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Diencephalic Syndrome

Russell Syndrome

Diencephalic syndrome (DS) is a disorder of childhood that causes failure to thrive in the absence of malnutrition. In contrast, linear growth remains within normal ranges. DS is a result of several central nervous system (CNS) tumors.


Presentation

Diencephalic syndrome is a condition that affects children in the first years of life [1]. Its etiology lies in the presence of central nervous system (CNS) tumors. It has both major and minor features, the former being emaciation, failure to thrive, hyperkinesia, and euphoria. Minor features typically entail visual impairment, nystagmus, strabismus, hyperemesis, headache, pallor, and hypoglycemia [2]. Visual changes affect over half of children with DS.

There are several brain tumors that can cause DS, exemplified by astrocytoma of the hypothalamus and optic tract (most common), craniopharyngioma, suprasellar ependymoma, suprasellar germinoma, and hypothalamic spongioblastoma [3].

Because of the vague nature of symptoms, diagnosis is challenging and often delayed for several months, as other, more common causes of failure to thrive tend to be investigated initially. Furthermore, there is no clear understanding of how DS causes failure to thrive despite adequate caloric intake.

Another characteristic feature of DS is that affected children have a low weight for an age while maintaining normal linear growth [4]. Failure to thrive usually begins within the first year of life. Hydrocephalus is a common feature.

A few cases presenting in late childhood or adulthood have been reported. Gliomas associated with DS are more aggressive and have an earlier onset that their non-syndromic counterparts. DS may be associated with obesity, blindness, and mental impairment, although these are rare manifestations.

Hypophonia
  • Speech varied from hypophonia to normal; handwriting varied from legible script to gross scrawl. Psychological testing revealed poor learning and recall, with low performance scores. In 3 patients the predominant abnormality was in downward gaze.[ncbi.nlm.nih.gov]
Stridor
  • We report a 21-month-old girl with a cervicomedullary brainstem astrocytoma, who presented with isolated gross motor developmental delay, decreased growth velocity, and stridor.[ncbi.nlm.nih.gov]
Hypertension
  • Some of the symptoms of the diencephalic syndrome such as euphoria, irritability, skin pallor, and hypertension may be the result of catecholamine secretion.[ncbi.nlm.nih.gov]
  • The clinical picture of chronic congenital toxoplasmosis was presented by following severe organic psychoneurologic syndromes: encefalopathy, intracranial hypertension, diencefalic, mental retardation, epileptiform, hydrocephalic, in combination with[cnaa.md]
Confabulation
  • Each case began abruptly with hypersomnolent apathy followed by fluctuations from appropriate affect, full orientation, and alertness to labile mood, confabulation, and apathy.[ncbi.nlm.nih.gov]
Learning Difficulties
  • Long-term sequelae included pituitary and visual dysfunction, learning difficulties and paradoxical, inappropriate weight gain.[ncbi.nlm.nih.gov]
Apathy
  • Each case began abruptly with hypersomnolent apathy followed by fluctuations from appropriate affect, full orientation, and alertness to labile mood, confabulation, and apathy.[ncbi.nlm.nih.gov]

Workup

Despite advancements in radiological techniques and availability, diagnosis of diencephalic syndrome is still delayed as it is often not considered in the differential diagnosis for children with failure to thrive in the context of normal linear growth [1]. It is generally agreed that the emaciation is not due to an imbalance in energy input and expenditure [5] [6]. Imaging diagnostic modalities include:

  • X-rays: These are taken of the skull and optic foramina.
  • Magnetic resonance imaging (MRI): Imaging of both the cranium and the spine should be carried out, as metastases of the tumors are complications that often occur. MRI should be contrast enhanced [3].
  • Pneumoencephalography.

Non-radiological diagnostic tools include:

  • Ophthalmologic examination: This is necessary as the optic tract is frequently affected and visual abnormalities are part of the typical presentation of DS.
  • Cerebrospinal fluid analysis.
  • Measurement of growth hormone (GH) after glucose administration.
  • Measurement of hormones such as insulin, leptin, and ghrelin (growth hormone-releasing peptide). Insulin and leptin levels are likely low, in contrast to ghrelin levels, which are usually high.
  • Surgery: This is often not only done for therapeutic purposes, but for the confirmation of the disorder as well.

When the suspicion exists, imaging should be carried out even in the absence of neurological signs.

