described in trisomy 5p patients. Prenatal diagnosis on maternal age indication had shown normal male chromosomes in 16 cells in the short term culture of a chorionic villus sampling. Retrospectively, 1 out of 217 cells in this culture showed the i(5p). Several mechanisms could have resulted in the formation of this 46/47, + i(5p) mosaic. Postzygotic local incorrect ligation during chromatid replication, followed by a second replication offers an attractive model on theoretical grounds since it needs only one step to explain both isochromosome formation and mosaicism. Differences between the various tissues in selection pressure on cells with the isochromosome might explain the different ratios of mosaicism found.
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PMID:Tetrasomy 5p mosaicism in a boy with delayed growth, hypotonia, minor anomalies, and an additional isochromosome 5p [46,XY/47,XY, + i(5p)]. 750 82

A 1-year-and-9-months old boy with gait disturbance during the 3rd week of Kawasaki disease (KD) was described. He had been previously healthy, and developed high fever and rash. The diagnosis of KD was based on 5 of 6 major criteria on the 3rd clinical day. He was initially treated with intravenous gamma-globulin 400 mg/kg/day for five days. On the 17th clinical day, the patient developed gait disturbance after most clinical signs disappeared. His gait was wide- based and unstable. Generalized hypotonia with poor traction response was also seen. Pyramidal tract signs including exaggerated patellar and Achilles tendon reflexes and positive bilateral Mendel-Bechterew reflex were presented. Cerebrospinal fluid was normal. Brain CT, MRI, and 123I-IMP SPECT images were normal without broad hemorrhage or infarction of the cerebral parenchyma. Gait disturbance recovered spontaneously within one month without any sequelae.
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PMID:[Neurological involvements with transient gait disturbance in subacute phase of Kawasaki disease; a case report]. 761 94

We presented a case of severe postoperative choreoathetosis which occurred in a 3-year-old boy with tetralogy of Fallot early postoperatively but almost completely recovered within two years after the operation. Because of the large coronary arterial branch on the right ventricular outflow, a small outflow incision and deep hypothermia (lowest rectal temperature was 13 degrees C) and short duration of circulatory arrest (8 minutes) were adopted. Postoperative course was uneventful till the onset of choreoathetosis on the fifth postoperative day. His symptoms and signs of choreoathetosis, oral-facial dyskinesias, hypotonia, affective changes and also pseudobulbar signs were becoming serious during the first week from the onset, but afterwards his condition started getting better gradually every week, and every month. Now, 20 months after the operation, he is almost completely recovered except for small and slow involuntary movements. Though investiations including CT, MRI and EEG were all almost normal, regional nonspecific low area of the frontal lobe and cerebellum was detected by SPECT (single photon emission computed tomography) on the 32nd and 94th postoperative days, respectively.
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PMID:[Postoperative choreoathetosis in a case of tetralogy of Fallot]. 788 49


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