1/15. An endocrinopathy characterized by dysfunction of the pituitary-adrenal axis and alopecia universalis: supporting the entity of a triple H syndrome.We demonstrate the rare disorder of triple H syndrome in a 25-year-old man. He was pointed out as having short stature, at -5.9 s.d., and diagnosed as GH deficient at 6 years old. Approximately a year ago, he noticed systematic hair loss. He lost body weight by 7 kg during the last half year. He was admitted to Jichi Medical School Hospital because of unconsciousness. Physical findings showed disturbance of consciousness with japan coma Scale I-3. He had emaciation and alopecia universalis. Laboratory findings showed plasma glucose was as low as 1.11 mmol/l. GH and ACTH deficiency with hypoadrenocorticism were clarified. His intelligence was in the low normal range with a WAIS IQ of 70, and anterograde amnesia was suggested in the presence of a little, but not significant, morphological change in the hippocampus on a magnetic resonance imaging scan. Replacement by a physiological dose of hydrocortisone normalized plasma glucose, and restored body weight and growth of hair during the 7 month therapeutic period. The present finding strongly supports a clinical entity of triple H syndrome, including ACTH deficiency, alopecia universalis and anterograde amnesia, and that there may be some variation of the triad among the subjects.- - - - - - - - - - ranking = 1keywords = emaciation (Clic here for more details about this article) |
2/15. Diencephalic syndrome of emaciation in an adult associated with a third ventricle intrinsic craniopharyngioma: case report.OBJECTIVE AND IMPORTANCE: Diencephalic syndrome of emaciation (DS) is seen almost exclusively in infants and young children, and only two cases of DS in adults have been reported previously. We describe a case of DS associated with a third ventricle intrinsic craniopharyngioma in an adult patient. CLINICAL PRESENTATION: A 54-year-old man presented with profound emaciation, disorientation, memory loss, and psychological disorders. Computed tomographic scanning and magnetic resonance imaging of his brain disclosed a tumor within the third ventricle. The preoperative endocrinological examination indicated an elevated growth hormone level and a decreased somatomedin C level. INTERVENTION: The patient underwent partial resection of the tumor, which was adherent to the floor of the third ventricle but not to the ventricle wall, by an interhemispheric-transcallosal approach. The histological examination revealed a squamous papillary-type craniopharyngioma. The patient received 50 Gy of radiotherapy, which resulted in 90 to 95% reduction of the tumor size within 6 months, as indicated by the magnetic resonance images presented. The psychological disorders, memory disturbance, and severe emaciation improved gradually thereafter. CONCLUSION: Although extremely rare, DS can occur in an adult harboring a tumor in the anterior hypothalamus.- - - - - - - - - - ranking = 7keywords = emaciation (Clic here for more details about this article) |
3/15. Disseminated pilocytic astrocytoma involving brain stem and diencephalon: a history of atypical eating disorder and diagnostic delay.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.- - - - - - - - - - ranking = 3keywords = emaciation (Clic here for more details about this article) |
4/15. Diencephalic syndrome due to hypothalamic tumor: a model of the relationship between weight and puberty onset.CONTEXT: Changes in body weight, statural growth rate, and puberty may be the presenting symptoms of hypothalamic-pituitary tumors. OBJECTIVE: The objective of the study was to assess the relationship between the tumor and its treatment and the weight, growth rate, and onset of puberty, using the diencephalic syndrome of emaciation as model. patients: Eleven patients seen before 1 yr of age, except one aged 9 yr, for diencephalic syndrome of emaciation due to hypothalamic pilocytic astrocytoma, were treated by surgical resection (n = 9), cranial irradiation (n = 7), and/or chemotherapy (n = 10). RESULTS: At diagnosis, growth rate was normal, despite the emaciation, and there was no hypothalamic-pituitary deficiency, except in the oldest patient. After tumor treatment, all had GH and thyroid-stimulating hormone deficiencies, but only three, who underwent major surgical resection, also had ACTH deficiency and diabetes insipidus. Eight became obese, and all but the oldest had transient precocious puberty. plasma leptin concentrations were very low at diagnosis, increased after tumor treatment, and decreased transiently in one boy when the testosterone increased. The plasma soluble leptin receptor concentrations changed in the opposite direction, leading to an increase in the free leptin index, including in the three patients whose tumor was reduced without surgery. The body mass index was correlated positively with plasma leptin (rho = 0.73, P = 0.0004) and free leptin index (rho = 0.63, P < 0.004) and negatively with ghrelin (rho = -0.49, P < 0.03) concentrations. CONCLUSIONS: The obesity that occurs after treatment of hypothalamic tumors is not due to dysregulation of leptin secretion because it and plasma soluble leptin receptor remain regulated by factors like testosterone. This study also shows the influence of weight, possibly via leptin secretion, on the transient hypothalamic-pituitary-gonadal activation that occurs during the first year of life.- - - - - - - - - - ranking = 3keywords = emaciation (Clic here for more details about this article) |
