Cases reported "Abnormalities, Multiple"

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1/473. Successful correction of double-outlet right ventricle with a ventricular D-l-malposition of the great arteries, bilateral conus, pulmonary stenosis and subaortic ventricular septal defect.

    The authors present the case of a fifteen-year old girl with double outlet right ventricle with ventricular d-loop and l-malposition of the great arteries, bilateral conus, pulmonary stenosis and subaortic ventricular septal defect, who was operated on successfully. This is the fourth case of double outlet right ventricle with l-position of the aorta that has been surgically corrected. The subaortic position of the interventricular defect favours the creation of the tunnel connecting the left ventricle with the aorta without obstructing the right ventricular outflow tract. The patient was doing well 11 months postoperatively.
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keywords = ventricle
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2/473. Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature.

    The prenatal diagnosis of a 1p36 deletion is reported. The pregnancy was ascertained at 24 weeks of gestation because of the discovery of multiple malformations at ultrasound including hypotelorism, moderate cerebral ventricular dilatation and ebstein anomaly with secondary cardiac failure. Following cytogenetic studies and counselling, the pregnancy was terminated and a fetal autopsy performed. The phenotype of this antenatally-diagnosed case is compared with the clinical features of 44 previously reported cases with an identical deletion of the short arm of chromosome 1p36.
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ranking = 0.019598002903277
keywords = cerebral
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3/473. Ocular malformations, moyamoya disease, and midline cranial defects: a distinct syndrome.

    PURPOSE: To report a 10-year-old girl with developmental anomalies of both optic disks, a chorioretinal coloboma, sphenopharyngeal meningoencephalocele, and moyamoya disease. methods: A full ophthalmologic examination, cranial magnetic resonance imaging and magnetic resonance angiography, and cerebral angiography were performed. RESULTS: The patient had a morning glory disk anomaly and microphthalmos of the right eye and optic nerve hypoplasia and retinochoroidal coloboma in the left eye. She had a midfacial cleft and an episode of seizures and a stroke. magnetic resonance imaging showed a sphenopharyngeal meningoencephalocele. magnetic resonance angiography and cerebral angiography demonstrated a pattern consistent with moyamoya disease. CONCLUSIONS: This patient had a distinct syndrome of optic disk, retinochoroidal, and carotid circulation anomalies with midline cranial defects. The recognition and treatment of the vascular abnormalities and cranial defects may prevent complications such as strokes that may occur during or after general anesthesia.
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ranking = 0.039196005806554
keywords = cerebral
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4/473. Does the tuberous sclerosis complex include intracranial aneurysms? A case report with a review of the literature.

    BACKGROUND: tuberous sclerosis is a protean, genetically determined disease that may involve any organ or tissue and lead to a great number of symptoms and clinical features. OBJECTIVE: Diagnosis can be very difficult in cases with incomplete manifestations (formes fruste) lacking the classic signs of the disease. MATERIALS AND methods: We report a case fulfilling the diagnostic criteria for tuberous sclerosis (shagreen patches, hypomelanotic macules, renal cysts and angiomyolipomas, and "migration tracts" in the cerebral white matter) in association with a giant intracranial aneurysm, but lacking mental retardation, epilepsy and facial angiofibroma. RESULTS: Fourteen other cases of tuberous sclerosis and intracranial aneurysms, all but one without any clear sign of polycystic kidney disease, were found in the literature. CONCLUSION: We suggest that vascular dysplasias in general and aneurysms (mainly intracranial) in particular can be added to the other non-primary diagnostic features for the clinical diagnosis of tuberous sclerosis.
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ranking = 0.019598002903277
keywords = cerebral
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5/473. Successful therapy in a child with a congenital peripheral medulloepithelioma and disruption of hindquarter development.

    PURPOSE: Medulloepithelioma is an embryonal multipotential neuroepithelial tumor with a striking potential for divergent differentiation. It is usually intraocular or intracerebral and associated with a good prognosis only if completely surgically excised. Data regarding therapy in children with incompletely resected tumors are limited. PATIENT AND methods: A girl was born with a large, peripheral, congenital medulloepithelioma associated with complete absence of the left hindquarter and anus. Plain film, ultrasonography, and magnetic resonance imaging demonstrated complete absence of the left kidney and hemipelvis. A subtotal resection of the mass and reconstruction of the tumor-related anatomical defects were performed. RESULTS: Pathologic examination showed neuroglia and pseudostratified neuroectoderm diagnostic of medulloepithelioma. She was treated with multiagent chemotherapy including vincristine, cisplatin, cyclophosphamide, carboplatin, and etoposide. She is now 50 months of age and developing normally without recurrent disease. CONCLUSIONS: A child with an incompletely resected congenital peripheral medulloepithelioma who has experienced long-term disease-free survival after treatment with chemotherapy is described. This report supports a role for adjuvant chemotherapy in the treatment of children with peripheral medulloepithelioma.
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ranking = 0.019598002903277
keywords = cerebral
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6/473. Autistic disorders in children with CHARGE association.