Testosterone Increased
  • Plasma leptin concentrations were very low at diagnosis, increased after tumor treatment, and decreased transiently in one boy when the testosterone increased.[ncbi.nlm.nih.gov]

Treatment

  • Plasma leptin concentrations were very low at diagnosis, increased after tumor treatment, and decreased transiently in one boy when the testosterone increased.[ncbi.nlm.nih.gov]
  • Treatment with aggressive surgery and/or radiotherapy is variably successful in controlling disease and may result in severe neurologic sequelae.[ncbi.nlm.nih.gov]
  • The most appropriate treatment protocol still needs to be determined.[ncbi.nlm.nih.gov]
  • Treatment options consist of surgical resection, radiation therapy (RT) and chemotherapy.[ncbi.nlm.nih.gov]
  • Such therapy could be utilized either in the event of recurrent tumor or as late consolidation after primary treatment with chemotherapy.[ncbi.nlm.nih.gov]

Prognosis

  • However, the presenting features can be variable, often resulting in delayed diagnosis, which may worsen prognosis.[ncbi.nlm.nih.gov]
  • […] histopathological features of this tumor with the aim of increasing awareness of this tumour amongst general histopathologists, to highlight the importance of its differentiation from pilocytic astrocytomas in view of its different behaviour, treatment and prognosis[ncbi.nlm.nih.gov]
  • We suggest that a nutritional support with chemotherapy given to high doses without radiotherapy could be an effective strategy for treatment of a poor-prognosis disease.[ncbi.nlm.nih.gov]
  • Prognosis: The biologic behavior is that of a slowly growing, indolent tumor in an eloquent CNS location. Some tumors remain stable for years while others may recur in the form of cystic fluid accumulation.[akidsbraintumorcure.org]

Etiology

  • This case broadens the etiologic differential diagnosis of diencephalic syndrome in addition to the traditional hypothalamic region tumor location.[ncbi.nlm.nih.gov]
  • Its etiology lies in the presence of central nervous system (CNS) tumors. It has both major and minor features, the former being emaciation, failure to thrive, hyperkinesia, and euphoria.[symptoma.com]
  • This emphasis on the topographic analysis of symptoms and signs is contrary to the prevailing clinical approach in which responsibility for therapy typically drives the clinician to arrive at an etiological diagnosis as rapidly as possible.[books.google.com]
  • . : Thalamic infarcts: Clinical syndromes, etiology and prognosis . Neurology, 38:837–848, 1988.[link.springer.com]
  • (Etiology) Diencephalic Syndrome is caused by a tumor located above the brainstem in the diencephalon region of the brain.[dovemed.com]

Epidemiology

  • The diagnosis of toxoplasmosis was based on well led anamnesis, epidemiological data and clinical manifestations completed by instrumental examinations.[cnaa.md]
Sex distribution
Age distribution

Pathophysiology

  • Despite the importance of this syndrome, little is known of its pathophysiology.[ncbi.nlm.nih.gov]
  • It brings together the pathophysiology of disease with detailed clinical guidance on diagnosis and management for the full range of childhood cancers, including aspects important in optimal supportive care.[books.google.com]
  • Pathophysiology of neoplastic cachexia. Nutr Hosp. 2006;3:4–9. Google Scholar Gropman AL, Packer RJ, Nicholson HS, Vezina LG, Jakacky R, Geyer R, et al.[bmccancer.biomedcentral.com]

Prevention

  • Continued surveillance is mandatory to prevent significant weight gain and support affected children with clinical sequelae.[ncbi.nlm.nih.gov]
  • It is often administered following radiation therapy to kill the remaining tumor cells How can Diencephalic Syndrome be Prevented? There are currently, no known definite preventative measures for Diencephalic Syndrome.[dovemed.com]
  • However, in several cases, enteral or parenteral nutrition may provide to children unable to feed the nutrients necessary to ensure proper growth, to correct or prevent malnutrition [ 22 ].[bmccancer.biomedcentral.com]
  • If you try that stand at the end of the bed from further away, maybe you could hold your penis about 1/2 or 2/3 of the way down so your hand helps preventing you from entering too far. 1 2 3 4 5 A male reader, anonymous , writes (7 August 2007): People[dearcupid.org]
  • Growth data were analyzed according to the Centers for Disease Control and Prevention 2000 standards using STAT GrowthCharts, Version 2.0 ( www.statcoder.com ) to calculate percentiles and SD scores (SDS).[doi.org]

References

Article

  1. Burr IM, Slonim AE, Danish RK, Gadoth N, Butler IJ. Diencephalic syndrome revisited. J Pediatr. 1976;88(3):439–444.
  2. Poussaint TY, Barnes PD, Nichols K, et al. Diencephalic syndrome: clinical features and imaging findings. AJNR Am J Neuroradiol. 1997;18(8):1499–1505.
  3. Orphanet. Diencephalic syndrome. Orphanet. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1672. Updated July, 2017. Accessed August 6, 2017.
  4. Kim A, Moon JS, Yang HR, Chang JY, Ko JS, Seo JK. Diencephalic syndrome: a frequently neglected cause of failure to thrive in infants. Korean J Pediatr. 2015;58(1):28-32.
  5. Pimstone BL, Sobel J, Meyer E, Eale D. Secretion of growth hormone in the diencephalic syndrome of childhood. J Pediatr. 1970;76(6):886–889.
  6. Fleischman A, Brue C, Poussaint TY, et al. Diencephalic syndrome: a cause of failure to thrive and a model of partial growth hormone resistance. Pediatrics. 2005;115(6):e742-748.

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Last updated: 2018-06-22 01:31