Diencephalic syndrome

The diencephalon, which is affected by diencaphalic syndome, consists of the thalamus, the subthalamus, the hypothalamus, and the epithalamus.

Diencephalic syndrome, diencephalic syndrome of emaciation or Russell's syndrome is a rare neurological disorder seen in infants and children and characterised by failure to thrive and severe emaciation despite normal or slightly decreased caloric intake, locomotor hyperactivity, and euphoria. Less commonly it may involve skin pallor without anaemia, hypoglycaemia, and hypotension.^[1] The syndrome is a rare but potentially fatal cause of failure to thrive in children. Failure to thrive presents on average at 7 months of age.^[1] Of note the syndrome is not associated with developmental delay.^[2] There may be associated hydrocephalus.

Diencephalic syndrome was first described by Russell in 1951.^[3] It is usually caused by a brain tumor such as a low-grade glioma or astrocytoma located in the hypothalamic-optic chiasmatic region.^[1] It is not yet understood how diencephalic syndrome causes the effects on appetite and metabolism which are seen, though inappropriately high growth hormone release has been proposed,^[4] as has excessive β-lipotropin secretion^[1] and overall increased metabolic demand.^[5] It is treated with nutritional optimisation while the underlying lesion is treated with chemotherapy, surgery or radiotherapy.

References

1 2 3 4 Kim A, Moon JS, Yang HR, Chang JY, Ko JS, Seo JK (Jan 2015). "Diencephalic syndrome: a frequently neglected cause of failure to thrive in infants". Korean J Pediatr 58 (1): 28–32. doi:10.3345/kjp.2015.58.1.28. PMID 25729396.
↑ Fleischman A1, Brue C, Poussaint TY, Kieran M, Pomeroy SL, Goumnerova L, Scott RM, Cohen LE (June 2005). "Diencephalic syndrome: a cause of failure to thrive and a model of partial growth hormone resistance". Pediatrics 115 (6): 724–6. doi:10.1542/peds.2004-2237. PMID 15930202.
↑ Russell A (1951). "A diencephalic syndrome of emaciation in infancy and childhood". Arch Dis Child 26: 274.
↑ Drop SL, Guyda HJ, Colle E (August 1980). "Inappropriate growth hormone release in the diencephalic syndrome of childhood: case report and 4 year endocrinological follow-up". Clin Endocrinol (Oxf) 13 (2): 181–7. doi:10.1111/j.1365-2265.1980.tb01040.x. PMID 7438472.
↑ Vlachopapadopoulou E, Tracey KJ, Capella M, Gilker C, Matthews DE (June 1993). "Increased energy expenditure in a patient with diencephalic syndrome". J Pediatr 112 (6): 922–4. doi:10.1016/s0022-3476(09)90021-x. PMID 8501572.

Pathology of the nervous system, primarily CNS (G04–G47, 323–349)

Inflammation

Brain	Encephalitis Viral encephalitis Herpesviral encephalitis Limbic encephalitis Encephalitis lethargica Cavernous sinus thrombosis Brain abscess Amoebic

Spinal cord	Myelitis: Poliomyelitis Demyelinating disease Transverse myelitis Tropical spastic paraparesis Epidural abscess

Both/either	Encephalomyelitis Acute disseminated Myalgic Meningoencephalitis

Brain/
encephalopathy

Degenerative

Extrapyramidal and movement disorders	Basal ganglia disease Parkinsonism PD Postencephalitic NMS PKAN Tauopathy PSP Striatonigral degeneration Hemiballismus HD OA Dyskinesia Dystonia Status dystonicus Spasmodic torticollis Meige's Blepharospasm Athetosis Chorea Choreoathetosis Myoclonus Myoclonic epilepsy Akathisia Tremor Essential tremor Intention tremor Restless legs Stiff person

Dementia	Tauopathy Alzheimer's Early-onset Primary progressive aphasia Frontotemporal dementia/Frontotemporal lobar degeneration Pick's Dementia with Lewy bodies Posterior cortical atrophy Vascular dementia

Mitochondrial disease	Leigh disease

Demyelinating

Episodic/
paroxysmal

Seizure/epilepsy	Focal Generalised Status epilepticus Myoclonic epilepsy

Headache	Migraine Familial hemiplegic Cluster Tension

Cerebrovascular	TIA Amaurosis fugax Transient global amnesia Acute aphasia Stroke MCA ACA PCA Foville's Millard–Gubler Lateral medullary Weber's Lacunar stroke

Sleep disorders	Insomnia Hypersomnia Sleep apnea Obstructive Ondine's curse Narcolepsy Cataplexy Kleine–Levin Circadian rhythm sleep disorder Advanced sleep phase disorder Delayed sleep phase disorder Non-24-hour sleep–wake disorder Jet lag

CSF

Other

Spinal cord/
myelopathy

Both/either

Degenerative

SA	Friedreich's ataxia Ataxia telangiectasia

MND	UMN only: Primary lateral sclerosis Pseudobulbar palsy Hereditary spastic paraplegia LMN only: Distal hereditary motor neuronopathies Spinal muscular atrophies SMA SMAX1 SMAX2 DSMA1 Congenital DSMA SMA-PCH SMA-LED SMA-PME Progressive muscular atrophy Progressive bulbar palsy Fazio–Londe Infantile progressive bulbar palsy both: Amyotrophic lateral sclerosis

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