    Three children with CHARGE association (coloboma, heart defect, atresia of the choanae, retarded growth and development, genital hypoplasia, ear anomalies and hearing defects) as well as concomitant autistic disorder are reported. Two of the children also had mental retardation. Several types of cerebral maldevelopment/dysfunction have been reported in CHARGE association. With regard to aetiology, involvement of the neural crest has been suggested. Autism in CHARGE association may represent a neuro-endocrine dysfunction. Children with a CHARGE association have many medical problems and therefore autistic behaviour can easily be overlooked. A multidisciplinary approach with respect to assessment, treatment, and habilitation is of vital importance.
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ranking = 0.019598002903277
keywords = cerebral
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7/473. Joubert's syndrome and prenatal hydrocephalus.

    Joubert's syndrome is an autosomal-recessive condition characterized by dysgenesis of the cerebellar vermis, hypotonia, developmental delay, a respiratory pattern of alternating tachypnea and apnea, and abnormal eye movements. Radiologic findings include a midline cerebellar cleft in place of the vermis and a characteristic shape of the fourth ventricle. Prenatal hydrocephalus has been proposed as a possible etiology for the cerebellar abnormalities but has not previously been described in association with this syndrome. The authors report a patient with clinical and radiographic features consistent with Joubert's syndrome who presented with congenital hydrocephalus.
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ranking = 0.14285714285714
keywords = ventricle
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8/473. XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28.

    We report on a family with severe X-linked mental retardation (XLMR) and progressive, severe central nervous system deterioration. Three of the five affected males died of secondary complications before the age of 10 years and none have survived past the age of 10. These complications included swallowing dysfunction and gastroesophageal reflux with secondary recurrent respiratory infections. In addition, hypotonia and a mild myopathy were also present. All had a characteristic facies, including downslanting palpebral fissures, hypertelorism, and a short nose with a low nasal bridge. The two older boys showed cerebral atrophy by CT. No metabolic abnormalities were identified. Three obligate carriers had an IQ less than 80. The causal gene has been localized distal to DXS8103 in Xq28, a region spanning 5cM. No other XLMR disorder with these manifestations have been localized to this region and this appears to be a new disorder.
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ranking = 0.019598002903277
keywords = cerebral
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9/473. Miller-Dieker syndrome and trisomy 5p in a child carrying a derivative chromosome with a microdeletion in 17p13.3 telomeric to the LIS1 and the D17S379 loci.

    trisomy 5p and Miller-Dieker syndromes frequently are the result of unbalanced segregations of reciprocal translocations of chromosomes 5 and 17 with other autosomes. The critical regions for the expression of the mentioned syndromes have been mapped to 5p13-->pter, and 17p13.3-->pter. In this report, we describe an 8-year-old girl with mental retardation, postnatal growth deficiency, generalized muscular hypotonia, seizures, microcephaly, cortical atrophy, partial agenesis of corpus callosum, cerebral ventriculomegaly, facial anomalies, patent ductus arteriosus, pectus excavatum, long fingers, and bilateral talipes equinovarus caused by the presence of a 46,XX,der(17)t(5;17)(p13.1;p13.3)mat chromosome complement. Cytogenetic studies of the family confirmed a balanced reciprocal translocation (5;17)(p13.1;p13.3) in her mother, maternal grandfather, maternal aunt, and a female first cousin. fluorescence in situ hybridization studies on the mother and the proposita using three probes, which map to distal 17p, confirmed the reciprocal translocation in the mother and a terminal deletion in the patient, which resulted in the retention of LIS1 and D17S379 loci and deletion of the 17p telomere. These findings and the phenotype of the proposita, strongly suggest that genes telomeric to LIS1 and locus D17S379 are involved in many clinical findings, including the minor facial anomalies of the Miller-Dieker syndrome.
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ranking = 0.019598002903277
keywords = cerebral
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10/473. Aplasia of right internal carotid artery and hypopituitarism.

    BACKGROUND: The pathogenesis of congenital hypopituitarism is unknown in many cases. OBJECTIVE: We report a case of congenital pan-anterior hypopituitarism in association with a complex vascular abnormality involving the central nervous system, nasal pyriform aperture stenosis, and a single central maxillary incisor. MATERIALS AND methods: MRI and MRA were used to define this patient's complex vascular anomaly. RESULTS: The vascular abnormality consists of absence of the right common carotid artery, the right internal carotid artery, the A1 segment of the right anterior cerebral artery, the anterior communicating artery, and partial absence of the M1 segment of the right middle cerebral artery. CONCLUSION: This unusual vascular anomaly may contribute to the pathogenesis of some cases of congenital hypopituitarism and related midline abnormalities, or may result from a common defect that causes pituitary insufficiency.
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ranking = 0.039196005806554
keywords = cerebral
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