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Published in: Pediatric Nephrology 6/2017

01-06-2017 | Clinical Quiz

When is biopsy-proven TIN not simply TIN? Answers

Authors: Nicholas Ware, Neil J. Sebire, W. K. Chong, Rajesh Krishnan, Stephen D. Marks

Published in: Pediatric Nephrology | Issue 6/2017

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Excerpt

1.
What is the pathognomonic sign of JS?
 
2.
What are the clinical features of JS?
 
3.
What are the renal manifestations typically seen in JS including the radiological and histological findings?
 
4.
What features of this boy’s biopsy was unusual for JS?
 
Literature
1.
go back to reference Maria BL, Quisling RG, Rosainz LC, Yachnis AT, Gitten J, Dede D, Fennell E (1999) Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance. J Child Neurol 14:368–376CrossRefPubMed Maria BL, Quisling RG, Rosainz LC, Yachnis AT, Gitten J, Dede D, Fennell E (1999) Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance. J Child Neurol 14:368–376CrossRefPubMed
2.
go back to reference Patel S, Barkovich AJ (2002) Analysis and classification of cerebellar malformations. Am J Neuroradiol 23:1074–1087PubMed Patel S, Barkovich AJ (2002) Analysis and classification of cerebellar malformations. Am J Neuroradiol 23:1074–1087PubMed
3.
go back to reference Dirik MA, Yiş U, Dirik E (2013) Molar tooth sign is not pathognomonic for Joubert syndrome. Pediatr Neurol 49:515–516CrossRefPubMed Dirik MA, Yiş U, Dirik E (2013) Molar tooth sign is not pathognomonic for Joubert syndrome. Pediatr Neurol 49:515–516CrossRefPubMed
4.
go back to reference Poretti A, Boltshauser E, Valente EM (2014) The molar tooth sign is pathognomonic for Joubert syndrome! Pediatr Neurol 50:e15CrossRefPubMed Poretti A, Boltshauser E, Valente EM (2014) The molar tooth sign is pathognomonic for Joubert syndrome! Pediatr Neurol 50:e15CrossRefPubMed
6.
go back to reference Boltshauser E, Herdan M, Dumermuth G, Isler W (1981) Joubert syndrome: clinical and polygraphic observations in a further case. Neuropediatrics 12:181–191CrossRefPubMed Boltshauser E, Herdan M, Dumermuth G, Isler W (1981) Joubert syndrome: clinical and polygraphic observations in a further case. Neuropediatrics 12:181–191CrossRefPubMed
7.
go back to reference Braddock BA, Farmer JE, Deidrick KM, Iverson JM, Maria BL (2006) Oromotor and communication findings in Joubert syndrome: further evidence of multisystem apraxia. J Child Neurol 21:160–163CrossRefPubMed Braddock BA, Farmer JE, Deidrick KM, Iverson JM, Maria BL (2006) Oromotor and communication findings in Joubert syndrome: further evidence of multisystem apraxia. J Child Neurol 21:160–163CrossRefPubMed
8.
go back to reference Khan AO, Oystreck DT, Seidahmed MZ, AlDrees A, Elmalik SA, Alorainy IA, Salih MA (2008) Ophthalmic features of Joubert syndrome. Ophthalmology 115:2286–2289CrossRefPubMed Khan AO, Oystreck DT, Seidahmed MZ, AlDrees A, Elmalik SA, Alorainy IA, Salih MA (2008) Ophthalmic features of Joubert syndrome. Ophthalmology 115:2286–2289CrossRefPubMed
9.
go back to reference Gregory-Evans CY, Williams M, Halford S, Gregory-Evans K (2004) Ocular coloboma: a reassessment in the age of molecular neuroscience. J Med Genet 41:881–891CrossRefPubMedPubMedCentral Gregory-Evans CY, Williams M, Halford S, Gregory-Evans K (2004) Ocular coloboma: a reassessment in the age of molecular neuroscience. J Med Genet 41:881–891CrossRefPubMedPubMedCentral
10.
go back to reference Desmet VJ (1992) Congenital diseases of intrahepatic bile ducts: variations on the theme “ductal plate malformation”. Hepatology 16:1069–1083CrossRefPubMed Desmet VJ (1992) Congenital diseases of intrahepatic bile ducts: variations on the theme “ductal plate malformation”. Hepatology 16:1069–1083CrossRefPubMed
11.
go back to reference Pellegrino JE, Lensch MW, Muenke M, Chance PF (1997) Clinical and molecular analysis in Joubert syndrome. Am J Med Genet 72:59–62CrossRefPubMed Pellegrino JE, Lensch MW, Muenke M, Chance PF (1997) Clinical and molecular analysis in Joubert syndrome. Am J Med Genet 72:59–62CrossRefPubMed
12.
go back to reference Hodgkins PR, Harris CM, Shawkat FS, Thompson DA, Chong K, Timms C, Russell‐Eggitt I, Taylor DS (2004) Joubert syndrome: long-term follow-up. Dev Med Child Neurol 46:694–699CrossRefPubMed Hodgkins PR, Harris CM, Shawkat FS, Thompson DA, Chong K, Timms C, Russell‐Eggitt I, Taylor DS (2004) Joubert syndrome: long-term follow-up. Dev Med Child Neurol 46:694–699CrossRefPubMed
