Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0264733 (ventricular dilatation)
 2,163 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An 11-year-old girl with congenital myotonic dystrophy and infantile autism was reported. Her mother also suffered from typical myotonic dystrophy. Since her birth, the patient had been floppy, and showed bilateral talipes equinus at 1 year of age. Her subsequent psychomotor and speech development has been retarded. She showed autistic behavior and persistence to the sameness before 2 years old. She was admitted to Sawarabien at the age of 10 years. She could not talk anything but could understand simple, oral messages. Although she had severe degree of mental retardation, her ability for matching figures was relatively well reserved. Her autism was so manifest that it could not be explained by the degree of mental retardation. Neurological examinations revealed that she had facial diplegia, inverted V-shaped mouth, high-arched palate, talipes equinus, percussion myotonia of the tongue, generalized muscular atrophy and weakness, lordosis, areflexia, and congenital cataracta. The serum CPK was slightly elevated. EMG showed a myopathic pattern but did not show any myotonic discharge yet. The brachioradial muscle was biopsied and examined by light- and electron-microscopy. It mainly showed mild varieties of muscle fiber diameter and internal nuclei. Ultrastructurally, irregularly indented central nuclei and perinuclear degeneration of myofibrils associated with secondary lysosomes, lipid droplets and glycogen granules were revealed. Ventricular dilatation and some dysfunction of the brain were also revealed by CT scan and EEG respectively. The present case suggests that congenital myotonic dystrophy can be added into the disease group associated with infantile autism.
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PMID:[A case of congenital myotonic dystrophy with infantile autism]. 278 60

Two-dimensional echocardiography (2-D echo) was performed for six postoperative patients who had acute myocardial infarction (AMI)-like electrocardiographic (ECG) changes. All but one, who had coronary T waves, demonstrated abnormal Q waves in V1-V4, decreased amplitude of R waves, and low voltage in limb leads. ST elevation was also observed. Abnormal Q waves in V1-V4 began to resolve in a few days and the QRS complex reverted to normal within one month; however, coronary T waves were observed for at least three months. In the remainder one, persistent Q waves were present from the onset. 2-D echo, performed simultaneously with ECG, showed akinesis or dyskinesis accompanied by ventricular dilatation, not only at the anterior septum, anterior wall and around the apex, but in more extensive areas in four of five cases with abnormal Q waves in V1-V4. In two other cases, which showed abnormal Q or coronary T waves alone, akinesis was limited to the anterior septum and to the septal site and anterior wall of the apex. All abnormal findings on 2-D echo completely resolved within one month, as the ECG findings returned to normal. Compared with typical AMI showing abnormal Q waves in V1-V4, asynergy was recognized in more extensive areas and abnormal wall motion indices significantly improved in the postoperative cases. In the postoperative cases with AMI-like ECG, the CPK-MB fraction increased; however, the peak level of CPK was lower than that in typical AMI. On the basis of these results, transient AMI-like ECG findings in postoperative cases are due to extensive myocardial damage, which is probably derived from focal myocytolysis.
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PMID:[Transient appearance of asynergy on the echocardiogram and electrocardiographic changes simulating acute myocardial infarction following non-cardiac surgery]. 383 59

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

Nine children in the age group of new born to 10 years were seen during the period October 1989 to January 1993 with varying manifestations of Myocarditis. This ranged from cardiogenic shock due to fulminant cardiac failure, recurrent wheezy episodes (mistakenly treated as bronchial asthma) bronchiolitis and rhythm disturbances. Clinical picture was collaborated by radiological evidence of cardiomegaly, ECG changes of low voltage QRS complexes with ST depression, T wave inversion or signs of left ventricular dilatation. SGOT, SGPT, CPK, LDH were elevated significantly in 7 cases. Echocardiographic changes ranged from left ventricular dilatation to global hypokinesia and mild mitral incompetence. Viral studies suggested infection with Coxsackie B1 in 4 cases, B4 in 2, B5 in 2 and Dengue 3 in 1 case. All the children recovered well with routine anti failure measures and treatment of arrhythmias and 2 children needed steroid therapy. At the end of follow up of 6 months to 1 year there has been complete reversal of ECHO changes to normal. Viral Myocarditis can manifest in varied ways in children and if treated adequately may lead to complete recovery.
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PMID:Varied manifestations of viral myocarditis. 792 2