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Abnormal diencephalon morphology

MedGen UID:
869326
•Concept ID:
C4023752
•
Anatomical Abnormality
Synonym: Abnormality of the diencephalon
 
HPO: HP:0010662

Definition

An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain. [from HPO]

Professional guidelines

PubMed

Diagnosis and management of congenital hypopituitarism in children.
Castets S, Thomas-Teinturier C, Villanueva C, Amsellem J, Barat P, Brun G, Quoc EB, Carel JC, De Filippo GP, Kipnis C, Martinerie L, Vergier J, Saveanu A, Teissier N, Coutant R, Léger J, Reynaud R
Arch Pediatr 2024 Apr;31(3):165-171. Epub 2024 Mar 27 doi: 10.1016/j.arcped.2024.01.003. PMID: 38538470
Primary amenorrhea: diagnosis and management.
Marsh CA, Grimstad FW
Obstet Gynecol Surv 2014 Oct;69(10):603-12. doi: 10.1097/OGX.0000000000000111. PMID: 25336070
Central post-stroke pain: clinical characteristics, pathophysiology, and management.
Klit H, Finnerup NB, Jensen TS
Lancet Neurol 2009 Sep;8(9):857-68. doi: 10.1016/S1474-4422(09)70176-0. PMID: 19679277

Recent clinical studies

Etiology

Congenital Achiasma.
Lecler A, Attye A, Edelson C
J Neuroophthalmol 2018 Sep;38(3):344-346. doi: 10.1097/WNO.0000000000000650. PMID: 29561327
Major depressive disorder.
Otte C, Gold SM, Penninx BW, Pariante CM, Etkin A, Fava M, Mohr DC, Schatzberg AF
Nat Rev Dis Primers 2016 Sep 15;2:16065. doi: 10.1038/nrdp.2016.65. PMID: 27629598
Rathke's cleft cyst.
Larkin S, Karavitaki N, Ansorge O
Handb Clin Neurol 2014;124:255-69. doi: 10.1016/B978-0-444-59602-4.00017-4. PMID: 25248592
Circadian rhythm abnormalities.
Zee PC, Attarian H, Videnovic A
Continuum (Minneap Minn) 2013 Feb;19(1 Sleep Disorders):132-47. doi: 10.1212/01.CON.0000427209.21177.aa. PMID: 23385698Free PMC Article
The hypothalamus.
Settle M
Neonatal Netw 2000 Sep;19(6):9-14. doi: 10.1891/0730-0832.19.6.9. PMID: 11949123

Diagnosis

Neuroimaging of the Pituitary Gland: Practical Anatomy and Pathology.
Chapman PR, Singhal A, Gaddamanugu S, Prattipati V
Radiol Clin North Am 2020 Nov;58(6):1115-1133. Epub 2020 Sep 17 doi: 10.1016/j.rcl.2020.07.009. PMID: 33040852
Rathke's cleft cyst.
Larkin S, Karavitaki N, Ansorge O
Handb Clin Neurol 2014;124:255-69. doi: 10.1016/B978-0-444-59602-4.00017-4. PMID: 25248592
Septo-optic dysplasia.
Ferran Kd, Paiva IA, Gilban DL, Resende M, Souza MA, Beserra IC, Guimarães MM
Arq Neuropsiquiatr 2010 Jun;68(3):400-5. doi: 10.1590/s0004-282x2010000300014. PMID: 20602044
Pituitary stalk lesions.
Rupp D, Molitch M
Curr Opin Endocrinol Diabetes Obes 2008 Aug;15(4):339-45. doi: 10.1097/MED.0b013e3283050844. PMID: 18594274
Diabetes insipidus.
Maghnie M
Horm Res 2003;59 Suppl 1:42-54. doi: 10.1159/000067844. PMID: 12566720

Therapy

Major depressive disorder.
Otte C, Gold SM, Penninx BW, Pariante CM, Etkin A, Fava M, Mohr DC, Schatzberg AF
Nat Rev Dis Primers 2016 Sep 15;2:16065. doi: 10.1038/nrdp.2016.65. PMID: 27629598
Exogenous and evoked oxytocin restores social behavior in the Cntnap2 mouse model of autism.
Peñagarikano O, Lázaro MT, Lu XH, Gordon A, Dong H, Lam HA, Peles E, Maidment NT, Murphy NP, Yang XW, Golshani P, Geschwind DH
Sci Transl Med 2015 Jan 21;7(271):271ra8. doi: 10.1126/scitranslmed.3010257. PMID: 25609168Free PMC Article
Pituitary incidentaloma.
Orija IB, Weil RJ, Hamrahian AH
Best Pract Res Clin Endocrinol Metab 2012 Feb;26(1):47-68. doi: 10.1016/j.beem.2011.07.003. PMID: 22305452
Central post-stroke pain: clinical characteristics, pathophysiology, and management.
Klit H, Finnerup NB, Jensen TS
Lancet Neurol 2009 Sep;8(9):857-68. doi: 10.1016/S1474-4422(09)70176-0. PMID: 19679277
Adolescent menstrual irregularity.
Mansfield MJ, Emans SJ
J Reprod Med 1984 Jun;29(6):399-410. PMID: 6379175

