Rhombencephalosynapsis associated with autosomal dominant polycystic kidney disease Type 1.

Rhombencephalosynapsis (RES) is a rare congenital malformation of the cerebellum characterized by hypogenesis or agenesis of the vermis and fusion of the cerebellar hemispheres with or without fusion of the dentate nuclei and superior cerebellar peduncles. No genetic or chromosomal abnormalities have been identified for RES. Although the occurrence of RES is presumed to be sporadic, no clear pattern of inheritance has been identified. The authors report on a 17-year-old girl with autosomal dominant polycystic kidney disease Type 1 as well as RES.

[1]  A. Poretti,et al.  Cognitive outcome in children with rhombencephalosynapsis. , 2009, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[2]  W. Halliday,et al.  Rhombencephalosynapsis: prenatal imaging and autopsy findings , 2008, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[3]  A. Poretti,et al.  Gomez-Lopez-Hernandez syndrome: an easily missed diagnosis. , 2008, European journal of medical genetics.

[4]  Y. Akova,et al.  Rhombencephalosynapsis Associated with Infantile Strabismus , 2008, Strabismus.

[5]  Yves Pirson,et al.  Autosomal dominant polycystic kidney disease , 1992, The Lancet.

[6]  J. Chemli,et al.  Rhombencephalosynapsis diagnosed in childhood: clinical and MRI findings. , 2007, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[7]  P. Best,et al.  Two cases of agenesis of the vermis of cerebellum, with fusion of the dentate nuclei and cerebellar hemispheres , 2004, Acta Neuropathologica.

[8]  N. Kocer,et al.  Rhombencephalosynapsis: clinical findings and neuroimaging in 9 children. , 2002, Neuropediatrics.

[9]  B. Gürakan,et al.  Familial arachnoid cysts in association with autosomal dominant polycystic kidney disease. , 2002, Pediatrics.

[10]  K. Eberhardt,et al.  Intracranial aneurysms and dolichoectasia in autosomal dominant polycystic kidney disease. , 2002, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

[11]  A. Yachnis.  Rhombencephalosynapsis with massive hydrocephalus: case report and pathogenetic considerations , 2002, Acta Neuropathologica.

[12]  V. Torres,et al.  Management of cerebral aneurysms in autosomal dominant polycystic kidney disease. , 2002, Journal of the American Society of Nephrology : JASN.

[13]  P. Wheeler,et al.  Gomez-Lopez-Hernandez syndrome: expansion of the phenotype. , 2000, American journal of medical genetics.

[14]  L. Guyot,et al.  Adult rhombencephalosynapsis. Case report. , 2000, Journal of neurosurgery.

[15]  J. Mercader,et al.  Neuroradiological and clinical findings in rhombencephalosynapsis , 2000, Neuroradiology.

[16]  A. Federico,et al.  Oral self-mutilation in a patient with rhombencephalosynapsys. , 2000, Journal of intellectual disability research : JIDR.

[17]  M. Elmaleh,et al.  Rhombencephalosynapsis diagnosed in childhood: clinical and MRI findings. , 2000, Magnetic resonance imaging.

[18]  M. Rocco,et al.  Rhombencephalosynapsis with facial anomalies and probable autosomal recessive inheritance: a case report , 1997, Clinical genetics.

[19]  D. Wiebers,et al.  Intracranial arterial dolichoectasia in autosomal dominant polycystic kidney disease. , 1997, Journal of the American Society of Nephrology : JASN.

[20]  A. Cila,et al.  Rhombencephalosynapsis associated with hand anomalies. , 1997, The British journal of radiology.

[21]  J. Shugar,et al.  Subcutaneous fat necrosis of the newborn: CT findings of head and neck involvement. , 1997, AJNR. American journal of neuroradiology.

[22]  X. Estivill,et al.  Linkage, clinical features, and prognosis of autosomal dominant polycystic kidney disease types 1 and 2. , 1996, Journal of the American Society of Nephrology : JASN.

[23]  W. Marsh,et al.  Intracranial cysts in autosomal dominant polycystic kidney disease. , 1995, Journal of neurosurgery.

[24]  P. Gabow,et al.  Natural history of autosomal dominant polycystic kidney disease. , 1994, Annual review of medicine.

[25]  P. Gabow,et al.  Autosomal dominant polycystic kidney disease. , 1993, American journal of kidney diseases : the official journal of the National Kidney Foundation.

[26]  Charles L. Truwit,et al.  MRI and Clinical Findings in Rhombencephalosynapsis , 1993, Journal of computer assisted tomography.

[27]  Ann M. Johnson,et al.  Intracranial aneurysms in autosomal dominant polycystic kidney disease. , 1992, The New England journal of medicine.

[28]  C. Truwit,et al.  MR imaging of rhombencephalosynapsis: report of three cases and review of the literature. , 1991, AJNR. American journal of neuroradiology.