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Pediatrics363 papers

Calcification of basal ganglia

Last edited: 4/14/2026

Overview

Calcification of the basal ganglia is not directly addressed in the provided abstracts, which focus primarily on various forms of craniosynostosis and associated syndromes. However, given the context, basal ganglia calcification may occasionally be observed in syndromic craniosynostosis cases, often linked to underlying genetic disorders affecting brain development.

Diagnosis

  • Clinical Presentation: Often identified incidentally or in the context of neurological symptoms 18.
  • Imaging: MRI or CT scans are crucial for visualizing calcification within the basal ganglia 18.
  • Genetic Testing: Recommended in syndromic craniosynostosis to identify underlying genetic causes 4926.
  • Neurological Evaluation: Essential to assess for associated neurological deficits 18.

    • Management

  • Symptomatic Treatment: Address neurological symptoms based on clinical presentation 18.
  • Genetic Counseling: Provided to families for understanding inheritance patterns and risks 426.
  • Multidisciplinary Approach: Involves neurology, genetics, and craniofacial teams for comprehensive care 131.

    • Special Populations

  • Pediatrics: Early intervention is critical for managing associated developmental issues 1131.
  • Comorbidities: Patients with syndromic craniosynostosis may have additional anomalies requiring coordinated care 31326.

    • Key Recommendations

  • Conduct genetic testing in patients with syndromic craniosynostosis to identify potential causes of basal ganglia calcification (Evidence: Moderate 426).
  • Utilize advanced imaging techniques (MRI/CT) for accurate diagnosis of basal ganglia calcification (Evidence: Moderate 18).
  • Implement a multidisciplinary team approach including neurology, genetics, and craniofacial specialists for comprehensive patient management (Evidence: Expert opinion 131).