Prognosis

Architects of Pituitary Tumour Growth.
Sabatino ME, Grondona E, De Paul AL
Front Endocrinol (Lausanne) 2022;13:924942. Epub 2022 Jun 28 doi: 10.3389/fendo.2022.924942. PMID: 35837315Free PMC Article
Congenital Achiasma.
Lecler A, Attye A, Edelson C
J Neuroophthalmol 2018 Sep;38(3):344-346. doi: 10.1097/WNO.0000000000000650. PMID: 29561327
Tracking posttraumatic hemianopia.
Decramer T, Van Keer K, Stalmans P, Dupont P, Sunaert S, Theys T
J Neurol 2018 Jan;265(1):41-45. Epub 2017 Nov 6 doi: 10.1007/s00415-017-8661-2. PMID: 29110092
Pituitary dysfunction in granulomatosis with polyangiitis.
Esposito D, Trimpou P, Giugliano D, Dehlin M, Ragnarsson O
Pituitary 2017 Oct;20(5):594-601. doi: 10.1007/s11102-017-0811-0. PMID: 28540625Free PMC Article
The hypothalamus.
Settle M
Neonatal Netw 2000 Sep;19(6):9-14. doi: 10.1891/0730-0832.19.6.9. PMID: 11949123

Clinical prediction guides

Pineal morphology of the clinical high-risk state for psychosis and different psychotic disorders.
Takahashi T, Wood SJ, Yung AR, Nelson B, Lin A, Yuen HP, Phillips LJ, Suzuki M, McGorry PD, Velakoulis D, Pantelis C
Schizophr Res 2022 Jun;244:1-7. Epub 2022 Apr 26 doi: 10.1016/j.schres.2022.04.005. PMID: 35487129
The basal ganglia and the cerebellum: nodes in an integrated network.
Bostan AC, Strick PL
Nat Rev Neurosci 2018 Jun;19(6):338-350. doi: 10.1038/s41583-018-0002-7. PMID: 29643480Free PMC Article
Bilateral Paramedian Thalamic Infarction.
Hawkes MA, Arena JE, Rollán C, Pujol-Lereis VA, Romero C, Ameriso SF
Neurologist 2015 Nov;20(5):89-92. doi: 10.1097/NRL.0000000000000047. PMID: 26566040
Schizophrenia, neurodevelopment and corpus callosum.
Innocenti GM, Ansermet F, Parnas J
Mol Psychiatry 2003 Mar;8(3):261-74. doi: 10.1038/sj.mp.4001205. PMID: 12660799
PIT1 abnormality.
Tatsumi K, Amino N
Growth Horm IGF Res 1999 Jun;9 Suppl B:18-22; discussion 23. doi: 10.1016/s1096-6374(99)80076-8. PMID: 10549301

Recent systematic reviews

Pituitary dysfunction in granulomatosis with polyangiitis.
Esposito D, Trimpou P, Giugliano D, Dehlin M, Ragnarsson O
Pituitary 2017 Oct;20(5):594-601. doi: 10.1007/s11102-017-0811-0. PMID: 28540625Free PMC Article
Hypothalamic-pituitary-adrenal axis function in Fragile X Syndrome and its relationship to behaviour: A systematic review.
Hardiman RL, Bratt A
Physiol Behav 2016 Dec 1;167:341-353. Epub 2016 Oct 5 doi: 10.1016/j.physbeh.2016.09.030. PMID: 27720735
Adhesio interthalamica alterations in schizophrenia spectrum disorders: A systematic review and meta-analysis.
Trzesniak C, Kempton MJ, Busatto GF, de Oliveira IR, Galvão-de Almeida A, Kambeitz J, Ferrari MC, Filho AS, Chagas MH, Zuardi AW, Hallak JE, McGuire PK, Crippa JA
Prog Neuropsychopharmacol Biol Psychiatry 2011 Jun 1;35(4):877-86. Epub 2011 Feb 16 doi: 10.1016/j.pnpbp.2010.12.024. PMID: 21300129
Glutamatergic abnormalities of the thalamus in schizophrenia: a systematic review.
Watis L, Chen SH, Chua HC, Chong SA, Sim K
J Neural Transm (Vienna) 2008;115(3):493-511. Epub 2008 Feb 26 doi: 10.1007/s00702-007-0859-5. PMID: 18301955
Decreased T2 signal in the thalami may be a sign of lysosomal storage disease.
Autti T, Joensuu R, Aberg L
Neuroradiology 2007 Jul;49(7):571-8. Epub 2007 Mar 3 doi: 10.1007/s00234-007-0220-6. PMID: 17334752

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