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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Clinical and autopsy data on 25 patients with DiGeorge syndrome and its variants are presented. Congenital heart disease was the most common presenting complaint; 15 patients came to medical attention in the first 48 hours of life because of cyanosis, cardiac murmurs, or tachycardia and tachypnea. Two unusual anomalies, interrupted aortic arch or truncus arteriosus, were seen in 17 patients. Clinically documented hypocalcemia associated with seizures was seen in ten patients, with a median age at onset of eight days. Fifteen of our 25 patients died at less than one month of age. Most of the patients surviving the first month of life developed purulent rhinitis, maculopapular rashes, failure to thrive, and developmental delay. Sixteen patients had major congenital anomalies not localized to the anterior neck and thorax; these anomalies included arhinencephaly, cleft lip, palate, or uvula, diaphragmatic abnormalities, hydronephrosis, malrotation of the gut and imperforate anus. The 24 autopsied cases constitute 0.7% of the 3,469 sequential postmortem studies done in the period 1950--1975 at The Children's Orthopedic Hospital and Medical Center.
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PMID:The spectrum of the DiGeorge syndrome. 44 29

An epidemiologic investigation found a 17.5% prevalence of psychogenic polydipsia in 241 hospitalized psychiatric patients. A randomly selected sample of 10 polydipsic patients revealed such associated disorders as sporadic convulsive seizures, comatose states, hydronephrosis, enuresis/urinary incontinence, projectile type vomiting, malnutrition and, in one case, cardiomegaly and edema. Psychogenic polydipsia is a frequently overlooked disorder, and the somatic consequences of the excessive fluid intake are usually ascribed to other causes.
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PMID:Somatic findings in patients with psychogenic polydipsia. 682 31

The acronym DOOR was first used by Cantwell in 1975 to describe a syndrome comprising sensorineural deafness, osteodystrophy, onychodystrophy, and mental retardation. To date, 16 cases of the syndrome have been documented in the literature. We present two sisters who died in early infancy with the clinical features of DOOR syndrome, both of whom in addition had cardiac defects and urinary tract abnormalities. Both infants had the classical clinical features of sensorineural deafness, seizures, hypoplastic nails, finger-like thumbs, and the characteristic facies of the syndrome. Autopsy in each case revealed the additional findings of a membranous ventricular septal defect and a septum secundum atrial septal defect. The first child had left-sided hydronephrosis and hydroureter, and the second sibling had bilateral hydronephrosis, hydroureter, and dilatation of the bladder. Congenital heart disease and renal abnormalities have not to our knowledge been previously described in association with the DOOR syndrome.
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PMID:Congenital heart disease and urinary tract abnormalities in two siblings with DOOR syndrome. 780 78

Three fetuses with normal chromosomes were found to have uni- or bilateral hydronephrosis during the third trimester of pregnancy. At birth, they presented with coarse face, hypertelorism, and a deep groove under the eyes. Fontanelles and sutures were wide open. Genital abnormalities were present in 2 cases. Skeletal radiographs showed delayed bone maturation, broad and dense ribs, and a wide synchondrosis between the exoccipital and supraoccipital bones. The combination of such findings suggested the diagnosis of Schinzel-Giedion syndrome. Two patients died soon after birth, whereas the third one developed severe mental and motor retardation with seizures and spasticity, and died at 18 months. Schinzel-Giedion syndrome is rare and likely to be inherited as an autosomal recessive trait. So far, 13 well-documented cases have been reported allowing major and minor traits of the syndrome to be distinguished. Since no genetic marker is available, the prenatal diagnosis of Schinzel-Giedion syndrome relies on ultrasound examination, especially detection of renal abnormalities.
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PMID:Three new cases of the Schinzel-Giedion syndrome and review of the literature. 816 Jul 60

During normal circumstances, individuals have a delicate balance of water requirement and water intake. If the balance of water is altered, electrolyte imbalance can occur. If fluid intake continues uncurbed, an extreme condition may result known as self-induced water intoxication and psychoses. If untreated, complications may develop, including dilated and hypotonic bowel and bladder, hydronephrosis, renal failure, congestive heart failure, mild confusion, acute delirium, seizures, coma, and death. The ongoing problem of water intoxication presents a modern day nursing challenge to psychiatric nurses. The present study monitors nine chronically ill patients in a special program for water intoxication involving control and monitoring and a psychoeducational group approach in a closed unit of a state hospital. At the end of 3 months serum electrolytes, serum osmolality, and urine specific gravity were within normal limits since the start of the program. Anxiety, as evidenced by restlessness, pacing, increased talking, demanding behavior, hyperactivity, yelling, and irritability, had lessened. This improvement was accompanied by a stabilization of psychotic behavior. The use of restraints dropped from 1303 hr in the 3 months before the program to 20 hr and 55 min for the nine patients in the first 3 months of the program. Progress in relation to the study hypothesis will be evaluated every 3 months.
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PMID:A program for water-intoxicated patients at a state hospital. 836 31

