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Congenital neuroblastoma

MedGen UID:
870538
•Concept ID:
C4024986
•
Neoplastic Process
HPO: HP:0006742

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital neuroblastoma

Conditions with this feature

Aase-Smith syndrome
MedGen UID:
66316
•Concept ID:
C0220686
•
Disease or Syndrome
A very rare genetic disorder with characteristics of the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate and severe joint contractures. Less than 20 cases have been reported in the literature. The fingers are thin with absent knuckles and reduced creases over the joints and patients show an inability to make a full fist. Additional findings may include deformed ears, ptosis, an inability to open the mouth fully, heart defects, and clubfoot. There are currently no human genes associated with this disease.
See: Condition Record
Aase-Smith syndrome

Professional guidelines

PubMed

Differential diagnosis of neonatal adrenal haemorrhage and congenital neuroblastoma by colour coded Doppler sonography and power Doppler sonography.
Deeg KH, Bettendorf U, Hofmann V
Eur J Pediatr 1998 Apr;157(4):294-7. doi: 10.1007/s004310050814. PMID: 9578964

Recent clinical studies

Etiology

Congenital neuroblastoma with symptoms of epidural compression at birth.
Gigliotti AR, De Ioris MA, De Grandis E, Podda M, Cellini M, Sorrentino S, De Bernardi B, Paladini D, Gandolfo C
Pediatr Hematol Oncol 2016 Mar;33(2):94-101. Epub 2016 Feb 22 doi: 10.3109/08880018.2015.1135364. PMID: 26901768
Chemotherapy as a therapeutic option for congenital neuroblastoma complicated by paraplegia.
Walter KN, Kratz C, Uhl M, Niemeyer C
Klin Padiatr 2008 May-Jun;220(3):175-7. doi: 10.1055/s-2008-1065340. PMID: 18478490
Congenital neuroblastoma mimicking early onset sepsis.
Lindner W, Behnisch W, Kunz U, Debatin KM, Pohlandt F
Eur J Pediatr 2001 Jul;160(7):436-8. doi: 10.1007/s004310100772. PMID: 11475582
Incidentally discovered adrenal masses.
Caplan RH, Kisken WA, Huiras CM
Minn Med 1991 Aug;74(8):23-6. PMID: 1921930
CONGENITAL NEUROBLASTOMA.
EVANS AR
J Clin Pathol 1965 Jan;18(1):54-62. doi: 10.1136/jcp.18.1.54. PMID: 14247705Free PMC Article

Diagnosis

Congenital Neuroblastoma.
Minakova E, Lang J
Neoreviews 2020 Nov;21(11):e716-e727. doi: 10.1542/neo.21-11-e716. PMID: 33139509
Congenital neuroblastoma presenting with paraplegia following spinal puncture in a neonate. Case report and review of the literature.
Kilani M, Hammami S, Darmoul M, Haddad S, Ben Nsir A, Mnari W, Hattab MN
Arch Pediatr 2016 Mar;23(3):279-82. Epub 2015 Dec 24 doi: 10.1016/j.arcped.2015.11.023. PMID: 26724980
A case of Rubinstein-Taybi syndrome and congenital neuroblastoma.
de Kort E, Conneman N, Diderich K
Am J Med Genet A 2014 May;164A(5):1332-3. Epub 2014 Jan 23 doi: 10.1002/ajmg.a.36399. PMID: 24458435
CONGENITAL NEUROBLASTOMA.
MACKENZIE DC, HAM JM, HYSLOP RS
Aust N Z J Surg 1965 Feb;34:171-7. PMID: 14271059
CONGENITAL NEUROBLASTOMA.
EVANS AR
J Clin Pathol 1965 Jan;18(1):54-62. doi: 10.1136/jcp.18.1.54. PMID: 14247705Free PMC Article

