Diencephalic syndrome

Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesia and euphoria, in the presence of hypothalamic tumors.



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Narrow down the case reports



Total: 51 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
5
(4.0%)
24366994
The role of leptin in diencephalic syndrome.
Velasco P, Clemente M, Lorite R, Ventura MC, Gros L, Sanchez de Toledo J, Gallego S.
Pediatrics. 2014;133(1):e263-6.
Failure to thrive
Astrocytoma Biological Markers Homo sapiens Hypothalamic Neoplasms Infant Male Syndrome
5
(4.0%)
23052462
Intermediate pilomyxoid astrocytoma and diencephalic syndrome: imaging findings.
Nakamura OK, Pinho Mda C, Odone Filho V, Rosemberg S.
Einstein (Sao Paulo). 2012;10(2):236-8.
Hyperactivity
Astrocytoma Biopsy Females Homo sapiens Hypothalamic Neoplasms Infant Magnetic Resonance Imaging
5
(4.0%)
19796316
Cachexia secondary to intracranial anaplastic (malignant) ependymoma in a boxer dog.
Borrelli A, Mattiazzi L, Capucchio MT, Biolatti C, Cagnasso A, Gianella P, D'Angelo A.
J Small Anim Pract. 2009;50(10):554-7.
Weight loss
Animals Brain Neoplasms Cachexia Canis familiaris Differential Diagnosis Dog Diseases Ependymoma Fatal Outcome Females
5
(4.0%)
19489055
Improvement of diencephalic syndrome after partial surgery of optic chiasm glioma.
Marec-Berard P, Szathmari A, Conter C, Mottolese C, Berlier P, Frappaz D.
Pediatr Blood Cancer. 2009;53(3):502-4.
Cachexia
Homo sapiens Hypothalamic Diseases Infant Male Optic Chiasms Optic Nerve Glioma
5
(4.0%)
17405074
Diencephalic syndrome: a frequently delayed diagnosis in failure to thrive.
Huber J, Sovinz P, Lackner H, Mokry M, Eder H, Urban C.
Klin Padiatr. 2007;219(2):91-4.
Failure to thrive
Antineoplastic Combined Chemotherapy Protocols Astrocytoma Chemotherapy, Adjuvant Child, Preschool Combined Modality Therapy Differential Diagnosis Failure to Thrive Females Follow-Up Studies Homo sapiens Hydrocephalus Hypothalamic Diseases Hypothalamic Neoplasms Infant Neoplasm, Residual Optic Chiasms Optic Nerve Neoplasms
5
(4.0%)
16621905
Diencephalic syndrome due to hypothalamic tumor: a model of the relationship between weight and puberty onset.
Brauner R, Trivin C, Zerah M, Souberbielle JC, Doz F, Kalifa C, Sainte-Rose C.
J Clin Endocrinol Metab. 2006;91(7):2467-73.
Diabetes insipidus
Antineoplastic Agents Astrocytoma Body Weight Child Diabetes Insipidus Emaciation Females Growth Homo sapiens Human Growth Hormone Hypothalamic Diseases Hypothalamic Neoplasms Infant Male Obesity Operative Surgical Procedures Precocious Puberty Puberty
5
(4.0%)
16598421
Disseminated pilocytic astrocytoma involving brain stem and diencephalon: a history of atypical eating disorder and diagnostic delay.
Distelmaier F, Janssen G, Mayatepek E, Schaper J, Gobel U, Rosenbaum T.
J Neurooncol. 2006;79(2):197-201.
Weight loss
Antineoplastic Combined Chemotherapy Protocols Astrocytoma Brain Neoplasms Brain Stem Child, Preschool Differential Diagnosis Emaciation Feeding and Eating Disorders Feeding and Eating Disorders of Childhood Females Homo sapiens Spinal Cord Neoplasms
5
(4.0%)
15560287
[Russell's syndrome: a case of long-term survival and review of the literature].
Amoroso L, Cacchione A, Valentini D, Foco M, Gonfiantini M, Cappelli C, Ceccarelli G.
Clin Ter. 2004;155(6):255-8.
Malabsorption
Antineoplastic Combined Chemotherapy Protocols Astrocytoma Brain Neoplasms Child, Preschool Homo sapiens Male Syndrome
5
(4.0%)
15471306
Diencephalic syndrome: a rare and easily overlooked cause of failure to thrive.
Dejkhamron P, Likasitwattankul S, Unachak K.
J Med Assoc Thai. 2004;87(8):984-7.
Papilledema
Astrocytoma Brain Neoplasms Child, Preschool Differential Diagnosis Failure to Thrive Homo sapiens Infant Male
5
(4.0%)
12762565
Clinics in diagnostic imaging (81). Hypothalamic glioma with diencephalic syndrome.
Visrutaratna P, Oranratanachai K.
Singapore Med J. 2003;44(1):45-50.
Malnutrition
Differential Diagnosis Failure to Thrive Glioma Homo sapiens Hypothalamic Diseases Hypothalamic Neoplasms Infant Magnetic Resonance Imaging Male
        

Phenotype(s) retrieved from Orphanet

    Total: 14

HPO ID Term Frequency
HP:0000708 Behavioral abnormality Very frequent (99-80%)
HP:0000864 Abnormality of the hypothalamus-pituitary axis Very frequent (99-80%)
HP:0004325 Decreased body weight Very frequent (99-80%)
HP:0004326 Cachexia Very frequent (99-80%)
HP:0004375 Neoplasm of the nervous system Very frequent (99-80%)
HP:0000040 Long penis Frequent (79-30%)
HP:0000232 Everted lower lip vermilion Frequent (79-30%)
HP:0000238 Hydrocephalus Frequent (79-30%)
HP:0000400 Macrotia Frequent (79-30%)
HP:0000639 Nystagmus Frequent (79-30%)
HP:0000975 Hyperhidrosis Frequent (79-30%)
HP:0100022 Abnormality of movement Frequent (79-30%)
HP:0000648 Optic atrophy Occasional (29-5%)
HP:0001176 Large hands Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 35

HPO ID Term # of case reports
HP:0001508 Failure to thrive 8
HP:0000822 Hypertension 4
HP:0031844 Euphoria 4
HP:0001824 Weight loss 3
HP:0001513 Obesity 2
HP:0002024 Malabsorption 2
HP:0002039 Anorexia 2
HP:0002487 Hyperkinesis 2
HP:0004326 Cachexia 2
HP:0000238 Hydrocephalus 1
HP:0000572 Visual loss 1
HP:0000639 Nystagmus 1
HP:0000648 Optic atrophy 1
HP:0000726 Dementia 1
HP:0000737 Irritability 1
HP:0000741 Apathy 1
HP:0000752 Hyperactivity 1
HP:0000819 Diabetes mellitus 1
HP:0000980 Pallor 1
HP:0001250 Seizures 1
HP:0001269 Hemiparesis 1
HP:0001525 Severe failure to thrive 1
HP:0001541 Ascites 1
HP:0001649 Tachycardia 1
HP:0001909 Leukemia 1
HP:0002072 Chorea 1
HP:0002138 Subarachnoid hemorrhage 1
HP:0002427 Motor aphasia 1
HP:0002516 Increased intracranial pressure 1
HP:0002664 Neoplasm 1
HP:0004395 Malnutrition 1
HP:0009059 Congenital generalized lipodystrophy 1
HP:0009125 Lipodystrophy 1
HP:0040293 Right hemiplegia 1
HP:0200040 Epidermoid cyst 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID