Diencephalic Syndrome of Infantile Emaciation: Analysis of Literature and Report of Further 3 Cases

Addy, D P; Hudson, F. P.

doi:10.1136/adc.47.253.338

Cited by 46 publications

(39 citation statements)

References 19 publications

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“…Since then, several case studies have been reported with similar symptoms, a few with brain tumors located in the posterior fossa. 2,3 Nystagmus and vomiting were also noted in the majority of reported cases. [2][3][4][5] In 1976, a review of 72 cases by Burr 6 confirmed the clinical characteristics of diencephalic syndrome.…”

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Diencephalic Syndrome: A Cause of Failure to Thrive and a Model of Partial Growth Hormone Resistance

Fleischman¹,

Brue²,

Poussaint³

et al. 2005

Pediatrics

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ABSTRACT. 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 dien-

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confidence: 99%

“…2,3 Nystagmus and vomiting were also noted in the majority of reported cases. [2][3][4][5] In 1976, a review of 72 cases by Burr 6 confirmed the clinical characteristics of diencephalic syndrome. Subsequent literature has consisted of multiple case series and case reports of this syndrome.…”

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confidence: 99%

Diencephalic Syndrome: A Cause of Failure to Thrive and a Model of Partial Growth Hormone Resistance

Fleischman¹,

Brue²,

Poussaint³

et al. 2005

Pediatrics

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“…The location of these tumors deep in the midline limits surgery, and early patient age at presentation limits radiation therapy. 2,[11][12][13][14] Little is known about the mechanisms by which this tumor causes the characteristic emaciation. Drop et al 15 hypothesized that a lipolytic peptide, B-lipotropin, which is produced in excess by the tumor or secondary to invasion, could explain the decrease in subcutaneous tissue and excess hGH release.…”

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confidence: 99%

“…Accepted for publication Jul 10, 2013 Diencephalic syndrome, first described by Russell in 1951, 1 is characterized by severe emaciation despite normal appetite and preserved height/length curve, usually accompanied by other symptoms such as lethargy, vomiting, and nystagmus. 2,3 Low-grade astrocytomas located in the diencephalic region are often associated with this syndrome. 4 Despite the importance of diencephalic syndrome, little is known of its pathophysiology.…”

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The Role of Leptin in Diencephalic Syndrome

Velasco¹,

Clemente

Lorite

et al. 2014

Pediatrics

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Diencephalic syndrome is a rare condition associated with central nervous system tumors. The most common presentation is secondary failure to thrive with proper caloric intake and no statural impairment. Despite the importance of this syndrome, little is known of its pathophysiology. Some reports have documented changes in human growth hormone and insulin levels at the onset, whereas others have described endocrine disorders of hypothalamic insufficiency resulting from surgery of the tumor. It has been suggested that the hormonal changes described, such as increased human growth hormone and ghrelin or decreased insulin and leptin levels, are related to a patient’s BMI. These findings support the role of these 4 hormones as indicators of the patient’s nutritional status but not as mediators or potential therapeutic targets of the disease. We report the case of an infant who initially presented with tumor progression and, after chemotherapy, progressive weight gain and reduced tumor size. Because he presented no hormonal deficiencies or obesity after therapy, we were able to analyze his hormonal status uninfluenced by effects of metabolic treatment or excess weight. Although ghrelin and leptin levels have been related to nutritional status, our patient’s leptin levels fell when tumor size decreased and weight increased: an extraordinary finding because leptin concentration is expected to increase with weight gain. This paradoxical response suggests that leptin may be dysregulated in diencephalic syndrome or that the diencephalic astrocytoma may have had an effect on leptin secretion.

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“…A nossa paciente apresentou as primeiras manifestações da síndrome aos 3 meses de idade, quando parou de ganhar peso, como é observado em cerca de 92% dos casos que, segundo Addy «Sc Hudson, apresentam as manifestações iniciais nos primeiros 12 meses de vida 1 . Existe, no entanto, um relato na literatura, de aparecimento tardio, aos 10 anos 8 .…”

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Russel's syndrome: a case with precocious puberty development

Castro

Silva

Perpétuo

1987

Arq. Neuro-Psiquiatr.

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A síndrome de emaciação diencefálica na infância foi relatada pela primeira vez por Goebel em 1932 e melhor sistematizada por Russel, em 1951, com a descrição de 5 casos, passando a ser reconhecida por seu nome 28 , As principais características clínicas da síndrome são a emaciação, a euforia e a hiperatividade da criança, decorrentes de processo expansivo hipotalâmico 9,10,25,31,32 .Nosso propósito é apresentar o acompanhamento de uma criança com a síndrome, com desenvolvimento de puberdade precoce, raramente citada na literatura.

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Diencephalic Syndrome of Infantile Emaciation: Analysis of Literature and Report of Further 3 Cases

Cited by 46 publications

References 19 publications

Diencephalic Syndrome: A Cause of Failure to Thrive and a Model of Partial Growth Hormone Resistance

Diencephalic Syndrome: A Cause of Failure to Thrive and a Model of Partial Growth Hormone Resistance

The Role of Leptin in Diencephalic Syndrome

Russel's syndrome: a case with precocious puberty development

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