Cases reported "Abnormalities, Multiple"

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1/156. Radiofrequency ablation of a posteroseptal atrioventricular accessory pathway in a left-sided tricuspid ring with Ebsteinlike anomaly in a patient with congenitally corrected transposition of the great arteries.

    Radiofrequency ablation successfully eliminated a posteroseptal accessory pathway in a left-sided tricuspid ring with Ebsteinlike anomaly in a patient with a congenitally corrected transposition of the great arteries.
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ranking = 1
keywords = frequency
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2/156. Surviving cochlear function in the presence of auditory nerve agenesis.

    This case reports electrophysiological evidence for cochlear function in a child with radiological evidence of bilateral auditory nerve agenesis or severe hypoplasia. The diagnosis of auditory nerve agenesis was supported by a bilateral atresia of internal auditory canals on computed tomography (CT) scan and magnetic resonance imaging (MRI) absent auditory brainstem responses and absent behavioural responses to sound. Despite the apparent absence of an auditory nerve or spiral ganglion, electrocochleography revealed surviving cochlear function at 70-80 db HL and an abnormal electrocochleographic waveform. This case demonstrates that cochlear function may develop without afferent, or efferent innervation. It also emphasizes that cochlear function may occur in the presence of profound deafness.
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ranking = 0.015642915701899
keywords = wave
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3/156. Limb deficiencies in infants with trisomy 13.

    In 1994, we published a case with trisomy 13 who presented with ectrodactyly [Urioste et al., 1994: Am J Med Genet 53:390-392]. Recently, Kuschel and Gillessen-Kaesbach [2000: Am J Med Genet 90:87-88] presented an infant with trisomy 13 who also had oligodactyly, and they considered their case as the second published with oligodactyly. Here, we present three cases with any type of limb deficiencies who, together with the one that was published previously [Urioste et al., 1994], correspond to the total of 75 cases with trisomy 13 identified in the Spanish Collaborative Study of Congenital Malformations (ECEMC). This gives us a minimum frequency of 5.33% (CI:1.45-13.65) for trisomy 13 cases having limb deficiencies whereas these defects have a frequency of 5.51 per 10,000 births in our population. Consequently, we think that limb deficiencies could be considered as one of the defects that constitute the spectrum of anomalies observed in infants with trisomy 13.
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keywords = frequency
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4/156. angelman syndrome in three adult patients with atypical presentation and severe neurological complications.

    angelman syndrome (AS) is a distinct neurogenetic disorder and the phenotype is well known in childhood and adolescence. However, with advancing age the clinical and behavioral phenotype changes. In adulthood, the phenotype can be rather aspecific. We report on AS in 3 severely to profoundly mentally retarded patients, who developed severe neurologic complications of severe tremor, spasticity and coordination problems, resulting into severe loss of function. They presented atypical craniofacial features, short stature, epileptic seizures, microcephaly, brachytelephalangy and absent speech. Two patients presented at an older age a change in day-night rhythm. Based on this experience, we conclude that all severely to profoundly mentally retarded patients with atypical phenotype, spasticity, absent speech, epileptic seizures and changed day-night rhythm are candidates for further cytogenetic and molecular investigation for AS. Clinical photographs of the patient at a younger age can be helpful. The presence of the typical EEG pattern with frontal triphasic delta waves may direct to the diagnosis of AS.
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ranking = 0.015642915701899
keywords = wave
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5/156. A second case of inv(4)pat with both recombinants in the offspring: rec dup(4q) in a girl with wolf-hirschhorn syndrome and rec dup(4p).

    In a girl presenting with features of wolf-hirschhorn syndrome, cytogenetic and molecular cytogenetic analysis revealed a rearranged chromosome 4 with monosomy of the distal bands 4pter-->4p16.2 and trisomy of the distal bands 4q35.1-->4qter [rec dup(4q)] due to a large, paternal pericentric inversion. In the following two pregnancies, prenatal diagnosis showed the same imbalance in one fetus and a reverse segmental imbalance [rec dup(4p)] in the other. We discuss the recombination risk of the given inversion with respect to the size of the inverted segment and the viability of the recombinants. The high frequency of recombinants in this family and others suggests a high recurrence risk in similar cases with large pericentric inversions comprising almost entire chromosomes.
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ranking = 2.7201600347593
keywords = high frequency, frequency
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6/156. A characteristic EEG pattern in 4p-syndrome: case report and review of the literature.