X-linked mental retardation (XLMR) is genetically heterogeneous and clinically variable. We describe a new XLMR syndrome of severe mental retardation and multiple congenital anomalies. Two sisters have (with 3 different partners) 3 severely handicapped sons. In 2 cases, oligohydramnios and intrauterine growth retardation were noted. Common anomalies included a square-shaped face, high and broad forehead, frontal bossing, downward slant of palpebral fissures, hypertelorism, epicanthic folds, long philtrum, thin upper lip, and apparently low-set ears. One boy has bilateral microphthalmos and sclerocornea, and his cousin has atrophy of the optic nerve. All 3 patients are blind and have profound statomotor and mental retardation, seizures, and a grossly abnormal electroencephalographic pattern. Additional findings are short stature, delayed bone maturation, hydronephrosis, vesicorenal reflux, cryptorchidism, clinodactyly of the 5th fingers, and transverse palmar creases. The karyotype is normal (46,XY). Segregation analysis showed perfect coinheritance between the clinical phenotype and alleles at several loci in Xp22.3, whereas recombinants were identified with marker loci from Xp22.2-qter. Analysis of multiple informative meioses suggests that the disease locus maps in Xp22.3 distal to DXS16.
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PMID:New X-linked mental retardation syndrome with the gene mapped tentatively in Xp22.3. 882 47

A woman and her lover were accused of murdering the woman's husband. Five weeks after fracture/dislocations of both shoulders and a central fracture/dislocation of the right hip were diagnosed the woman's husband died of septicaemia consequent on a ruptured infected hydronephrosis. The shoulder and hip injuries and the ruptured hydronephrosis were attributed to a beating with a blunt instrument. A review of the medical records of the deceased, particularly his radiological examinations, led the authors to conclude that his joint injuries and ruptured kidney were not due to the alleged assault. The joint injuries were the consequence of epileptic seizures and the ruptured kidney was also due to natural causes. These medical opinions provided evidence that led to acquittal of the accused.
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PMID:Complications of epilepsy and a ruptured pyonephrosis: radiology to the rescue in the Brooks murder case. 959 28

Nephrogenic diabetes insipidus (NDI) is characterised by the inability of the kidney to concentrate urine in response to arginine vasopressin. The consequences are severe polyuria and polydipsia, often associated with hypertonic dehydration. Intracerebral calcification, seizures, psychosomatic retardation, hydronephrosis, and hydroureters are its sequelae. In this study, four children with NDI were treated with 3 mg/kg/day hydrochlorothiazide and 0.3 mg/kg/day amiloride orally three times a day for up to five years. While undergoing treatment, none of the patients had signs of dehydration or electrolyte imbalance, all showed normal body growth, and there was no evidence of cerebral calcification or seizures. All but one had normal psychomotor development and normal sonography of the urinary tract. However, normal fluid balance was not attainable (fluid intake, 3.8-7.7 l/m2/day; urine output, 2.2-7.4 l/m2/day). The treatment was well tolerated and no side effects could be detected. Prolonged treatment with hydrochlorothiazide/amiloride appears to be more effective and better tolerated than just hydrochlorothiazide. Its efficacy appears to be similar to that of hydrochlorothiazide/indomethacin but without their severe side effects.
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PMID:Treatment of nephrogenic diabetes insipidus with hydrochlorothiazide and amiloride. 1033 5

Fourteen children (of Arab ethnic origin) with Sotos syndrome are described. They were referred to King Khalid University Hospital, Riyadh between July 1992 and June 1997. Their phenotypic characteristics were compared with established diagnostic criteria. There was a male:female ratio of 1.3:1 and a high rate of consanguinity (36%) among parents. At birth, 54% were large and about one-third showed increased height and occipitofrontal head circumference (OFHC). The neonatal histories revealed respiratory and feeding problems in 21%, followed later by delayed motor milestones and speech development in 57%. During childhood, weight, height and OFHC increased further to > 97th centile in 71%, 71% and 93%, respectively. A seizure disorder affected 43%, and 75% had mental retardation (IQ < 70). A non-specific EEG abnormality was found in half of those with seizures. Cranial CT/MRI showed ventricular dilatation in 15% and one patient had corpus callosum dysgenesis. Abdominal ultrasound revealed hydronephrosis in two patients. Radiological cephalometric measurements showed relative prognathism in cases of Sotos syndrome compared with controls (p = 0.003). The study highlights the importance of considering Sotos syndrome in children who present with psychomotor delay.
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PMID:Sotos syndrome (cerebral gigantism): a clinical and radiological study of 14 cases from Saudi Arabia. 1069 Feb 61

In 1947 the term phakomatosis pigmentovascularis (PPV) was coined to represent the association of widespread, aberrant, and persistent nevus flammeus and pigmentary abnormalities. Four types of PPV have been recognized with type II (nevus flammeus and Mongolian spots) being the most common. Most early cases were of Asian or African descent. Many cases were subsequently associated with Sturge-Weber (S-W) and Klippel-Trenaunay (K-T) syndromes. Almost no literature reports have appeared in the genetic or dysmorphology literature! We present six cases of PPV in which five were either African, Asian or Hispanic, and five of six had an admixture of K-T and S-W. Four had macrocephaly, and one had microcephaly. Four had CNS abnormalities (three with hydrocephalus, one with Arnold-Chiari and one with polymicrogyria), three had mental retardation, and one had seizures. One each had thumb hypoplasia, hydronephrosis, glaucoma, coronal synostosis, and 3-4 finger syndactyly. It is our suspicion and hypothesis that in the presence of persistent, extensive and aberrant Mongolian spots, vascular abnormalities as are seen in K-T and S-W carry a worse prognosis. This may be particularly true either of children of Asian, Hispanic or African heritage or any individuals from darker pigmented skin groups.
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PMID:Phakomatosis pigmentovascularis: Implications for severity with special reference to Mongolian spots associated with Sturge-Weber and Klippel-Trenaunay syndromes. 1793 34


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