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

Incompletely and even adequately clipped berry aneurysms are often reinforced with finely shredded gauze. In seven female patients this practice led to a series of events including headache, pyrexia, seizures, cranial nerve deficits, endocrinopathy, cerebrospinal fluid pleocytosis, and an enhancing mass demonstrated by computerized tomography at the aneurysm site. One patient with blindness, hydrocephalus, and panhypopituitarism died and was examined at autopsy. Three additional female patients have been identified in the literature with similar case histories. It is suggested that in these patients the gauze induced a foreign-body granuloma, accompanied by progressive occlusion of neighboring small arteries. It would seem prudent to reserve gauze reinforcement for aneurysms that cannot be securely obliterated surgically.
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PMID:Gauze-induced granuloma ("gauzoma"): an uncommon complication of gauze reinforcement of berry aneurysms. 199 26

A boy with neonatal hypoglycemia, genital hypoplasia and frontal prominence ahd recurrence of hypoglycemic seizures at age 17 months. There was no plasma growth hormone (GH) response to sleep, arginine, hypoglycemia or glucagon. Mild secondary hypothroidism and primary hypogonadism were demonstrated. Small dose testosterone therapy for three months resulted in normal penile size; weekly injections of GH accelerated linear growth to a normal pace. Whether this complex represents a true syndrome or part of the spectrum of panhypopituitarism remains to be answered.
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PMID:Growth hormone deficiency with hypoglycemia, genital hypoplasia and frontal prominence. 447 Aug 95

A 32-year-old woman had seizures and coma due to severe hypoglycemia (26 mg/dL) in the 32nd week of an otherwise uncomplicated pregnancy. She responded dramatically to the administration of cortisol. Initial endocrine evaluation disclosed prolactin (PRL), corticotropin, and thyrotropin (TSH) deficiencies. The patient recovered completely with cortisol and thyroid hormone therapy and was delivered of a healthy male child at term. Endocrine reevaluations one week and six months postpartum disclosed luteinizing hormone, follicle-stimulating hormone, growth hormone, PRL, corticotropin, and probable TSH deficiencies. The cause of this panhypopituitarism has not been determined. This case suggests that the appropriate initial treatment for spontaneous symptomatic hypoglycemia in pregnancy, while awaiting further endocrine evaluation, is the administration of cortisol.
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PMID:Spontaneous hypoglycemic seizures in pregnancy. A manifestation of panhypopituitarism. 669 58

High resolution cytogenetics, microsatellite marker analyses, and fluorescence in situ hybridization were used to define Xq deletions encompassing the fragile X gene, FMR1, detected in individuals from two unrelated families. In Family 1, a 19-year-old male had facial features consistent with fragile X syndrome; however, his profound mental and growth retardation, small testes, and lover limb skeletal defects and contractures demonstrated a more severe phenotype, suggestive of a contiguous gene syndrome. A cytogenetic deletion including Xq26.3-q27.3 was observed in the proband, his phenotypically normal mother, and his learning-disabled non-dysmorphic sister. Methylation analyses at the FMR1 and androgen receptor loci indicated that the deleted X was inactive in > 95% of his mother's white blood cells and 80-85% of the sister's leukocytes. The proximal breakpoint for the deletion was approximately 10 Mb centromeric to FMR1, and the distal breakpoint mapped 1 Mb distal to FMR1. This deletion, encompassing approximately 13 Mb of DNA, is the largest deletion including FMR1 reported to date. In the second family, a slightly smaller deletion was detected. A female with moderate to severe mental retardation, seizures, and hypothyroidism, had a de novo cytogenetic deletion extending from Xq26.3 to q27.3, which removed approximately 12 Mb of DNA around the FMR1 gene. Cytogenetic, and molecular data revealed that approximately 50% of her white blood cells contained an active deleted X. These findings indicate that males with deletions including Xq26.3-q27.3 may exhibit a more severe phenotype than typical fragile X males, and females with similar deletions may have an abnormal phenotype if the deleted X remains active in a significant proportion of the cells. Thus, important genes for intellectual and neurological development, in addition to FMR1, may reside in Xq26.3-q27.3. One candidate gene in this region, SOX3, is thought to be involved in neuronal development and its loss may partly explain the more severe phenotypes of our patients.
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PMID:Deletions in Xq26.3-q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern. 925 60

