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)

A diencephalic astrocytoma was diagnosed by ultrasonography in a 5 months old girl with nystagmus and emaciation. A 27 months follow-up with ultrasonography, computed tomography and magnetic resonance imaging, showed an initial improvement after irradiation and afterwards the development of complications with ventricular dilatation and parenchymal calcifications.
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PMID:[Diagnosis and follow-up of Russel's diencephalic cachexia by echography, x-ray computed tomography and nuclear magnetic resonance]. 333 Jan 95

Three cases of diencephalic syndrome, associated with brain tumors, are reported in this paper. Case 1. A 2-2/12-year old boy was initially admitted to our hospital because of failure to thrive which began at the age of three months. Physical examination revealed emaciation (weight, 7.8 kg), irritability and pallor without anemia. Horizontal nystagmus was seen. Laboratory studies were normal except for abnormally high plasma growth hormone (p-GH) which was incompletely suppressed by hyperglycemia (induced by glucose) and was not elevated by hypoglycemia (induced by insulin). A low grade astrocytoma of the optic nerve compression the hypothalamus was partially removed. After the operation followed by irradiation, p-GH returned to normal both in its basal level and in its reaction to insulin loading, then his gain of weight was accelerated. He was readmitted, however, at the age of 6 8/12 years with headache and vomiting. Since subtotal removal of the recurrent tumor and irradiation, preoperative symptoms have disappeared up to the present (7 9/12 years old). Case 2. A 3-9/12-year old girl was initially admitted because of failure to thrive since the age of 2 years. Examination on admission revealed emaciation (10.5 kg), irritability and right hemiparesis. Laboratory studies were normal except for high serum cholesterol (290 mg/dl). (p-HG was not measured) The patient had been well after the subtotal removal of the hypothalamic astrocytoma except occasional headache until the age of 6 years. She was readmitted at the age of 9 years with progressive emaciation.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Diencephalic syndrome--report of three cases]. 671 44

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

Two cases of the diencephalic syndrome were reported with hormonal studies. The first case was initially admitted at her age of 4 years and 10 months old. Progressive visual disturbance and horizontal nystagmus had developed one year prior to the admission. Her weight gain had stopped since 10 months old. Partial removal of the hypothalamic pilocytic astrocytoma and 5,000 rad of lineac radiotherapy brought satisfactory effects on her previous symptoms. She was readmitted, however, at her age of 8 years and 10 monts old because of precocious puberty. Her breast development was in Tanner's grade 2, and her bone maturation was equivalent to one of 11 years old. Hormonal studies showed decreased urine 17-OHCS and 17-KS, elevated serum LH, E1 and E2. The CT scan disclosed some enhanced area in the vicinity of the optic chiasm, which had not changed for the last one year. The second case was admitted at his age of 10 years and 9 months old because of progressive marked emaciation of 6 months' duration. Parinaud's sign was only positive neurological finding. The CT verified enhanced areas in the pineal and chiasm. Cytological study of CSF gave the diagnosis of germinoma. Hormonal studies showed decreased urine 17-OHCS and 17-KS, decreased T3, T4, ACTH, and increased PRL as well as increased HGH. Local lineac irradiation by 5,500 rads was given, during which the enhanced area in CT disappeared and his weight gain started. Increased HGH became normalized but paradoxical response of HGH to GTT remained same.
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PMID:[Two cases of the diencephalic syndrome were reported with hormonal studies (author's transl)]. 724 42

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

The association of weight loss and pediatric brain tumors that affect the diencephalon or brain stem with weight loss is a recognized, but not fully understood phenomenon. Tumors located in the hypothalamic region may induce the diencephalic syndrome (DS), which is characterized by profound emaciation with almost complete loss of subcutaneous fatty tissue. Tumors that compress or infiltrate the brain stem rarely cause both psychological disturbance and emaciation. The clinical presentation may be different, depending on the location of the lesion and age of the patient. In this report we present an unusual case of severe emaciation in a 4(9)/(12)-year-old girl with a juvenile pilocytic astrocytoma of the hypothalamic region and brain stem with neuroaxis dissemination. This case illustrates the importance of considering intracranial mass-lesions in the differential diagnosis of weight loss, psychological disturbance and atypical eating disorder. We discuss the importance of tumor multifocality and the role of patient age in the clinical presentation with reference to the literature.
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PMID:Disseminated pilocytic astrocytoma involving brain stem and diencephalon: a history of atypical eating disorder and diagnostic delay. 1659 21

Timely diagnosis of diencephalic syndrome is not often the case for patients presenting with failure to thrive (FTT) because of its rarity and lack of specific symptoms. Herein, we report two cases of diencephalic syndrome (2-year-old girl and 10-month-old boy) presenting with severe emaciation. Both patients had histories of poor weight gain for months despite having good appetites prior to diagnosis. Initial work-up did not reveal the diagnosis. Horizontal nystagmus was noted in both patients: by a neurologist in the first patient and by a family member in the second patient. MRI of the brain showed large suprasellar mass and pilocytic astrocytoma was confirmed by pathology in each case. The patients were started on appropriate chemotherapy with interval improvements in weight gain. These cases illustrate the importance of cranial imaging and consideration of diencephalic syndrome for children presenting with FTT despite normal or increased caloric intake.
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PMID:Diencephalic syndrome: a rare cause of failure to thrive. 2868 92


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