Therapy

Gastroschisis in a fetus with a congenital neuroblastoma: Association or coincidence?
Rosa RF, Michelon L, Masiero Á, Faria AE, De Souza VF, Dietrich C, Targa LV, Provenzi VO, Pires SR, Zen PR
Birth Defects Res A Clin Mol Teratol 2016 Mar;106(3):208-12. Epub 2016 Feb 15 doi: 10.1002/bdra.23484. PMID: 26875914
Congenital neuroblastoma presenting with paraplegia following spinal puncture in a neonate. Case report and review of the literature.
Kilani M, Hammami S, Darmoul M, Haddad S, Ben Nsir A, Mnari W, Hattab MN
Arch Pediatr 2016 Mar;23(3):279-82. Epub 2015 Dec 24 doi: 10.1016/j.arcped.2015.11.023. PMID: 26724980
Concordance for neuroblastoma in monozygotic twins: case report and review of the literature.
Tajiri T, Souzaki R, Kinoshita Y, Tanaka S, Koga Y, Suminoe A, Hara T, Kohashi K, Oda Y, Masumoto K, Ohira M, Nakagawara A, Taguchi T
J Pediatr Surg 2010 Dec;45(12):2312-6. doi: 10.1016/j.jpedsurg.2010.08.025. PMID: 21129536
Pelvic teratoma with extensive spinal involvement in a neonate: an important differential diagnosis.
Wilkins S, Pilling D, Buxton N, Pizer B
Br J Neurosurg 2008 Jun;22(3):426-8. doi: 10.1080/02688690701704531. PMID: 18568732
Congenital neuroblastoma with multiple subcutaneous noduls.
Ansari S, Hossini AA, Solimani SM
Pediatr Hematol Oncol 2007 Jan-Feb;24(1):85-6. doi: 10.1080/08880010601015099. PMID: 17130119

Prognosis

Congenital Neuroblastoma.
Minakova E, Lang J
Neoreviews 2020 Nov;21(11):e716-e727. doi: 10.1542/neo.21-11-e716. PMID: 33139509
A case of Rubinstein-Taybi syndrome and congenital neuroblastoma.
de Kort E, Conneman N, Diderich K
Am J Med Genet A 2014 May;164A(5):1332-3. Epub 2014 Jan 23 doi: 10.1002/ajmg.a.36399. PMID: 24458435
Congenital neuroblastoma: an autopsy report.
Gupta K, Bansal A
Fetal Pediatr Pathol 2012 Oct;31(5):331-5. Epub 2012 Mar 20 doi: 10.3109/15513815.2012.659395. PMID: 22432426
Congenital neuroblastoma with cutaneous metastases.
Gunes T, Akcakus M
Indian Pediatr 2002 Mar;39(3):308. PMID: 11910145
CONGENITAL NEUROBLASTOMA.
EVANS AR
J Clin Pathol 1965 Jan;18(1):54-62. doi: 10.1136/jcp.18.1.54. PMID: 14247705Free PMC Article

Clinical prediction guides

Congenital Neuroblastoma.
Minakova E, Lang J
Neoreviews 2020 Nov;21(11):e716-e727. doi: 10.1542/neo.21-11-e716. PMID: 33139509
Neuroblastoma in a Neonate: A Case Report.
Jnah AJ, Evans SK, Sewell K, Trembath A
Neonatal Netw 2019 Nov 1;38(6):341-347. doi: 10.1891/0730-0832.38.6.341. PMID: 31712398
The observation of congenital retroperitoneal large size neuroblastoma.
Starchenko II, Dyachenko LV, Prylutskyi ОK, Vynnyk NI, Filenko BM
Exp Oncol 2019 Jun;41(2):179-181. doi: 10.32471/exp-oncology.2312-8852.vol-41-no-2.13321. PMID: 31262150
Congenital neuroblastoma with placental involvement.
Kume A, Morikawa T, Ogawa M, Yamashita A, Yamaguchi S, Fukayama M
Int J Clin Exp Pathol 2014;7(11):8198-204. Epub 2014 Oct 15 PMID: 25550872Free PMC Article
Ondine-Hirschsprung syndrome (Haddad syndrome). Further delineation in two cases and review of the literature.
Verloes A, Elmer C, Lacombe D, Heinrichs C, Rebuffat E, Demarquez JL, Moncla A, Adam E
Eur J Pediatr 1993 Jan;152(1):75-7. doi: 10.1007/BF02072522. PMID: 8444212

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