Virusencephalitis is characterised by clinical symptoms of a parenchymatous inflammation. In addition, early mental status changes often occur as a result of virusencephalitis, beside focal neurological deficiencies, epileptic seizures, cerebral compression, even coma. Other pathological manifestations of virusencephalitis are disturbances of the neurohumoral and the endocrine system, which are often recognised and treated too late. This case report describes symptoms, treatment, and complications of a 76 year old female in-patient, who was diagnosed with virusencephalitis. The number of lymphocytes in the cerebrospinal fluid was increased to 30 cells per microliter, liquor albumin was 1705 mg/l, liquor sugar was 53 mg/dl and liquor lactat was 1.9 mmol/l. IgM antibodies against herpes viruses were found in the cerebrospinal fluid and distinct contrasting foci were found near the mammillary bodies, hypothalamus, tractus opticus, hypophyseal stalk and right parahippocampal in the magnetic resonance imaging of the head, indicating a focal herpes simplex encephalitis. Within seven days, the following symptoms developed: akinetic parkinsonian syndrome, central diabetes insipidus with hypernatremia and polyuria (6 l/die), hypothyreosis, adrenal insufficiency with adynamia, sopor, hypotension and even hypophyseal coma. Panhypopituitarism was diagnosed after measuring the basal hormone levels (ACTH, TSH, FT3, FT4, Cortisol, Prolactin, LH, FSH, ADH) and conducting the pituitary stimulation test. The severeness of all symptoms was slightly improved after substitution with antidiuretic hormone at 0.4 microgram/die and administration of hydrocortisone at 50 mg/die. Administration of amantadine sulphate at 0.6 g/die and L-dopa at 187.5 mg/die for 14 days resulted in a complete regression of the parkinsonism. After administration of aciclovir at 2.25 g/die for 21 days a complete regression of the clinical symptoms could be reached in connection with a decrease of 90% in number and size of cerebral contrasting foci in the magnetic resonance imaging of the head. Three month after therapy, clinical examination and blood serum analysis revealed persistent panhypopituitarism. The present case report is the first description of a viral infection on of the central nervous system (CNS) in combination with parkinsonism, diabetes insipidus, persistent panhypopituitarism and hyperprolactinemia. Early treatment of viral infections of the brain can improve a patient's prognosis dramatically. Early determination and early treatment of a patient's neurohumoral parameters is therefore critical to prevent or reverse early mental status changes like attention disturbances, alterations of personality and behavior, apathy, and slowed cognition.
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PMID:[Virus encephalitis with symptomatic Parkinson syndrome, diabetes insipidus and panhypopituitarism]. 1059 69

Childhood panhypopituitarism may be acquired or congenital. Children with panhypopituitarism can present clinically with diabetes, growth failure, decreased bone density, and morbid obesity. In the forensic setting without the proper history, it can be misdiagnosed as child abuse or neglect. We report a case of a 3-year-old black girl who was admitted to the emergency room with apnea and subsequently died. While at the emergency department, it was discovered that the child had a fractured left hip and was severely growth retarded for age. The coroner wanted to rule out child abuse and/or neglect and requested an autopsy based on the physical findings identified by hospital staff. Significant findings at autopsy included small for age (15th percentile for age), hypoplastic brain/pituitary gland/adrenal gland/thyroid gland, abnormally formed skull with an occipital protuberance, a fractured left hip with decreased bone density, and central adiposity. Subsequent to the autopsy, it was discovered that at 6 weeks of age the child suffered from group B streptococci meningitis that resulted in panhypopituitarism. The panhypopituitarism then resulted in seizure activity, diabetes insipidus, and growth retardation. The authors hope this case report and review of the literature will assist investigators, pathologists, and clinicians in making a distinction between neglect or inflicted injury of child abuse and panhypopituitarism that can present with similar signs and symptoms.
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PMID:Childhood panhypopituitarism presenting as child abuse: a case report and review of the literature. 1532 73

The authors report the case of a 12-year-old girl with Pallister-Hall syndrome, long-standing refractory, symptomatic epilepsy, mental retardation, and panhypopituitarism in whom two rare, deep midline lesions were detected. She underwent successful transsphenoidal resection of the Rathke cleft cyst and transcallosal resection of the hypothalamic hamartoma within a 4-day period without complications. Neuropathological studies confirmed the neuroimaging diagnoses for the two lesions. The patient has been seizure free for 6 months postoperatively.
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PMID:Successful resection of a hypothalamic hamartoma and a Rathke cleft cyst. Case report. 1620 38

Hypoglycemia in infants and children can lead to seizures, developmental delay, and permanent brain damage. Hyperinsulinism (HI) is the most common cause of both transient and permanent disorders of hypoglycemia. HI is characterized by dysregulated insulin secretion, which results in persistent mild to severe hypoglycemia. The various forms of HI represent a group of clinically, genetically, and morphologically heterogeneous disorders. Congenital hyperinsulinism is associated with mutations of SUR-1 and Kir6.2, glucokinase, glutamate dehydrogenase, short-chain 3-hydroxyacyl-CoA dehydrogenase, and ectopic expression on beta-cell plasma membrane of SLC16A1. Hyperinsulinism can be associated with perinatal stress such as birth asphyxia, maternal toxemia, prematurity, or intrauterine growth retardation, resulting in prolonged neonatal hypoglycemia. Mimickers of hyperinsulinism include neonatal panhypopituitarism, drug-induced hypoglycemia, insulinoma, antiinsulin and insulin-receptor stimulating antibodies, Beckwith-Wiedemann Syndrome, and congenital disorders of glycosylation. Laboratory testing for hyperinsulinism may include quantification of blood glucose, plasma insulin, plasma beta-hydroxybutyrate, plasma fatty acids, plasma ammonia, plasma acylcarnitine profile, and urine organic acids. Genetic testing is available through commercial laboratories for genes known to be associated with hyperinsulinism. Acute insulin response (AIR) tests are useful in phenotypic characterization. Imaging and histologic tools are also available for diagnosing and classifying hyperinsulinism. The goal of treatment in infants with hyperinsulinism is to prevent brain damage from hypoglycemia by maintaining plasma glucose levels above 700 mg/L (70 mg/dL) through pharmacologic or surgical therapy. The management of hyperinsulinism requires a multidisciplinary approach that includes pediatric endocrinologists, radiologists, surgeons, and pathologists who are trained in diagnosing, identifying, and treating hyperinsulinism.
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PMID:[Hyperinsulinism in infancy and childhood: when an insulin level is not always enough]. 1815 85

Ten year survival rates for patients with craniopharyngioma vary from 24 to 100%. A review of the database of all children diagnosed with craniopharyngioma in British Columbia (BC) revealed that several patients died >10 years after diagnosis. This retrospective study investigates the causes and timing of deaths and reports the overall survival in this population based group of patients. A chart review was conducted on all patients aged <17 years, diagnosed in BC with craniopharyngioma between 1967 and 2003. Imaging studies were reviewed by a neuroradiologist. All deaths in the province are reported to a central agency, which allowed identification of patients who died after being lost to clinical follow up. Forty-one patients were identified with nine deaths (aged 11.9-36.9 years). The four patients who died more than 10 years after diagnosis represent 23% of the 17 patients followed for more than 10 years. Three died more than 20 years after diagnosis. The known causes of death were progressive disease (1), uncontrolled diabetes insipidus (1), panhypopituitarism with multi-organ failure (1), pontine infarction (1) and middle cerebral artery infarction in a patient with Moyamoya disease secondary to radiotherapy (1). Two deaths appeared to be seizure related and 1 occurred after orthopedic surgery and remains unexplained. One patient died due to liver failure of unknown etiology. The 10 year overall survival (OS) was 84.1% (95% CI 71.2, 97.1) and the 20 year OS 76.5% (95% CI 58.1, 94.9). Patients remain at risk of premature death more than 10 years after diagnosis. The cause specific late mortality was multifactorial but was rarely due to disease progression. New approaches to craniopharyngioma treatment and life long follow up of cases are required.
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PMID:Late mortality in pediatric patients with craniopharyngioma. 2020 58

Pallister-Hall syndrome (PHS) is a very rare syndrome characterized by hypothalamic hamartoma (HH), polydactyly, panhypopituitarism, imperforate anus and other visceral anomalies. Contrary to patients with isolated HH, neurological dysfunction and precocious puberty are uncommon and seizures are usually well controlled with anticonvulsant medication. Therefore, conservative management of HH is advised. To the best of our knowledge, seven cases of PHS with surgical resection of the HH have so far been reported. Five patients were either seizure-free or had >90% seizure reduction postoperatively. Here, we present a case of PHS of a patient who also underwent transcallosal endoscopic resection of the HH with a subsequent 70% reduction in seizure frequency.
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PMID:Transcallosal endoscopic resection of hypothalamic hamartoma in a case with Pallister-Hall syndrome. 2163 48


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