14.
go back to reference Ben-Salem S, Al-Shamsi AM, Gleeson JG, Ali BR, Al-Gazali L (2015) Mutation spectrum of Joubert syndrome and related disorders among Arabs. Hum Genome Var 2:15001CrossRefPubMedPubMedCentral Ben-Salem S, Al-Shamsi AM, Gleeson JG, Ali BR, Al-Gazali L (2015) Mutation spectrum of Joubert syndrome and related disorders among Arabs. Hum Genome Var 2:15001CrossRefPubMedPubMedCentral
15.
go back to reference Kumada S, Hayashi M, Arima K, Nakayama H, Sugai K, Sasaki M, Kurata K, Nagata M (2004) Renal disease in Arima syndrome is nephronophthisis as in other Joubert-related Cerebello–oculo–renal syndromes. Am J Med Genet 131:71–76CrossRefPubMed Kumada S, Hayashi M, Arima K, Nakayama H, Sugai K, Sasaki M, Kurata K, Nagata M (2004) Renal disease in Arima syndrome is nephronophthisis as in other Joubert-related Cerebello–oculo–renal syndromes. Am J Med Genet 131:71–76CrossRefPubMed
16.
go back to reference Hildebrandt F, Zhou W (2007) Nephronophthisis-associated ciliopathies. J Am SocNephrol 18:1855–1871 Hildebrandt F, Zhou W (2007) Nephronophthisis-associated ciliopathies. J Am SocNephrol 18:1855–1871
18.
go back to reference Zollinger H, Mihatsch M, Edefonti A, Gaboardi F, Imbasciati E, Lennert T (1980) Nephronophthisis (medullary cystic disease of the kidney). A study using electron microscopy, immunofluorescence, and a review of the morphological findings. Helv Paediatr Acta 35:509–530PubMed Zollinger H, Mihatsch M, Edefonti A, Gaboardi F, Imbasciati E, Lennert T (1980) Nephronophthisis (medullary cystic disease of the kidney). A study using electron microscopy, immunofluorescence, and a review of the morphological findings. Helv Paediatr Acta 35:509–530PubMed
19.
go back to reference Parisi MA, Doherty D, Chance PF, Glass IA (2007) Joubert syndrome (and related disorders). Eur J Hum Genet 15:511–521CrossRefPubMed Parisi MA, Doherty D, Chance PF, Glass IA (2007) Joubert syndrome (and related disorders). Eur J Hum Genet 15:511–521CrossRefPubMed
20.
go back to reference Coene KL, Roepman R, Doherty D, Afroze B, Kroes HY, Letteboer SJ, Ngu LH, Budny B, van Wijk E, Gorden NT (2009) OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J Hum Genet 85:465–481CrossRefPubMedPubMedCentral Coene KL, Roepman R, Doherty D, Afroze B, Kroes HY, Letteboer SJ, Ngu LH, Budny B, van Wijk E, Gorden NT (2009) OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J Hum Genet 85:465–481CrossRefPubMedPubMedCentral
21.
go back to reference Roosing S, Hofree M, Kim S, Scott E, Copeland B, Romani M, Silhavy JL, Rosti RO, Schroth J, Mazza T (2015) Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. eLife 4:e06602. doi:10.7554/eLife.06602 Roosing S, Hofree M, Kim S, Scott E, Copeland B, Romani M, Silhavy JL, Rosti RO, Schroth J, Mazza T (2015) Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. eLife 4:e06602. doi:10.​7554/​eLife.​06602
22.
go back to reference Castori M, Valente E, Donati M, Salvi S, Fazzi E, Procopio E, Galluccio T, Emma F, Dallapiccola B, Bertini E (2005) NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. J Med Genet 42:e9CrossRefPubMedPubMedCentral Castori M, Valente E, Donati M, Salvi S, Fazzi E, Procopio E, Galluccio T, Emma F, Dallapiccola B, Bertini E (2005) NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. J Med Genet 42:e9CrossRefPubMedPubMedCentral
23.
go back to reference Otto EA, Schermer B, Obara T, O’Toole JF, Hiller KS, Mueller AM, Ruf RG, Hoefele J, Beekmann F, Landau D (2003) Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Nat Genet 34:413–420CrossRefPubMedPubMedCentral Otto EA, Schermer B, Obara T, O’Toole JF, Hiller KS, Mueller AM, Ruf RG, Hoefele J, Beekmann F, Landau D (2003) Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Nat Genet 34:413–420CrossRefPubMedPubMedCentral
Metadata
Title
When is biopsy-proven TIN not simply TIN? Answers
Authors
Nicholas Ware
Neil J. Sebire
W. K. Chong
Rajesh Krishnan
Stephen D. Marks
Publication date
01-06-2017
Publisher
Springer Berlin Heidelberg
Published in
Pediatric Nephrology / Issue 6/2017
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI
https://doi.org/10.1007/s00467-016-3478-2

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