    Deletions on the short arm of chromosome 4 cause wolf-hirschhorn syndrome (WHS) and Pitt-Rogers-Danks syndrome (PRDS). WHS is associated with severe growth and mental retardation, microcephaly, a characteristic facies and congenital malformations. The PRDS phenotype is similar to WHS but generally less severe. seizures occur in the majority of WHS and PRDS patients. Sgro et al. [17] described a stereotypic electroclinical pattern in four unrelated WHS patients, consisting of intermittent bursts of 2-3 Hz high voltage slow waves with spike wave activity in the parietal areas during drowsiness and sleep associated with myoclonic jerks. We report a patient with PRDS and the typical EEG pattern and review 14 WHS patients with similar EEG findings reported in the literature. CONCLUSION: awareness and recognition of the characteristic electroclinical findings in wolf-hirschhorn syndrome and Pitt-Rogers-Danks syndrome might help in the early diagnosis of such patients.
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ranking = 0.031285831403798
keywords = wave
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7/156. Management dilemmas in patients with hereditary renal adysplasia.

    We report a neonatal case of right renal aplasia with left dysplastic kidney and mild pulmonary hypoplasia. The respiratory insufficiency gradually improved on high frequency oscillation and conventional ventilation. Severe hypotension necessitated the use of inotrops. anuria and electrolyte imbalances were managed by peritoneal dialysis. At age 13 days the baby had a small bowel perforation, developed septic shock and, after discussion with the multi-disciplinary team and the family, inotropic support was withdrawn and the baby died. The family history revealed the father had a newborn from a previous marriage who died secondary to bilateral renal agenesis. Renal studies in the father showed agenesis of the kidney with normal renal functions suggesting the diagnosis of hereditary renal adysplasia, an autosomal dominant condition with variable expression. This case illustrates the importance of renal ultrasound of the parents and siblings of affected newborns with structural kidney anomalies. A general consensus is lacking as to which infants with bilateral renal adysplasia should be aggressively treated.
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ranking = 2.7201600347593
keywords = high frequency, frequency
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8/156. Balanced reciprocal translocation mosaicism: clinical implications. Two new cases.

    Two new cases of balanced reciprocal translocation mosaicism (BRTM) are described, one with early miscarriages and a polymalformed child and the second showing an abnormal phenotype resembling the three cases previously reported in literature. The frequency of this aberration in the population referred to in our laboratory is determined and compared with previous publications.
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ranking = 0.2
keywords = frequency
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9/156. Ring 20 chromosome syndrome with epilepsy and dysmorphic features: a case report.

    Relatively few cases of the 20 ring chromosome [r(20)] syndrome have been reported. Epileptic seizures, behavioral problems, mental retardation, and absence of definite dysmorphic features characterize this syndrome. We present a patient with the classic genetic and phenotypic findings. A 42-month-old boy with mild dysmorphic features and psychomotor retardation has had generalized tonic-clonic seizures, resistant to antiepileptic drug therapy since he was 26 months old. electroencephalography (EEG) was performed on several occasions, as were brainstem auditory evoked potentials (BAEPs), magnetic resonance imaging (MRI), and cytogenetic studies. The EEG showed slow waves in anterior regions intermingled with spikes in temporal areas. The BAEPs were abnormal, and neuroimaging studies were normal. The chromosome r(20) appeared in 100 metaphases studied. Parental chromosomes were of normal karyotype. The genetic and EEG finding from this patient strongly suggest that epilepsy associated with 20 ring chromosome syndrome is a distinct new entity, although the clinical manifestations may be broader than previously recognized.
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ranking = 0.015642915701899
keywords = wave
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10/156. Complete elimination of incessant polymorphic ventricular tachycardia in an infant with MIDAS syndrome: use of endocardial mapping and radiofrequency catheter ablation.

    Experience with radiofrequency catheter ablation of ventricular tachycardia (VT) in pediatric patients is limited. A 5-month-old white female infant (body weight 5.5 kg) with MIDAS syndrome who suffered from incessant polymorphic VT (ventricular rates 250 to 300 beats/min) and was unresponsive to medical treatment resulting in significantly depressed left ventricular (LV) function underwent a total of four catheter ablation procedures during a 5-month period. Each of the procedures reduced the number of morphologies and the rate of the tachycardia, but VT returned after each of the first three procedures, despite concomitant medical therapy. Activation mapping and pace mapping were used to identify the anatomic substrates, which were found at different locations at the LV septum and LV free wall. All forms of VT finally were ablated successfully. There were no significant complications. After the fourth procedure, the patient was in continuous sinus rhythm. Follow-up examination 29 months after the last procedure while the child was not taking any medication showed normal sinus rhythm and normal LV function. This report demonstrates the usefulness and safety of radiofrequency catheter ablation in an infant with polymorphic VT who was unresponsive to medical therapy.
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ranking = 1.2
keywords = frequency
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