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.



Input patient's signs and symptoms


Narrow down the case reports



Total: 51 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
5
(4.0%)
12042123
[Diencephalic syndrome: An uncommon cause of malnutrition].
Moreno Villares JM, Fernandez Carrion F, Gallego Fernandez ME, Munoz Gonzalez A, Manzanares Lopez-Manzanares J, Rodrigo Alfageme M.
An Esp Pediatr. 2002;56(5):466-71.
Polyuria
Females Homo sapiens Hypothalamic Diseases Infant Male Nutrition Disorders
5
(4.0%)
9793017
[Endoscopic projectile extraction in treatment of a gunshot injury to the head].
Madei W, Altscher T, Nistor R, Hoerauf K.
Dtsch Med Wochenschr. 1998;123(39):1139-42.
Paralysis
Brain Injuries Cerebral Ventricles Endoscopes Foreign Bodies Homo sapiens Image Processing, Computer-Assisted Male Neurologic Examination Repeat Surgery X-Ray Computed Tomography
5
(4.0%)
9524084
Cisplatin/vincristine chemotherapy for hypothalamic/visual pathway astrocytomas in young children.
Kato T, Sawamura Y, Tada M, Ikeda J, Ishii N, Abe H.
J Neurooncol. 1998;37(3):263-70.
Renal insufficiency
Antineoplastic Agents Antineoplastic Agents, Phytogenic Antineoplastic Combined Chemotherapy Protocols Astrocytoma Brain Neoplasms Child, Preschool Females Homo sapiens Hypothalamic Neoplasms Infant Magnetic Resonance Imaging Male Visual Pathways
5
(4.0%)
9014966
Simultaneous bilateral thalamic hemorrhages following the administration of intravenous tissue plasminogen activator.
Dromerick AW, Meschia JF, Kumar A, Hanlon RE.
Arch Phys Med Rehabil. 1997;78(1):92-4.
Stroke
Amnesia Cerebral Hemorrhage Cognition Disorders Females Homo sapiens Myocardial Infarction Plasminogen Activator X-Ray Computed Tomography
5
(4.0%)
8501572
Increased energy expenditure in a patient with diencephalic syndrome.
Vlachopapadopoulou E, Tracey KJ, Capella M, Gilker C, Matthews DE.
J Pediatr. 1993;122(6):922-4.
Weight loss
Astrocytoma Energy Intake Energy Metabolism Failure to Thrive Females Homo sapiens Hypothalamic Neoplasms Infant Syndrome
5
(4.0%)
8302225
[Diencephalic syndrome. Case report and review of literature].
Baracchini A, Chiaravalloti G, Del Pistoia M, Ceccarelli M.
Minerva Pediatr. 1993;45(10):407-10.
Malabsorption
Astrocytoma Brain Neoplasms Homo sapiens Infant Magnetic Resonance Imaging Malabsorption Syndrome Male
5
(4.0%)
8274094
Hypothalamic tumor associated with atypical forms of anorexia nervosa and diencephalic syndrome.
Chipkevitch E, Fernandes AC.
Arq Neuropsiquiatr. 1993;51(2):270-4.
Anorexia
Anorexia Nervosa Child Dermoid Cyst Differential Diagnosis Females Homo sapiens Hypothalamic Neoplasms X-Ray Computed Tomography
5
(4.0%)
7405248
[Optic nerve atrophy and diabetes mellitus (author's transl)].
Halmos T, Suba I, Barta L.
Wien Klin Wochenschr. 1980;92(8):279-82.
Nystagmus
Complications of Diabetes Mellitus Deafness Homo sapiens Male Neurogenic Urinary Bladder Optic Atrophy Urination Disorders
5
(4.0%)
7349011
[Russell syndrome. Report of a case].
Mello Chemak ID, Medina GR, Farinatti F.
Acta Neurol Latinoam. 1980;26(4):275-82.
Failure to thrive
Astrocytoma Brain Neoplasms Child, Preschool Emaciation Females Homo sapiens Precocious Puberty Syndrome
5
(4.0%)
7273550
Surgical syndromes of the hypothalamus.
Carmel PW.
Clin Neurosurg. 1980;27:133-59.
Apathy
Adenoma Adult Child Child, Preschool Cyst Diabetes Insipidus Females Glioma Homo sapiens Hypothalamic Diseases Hypothalamic Neoplasms Infant Male Middle Aged Nutrition Disorders Syndrome X-Ray Computed Tomography
        

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