Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013911 (emaciation)
 1,059 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Diencephalic syndrome of emaciation (Russell's syndrome) characteristically presents with the symptoms of marked emaciation in spite of normal linear growth and marked increased of serum growth hormone in infancy and early childhood. It is usually caused by a low-grade glioma, most often an astrocytoma, of the anterior third ventricle including the optic nerve and chiasm. Usually it is not associated with von Recklinghausen's neurofibromatosis. We describe two unusual cases of diencephalic syndrome; one case was caused by a low-grade astrocytoma involving the anterior third ventricle associated with neurofibromatosis, and the other by a malignant astrocytoma of the anterior third ventricle.
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PMID:Diencephalic syndrome of emaciation (Russell's syndrome). 680 75

We report the case of a twenty-three month old, normally eating child, affected by organic macies and severe dystrophy. After the negative response of blood and laboratory examinations let us exclude a malabsorption syndrome, only the performance of neuro-radiologic exams showed evidence of a subthalamic tumor as the cause of a "Diencephalic syndrome". Diencephalic syndrome or Russel's syndrome is a diencephalic tumor induced disease, which sets in the first three years of life. The disease clinical markers are a severe emaciation with appetite preservation and absence or very scarce evidence of any telltale neurological sign. the tumoral histo-pathology most frequently shows a low grade of malignancy astrocytoma, whose eradication is very often difficult because of the particular anatomic site. Choice treatment includes an excisional biopsy associated to chemotherapy and to radiotherapy.
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PMID:[Diencephalic syndrome. Case report and review of literature]. 830 25

Diencephalic syndrome (DS) is a complex of signs and symptoms related to hypothalamic dysfunction. Its main features are emaciation despite normal energy intake and an alert appearance. This syndrome has been described in association with space-occupying lesions of the hypothalamic-optic chiasm region, mainly low-grade glioma, and less often with tumors in the proximity of the IV ventricle. Two patients with DS are reported. The first patient was an 8-month old boy with classical features of DS. Extensive investigation of malabsorption revealed no abnormalities and the first neurologic sign was a rotatory nystagmus. Magnetic resonance imaging (MRI) showed evidence of a hypothalamic tumor, which was identified after surgical resection as a pilocytic astrocytoma. The second patient was an adolescent boy who presented a 20-kg weight loss over a 6-month period and psychological disturbances. Gastrointestinal disease was ruled out as a cause of malnutrition. Because of a polydipsia-polyuria syndrome, manifest while the patient was hospitalized with a suspected diagnosis of anorexia nervosa, MRI of the brain was performed. Multiple intracranial lesions were revealed, mainly in the hypothalamus, and were identified as a disseminated disgerminoma. No neurologic signs or symptoms were present. The patients died 2 years and 1 year after diagnosis, respectively. Although DS is rare, it should be considered in severe failure to thrive or emaciation despite adequate food intake and normal absorptive function of the small bowel.
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PMID:[Diencephalic syndrome: An uncommon cause of malnutrition]. 1204 23

We report a rare case of pilocytic astrocytoma and diencephalic syndrome occurring together in a 30-year-old woman with neurofibromatosis type 1 (NF-1). Diencephalic syndrome included emaciation and somnolence. Gadolinium-enhanced magnetic resonance imaging revealed a brain tumor in the optic chiasmal-hypothalamic region, which invaded the thalamus, brain stem and cerebellum. A biopsy specimen from the chiasmal tumor was compatible with pilocytic astrocytoma. Although she received radiation therapy, she died 22 months after the onset of the disease.
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PMID:[Pilocytic astrocytoma and diencephalic syndrome in an adult with neurofibromatosis type 1]. 1450 50

We report the case of a two years old, normally eating child, affected by organic macies and severe dystrophy. After the negative response of blood and laboratory examinations let us exclude a malabsorption syndrome, only the performance of neuro-radiologic exams showed evidence of a subthalamic tumor as the cause of a "Diencephalic syndrome". Diencephalic syndrome or Russell's syndrome is a diencephalic tumor induced disease, which sets in the first time of life. The disease clinical markers are a severe emaciation with appetite preservation and absence or very scarce evidence of any telltale neurological sign. The tumoral histo-pathology most frequently shows a low grade of malignancy astrocytoma, whose eradication is very often difficult because of particular anatomic site. Treatment of choice includes an excisional biopsy with chemotherapy and radiotherapy. We report a clinical case of long-term survival and review of the literature.
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PMID:[Russell's syndrome: a case of long-term survival and review of the literature]. 1556 Feb 87

Diencephalic syndrome is a rare but potentially lethal cause of failure to thrive in infants and young children. The diencephalic syndrome includes clinical characteristics of severe emaciation, normal linear growth, and normal or precocious intellectual development in association with central nervous system tumors. Our group initially described a series of 9 patients with diencephalic syndrome and found a reduced prevalence of emesis, hyperalertness, or hyperactivity compared with previous reports. Also, the tumors were found to be larger, occur at a younger age, and behave more aggressively than similarly located tumors without diencephalic syndrome. We have been able to extend our follow-up of the original patients, as well as describe 2 additional cases. Because the mechanism of the growth and endocrinologic findings in diencephalic syndrome has not been explained, we report on these patients in light of current research on hypothalamic factors that affect growth and weight. This study emphasizes diencephalic syndrome as a model for additional study of growth hormone resistance and metabolic regulation of adiposity.
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PMID:Diencephalic syndrome: a cause of failure to thrive and a model of partial growth hormone resistance. 1593 Feb 2

Diencephalic syndrome is a disorder characterized by severe emaciation during childhood. The rarity of the disorder coupled with nonspecific symptomology means that there is often a protracted diagnostic journey. Here, we report a child who was referred to a clinical genetics service for investigation of lipodystrophy and failure to thrive. A broad range of genetic differential diagnoses were considered and investigated before a mass lesion was identified in the hypothalamus, confirming diencephalic syndrome. In the context of this case, we consider the relevant differentials and appropriate workup of a child with lipodystrophy presenting to a genetics service. This report also highlights the importance of considering diencephalic syndrome in cases such as this.
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PMID:A case of diencephalic syndrome presenting with isolated lipodystrophy. 2999 70

Diencephalic syndrome is one of the rare causes of failure to thrive in infants and young children. It is caused by a tumour in diencephalon (thalamus and hypothalamus), characterised by profound emaciation with uniform loss of body weight despite normal or slightly decreased appetite, locomotor hyperactivity, euphoria and visual symptoms. Anaesthetic considerations due to decreased body fat include positioning to avoid pressure necrosis, measures to avoid hypothermia, proper drug dosing, treating electrolyte imbalances and delayed recovery. We report successful anaesthetic management of a child with diencephalic syndrome scheduled for an endoscopic biopsy of suprasellar space occupying lesion under general anaesthesia.
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PMID:Diencephalic syndrome: an anaesthetic challenge. 3128 70