5/15. Hypoglycaemia associated with anorexia nervosa.A 41 year old woman with severe emaciation due to longstanding anorexia nervosa presented with recurrent hypoglycaemia. During an episode of hypoglycaemia, serum insulin and C peptide were undetectable and plasma beta hydroxybutyrate, free fatty acids and lactate were inappropriately low. Response to intravenous glucagon was poor. Muscle enzymes were grossly elevated until she gained weight. Hypoglycaemia was abolished by weight gain.- - - - - - - - - - ranking = 1keywords = emaciation (Clic here for more details about this article) |
6/15. Diencephalic syndrome of emaciation in an adult associated with a suprasellar craniopharyngioma--a case report.An unusual association of diencephalic syndrome of emaciation, pituitary insufficiency for 2 years and suprasellar craniopharyngioma is described in a 45-year-old male. The tumour was found to be adherent to the anterior hypothalamic structures. Following partial excision, irradiation and hormonal replacement he regained his appetite, subcutaneous fat and body weight gradually.- - - - - - - - - - ranking = 5keywords = emaciation (Clic here for more details about this article) |
7/15. Atypical prader-willi syndrome with severe developmental delay and emaciation.A young boy showed features of prader-willi syndrome including hypotonia, cryptorchidism, a mildly dysmorphic facial appearance, a high-arched palate and an open triangular-shaped mouth, but had additional symptoms such as simian creases and multiple joint ankylosis in early infancy. Deletion of the long arm of chromosome 15(q11.2 to q13) was recognized. A muscle biopsy specimen showed variation in fiber size with hypertrophic type 1 fibers, type 2 fiber smallness, type 2B fiber paucity and an increased number of type 2C fibers. At the age of 4 1/2 years, he still showed severe developmental delay with severe muscle hypotonia, weakness and emaciation.- - - - - - - - - - ranking = 5keywords = emaciation (Clic here for more details about this article) |
8/15. Infantile neuroaxonal dystrophy: perinatal onset with symptoms of diencephalic syndrome.In a neonatal case of infantile neuroaxonal dystrophy, there was emaciation, nystagmus, and endocrinologic disorder suggesting the diencephalic syndrome. At autopsy, spheroid bodies were widely disseminated, particularly in the hypothalamus, infundibulum, and neurohypophysis. The pathologic process may have started in utero.- - - - - - - - - - ranking = 1keywords = emaciation (Clic here for more details about this article) |
9/15. Diencephalic syndrome of emaciation (Russell's syndrome). Long-term survival.Three cases of diencephalic syndrome are reported. Two of them, which have been observed postoperatively for more than 7 years, showed typical clinical and endocrinologic features at the time of their first admission, but showed mass signs uncharacteristic of diencephalic syndrome after recurrence of the tumor. Recent data showed a normal baseline for plasma growth hormone but abnormalities in provocation tests. The significance of age in the manifestation of the syndrome is briefly discussed, especially in relation to the tendency toward normalization in the growth hormone level at a later age.- - - - - - - - - - ranking = 4keywords = emaciation (Clic here for more details about this article) |
10/15. A syndrome with nodular erythema, elongated and thickened fingers, and emaciation.A 5-year-old boy had a nodular erythema, elongated and thickened fingers, and emaciation. His condition was a rare congenital disease inherited as an autosomal recessive trait. Eleven cases have been previously reported in the Japanese literature. The onset is early in childhood, and nodular erythema is an essential and initial finding. Growth retardation and emaciation progress slowly with age. The characteristic clinical features include large eyes, nose, lips, and ears, disproportionately long and thick fingers, and the loss of adipose tissue from the upper half of the body. cardiomegaly and hypertrophy of the periosteum of the phalanges have been described in some cases.- - - - - - - - - - ranking = 6keywords = emaciation (Clic here for more details about this article) |
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