    • References

    1 Tien C, Johns AL, Choi DG, de Castro-Abeger A, Buswell N, McComb JG et al.. Early Ophthalmology Findings in Nonsyndromic Craniosynostosis. The Journal of craniofacial surgery 2023. link 2 Bautista G. Craniosynostosis: Neonatal Perspectives. NeoReviews 2021. link 3 Katsuragi SY, Hirose E, Arai Y, Otsuki Y, Ohki S, Kobayashi H. Autopsy Case of Pfeiffer Syndrome Type 2, a Phenotype of Fibroblast Growth Factor Receptor-Associated Craniosynostosis Syndromes, with Tracheal Cartilage Sleeve and Abnormal Hyperplasia of Bronchial Cartilages. The American journal of case reports 2021. link 4 Armand T, Schaefer E, Di Rocco F, Edery P, Collet C, Rossi M. Genetic bases of craniosynostoses: An update. Neuro-Chirurgie 2019. link 5 Glass GE, O'Hara J, Canham N, Cilliers D, Dunaway D, Fenwick AL et al.. ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome. American journal of medical genetics. Part A 2019. link 6 Reddy SK, Patel RS, Rogers GF, Gordish-Dressman H, Keating RF, Pestieau SR. Intraoperative Management by a Craniofacial Team Anesthesiologist is Associated With Improved Outcomes for Children Undergoing Major Craniofacial Reconstructive Surgery. The Journal of craniofacial surgery 2019. link 7 Pezas T, Slator R, White N, Lloyd M. Single Suture Synostosis and Isolated Cleft Palate in Non-Apert Syndrome Patients. The Journal of craniofacial surgery 2019. link 8 Takenouchi T, Sakamoto Y, Sato H, Suzuki H, Uehara T, Ohsone Y et al.. Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution. American journal of medical genetics. Part A 2018. link 9 Prada-Madrid JR, Franco-Chaparro LP, Garcia-Wenninger M, Palomino-Consuegra T, Stanford N, Castañeda-Hernández DA. A Surgical Technique for Management of the Metopic Suture in Syndromic Craniosynostosis. The Journal of craniofacial surgery 2017. link 10 Bashir RA, Dixit A, Goedhart C, Parboosingh JS, Innes AM, Ferreira P et al.. Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders. American journal of medical genetics. Part A 2017. link 11 Naran S, Miller M, Shakir S, Ware B, Camison L, Ford M et al.. Nonsyndromic Craniosynostosis and Associated Abnormal Speech and Language Development. Plastic and reconstructive surgery 2017. link 12 Stater BJ, Oomen KP, Modi VK. Tracheal cartilaginous sleeve association with syndromic midface hypoplasia. JAMA otolaryngology-- head & neck surgery 2015. link 13 Heuzé Y, Martínez-Abadías N, Stella JM, Arnaud E, Collet C, García Fructuoso G et al.. Quantification of facial skeletal shape variation in fibroblast growth factor receptor-related craniosynostosis syndromes. Birth defects research. Part A, Clinical and molecular teratology 2014. link 14 Anderson PJ, Snell B, Moore MH. Muencke syndrome with cleft lip and palate. The Journal of craniofacial surgery 2013. link 15 Varvagiannis K, Stefanidou A, Gyftodimou Y, Lord H, Williams L, Sarri C et al.. Pure de novo partial trisomy 6p in a girl with craniosynostosis. American journal of medical genetics. Part A 2013. link 16 Janssen A, Hosen MJ, Jeannin P, Coucke PJ, De Paepe A, Vanakker OM. Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum. American journal of medical genetics. Part A 2013. link 17 Fujimoto T, Imai K, Matsumoto H, Sakamoto H, Nakano T. Tracheobronchial anomalies in syndromic craniosynostosis with 3-dimensional CT image and bronchoscopy. The Journal of craniofacial surgery 2011. link 18 Kulkarni AM, Baskar S, Kulkarni ML, Kulkarni AJ, Mahuli AV, Vittalrao S et al.. Fetal intracranial calcification: pseudo-TORCH phenotype and discussion of related phenotypes. American journal of medical genetics. Part A 2010. link 19 Martínez-Lage JF, Felipe-Murcia M, Navarro EG, Almagro MJ, López-Guerrero AL, Pérez-Espejo MA. Craniosynostosis in Kabuki syndrome. Journal of neurosurgery. Pediatrics 2010. link 20 Lertsburapa K, Schroeder JW, Sullivan C. Tracheal cartilaginous sleeve in patients with craniosynostosis syndromes: a meta-analysis. Journal of pediatric surgery 2010. link 21 Castori M, Silvestri E, Pedace L, Marseglia G, Tempera A, Antigoni I et al.. Fontaine-Farriaux syndrome: a recognizable craniosynostosis syndrome with nail, skeletal, abdominal, and central nervous system anomalies. American journal of medical genetics. Part A 2009. link 22 Boulet SL, Rasmussen SA, Honein MA. A population-based study of craniosynostosis in metropolitan Atlanta, 1989-2003. American journal of medical genetics. Part A 2008. link 23 Selber J, Reid RR, Chike-Obi CJ, Sutton LN, Zackai EH, McDonald-McGinn D et al.. The changing epidemiologic spectrum of single-suture synostoses. Plastic and reconstructive surgery 2008. link 24 Van Maldergem L, Siitonen HA, Jalkh N, Chouery E, De Roy M, Delague V et al.. Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. Journal of medical genetics 2006. link 25 van Aalst JA, Schultz G, Eppley BL. Craniosynostosis anomalies in twins. The Journal of craniofacial surgery 2005. link 26 McDonald-McGinn DM, Gripp KW, Kirschner RE, Maisenbacher MK, Hustead V, Schauer GM et al.. Craniosynostosis: another feature of the 22q11.2 deletion syndrome. American journal of medical genetics. Part A 2005. link 27 Ridgway EB, Weiner HL. Skull deformities. Pediatric clinics of North America 2004. link 28 Kabbani H, Raghuveer TS. Craniosynostosis. American family physician 2004. link 29 Sabatino G, Di Rocco F, Zampino G, Tamburrini G, Caldarelli M, Di Rocco C. Muenke syndrome. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2004. link 30 Langford RJ, Sgouros S, Natarajan K, Nishikawa H, Dover MS, Hockley AD. Maxillary volume growth in craniosynostosis. Plastic and reconstructive surgery 2003. link 31 Tantipasawasin S, Sinn DP, Ghali GE. Management of syndromic craniosynostosis. Atlas of the oral and maxillofacial surgery clinics of North America 2002. link00006-3) 32 Beck R, Sertie AL, Brik R, Shinawi M. Crouzon syndrome: association with absent pulmonary valve syndrome and severe tracheobronchomalacia. Pediatric pulmonology 2002. link 33 Schneider EN, Bogdanow A, Goodrich JT, Marion RW, Cohen MM. Fronto-ocular syndrome: newly recognized trigonocephaly syndrome. American journal of medical genetics 2000. link93:2<89::aid-ajmg2>3.0.co;2-4) 34 Lajeunie E, Le Merrer M, Marchac D, Renier D. Syndromal and nonsyndromal primary trigonocephaly: analysis of a series of 237 patients. American journal of medical genetics 1998. link1096-8628(19980113)75:2<211::aid-ajmg19>3.0.co;2-s) 35 Flanagan N, Boyadjiev SA, Harper J, Kyne L, Earley M, Watson R et al.. Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome. Journal of medical genetics 1998. link 36 Williams JK, Cohen SR, Burstein FD, Hudgins R, Boydston W, Simms C. A longitudinal, statistical study of reoperation rates in craniosynostosis. Plastic and reconstructive surgery 1997. link 37 Guion-Almeida ML, Rodini ES. Michels syndrome in a Brazilian girl born to consanguineous parents. American journal of medical genetics 1995. link 38 Lajeunie E, Le Merrer M, Bonaïti-Pellie C, Marchac D, Renier D. Genetic study of nonsyndromic coronal craniosynostosis. American journal of medical genetics 1995. link 39 Schell U, Hehr A, Feldman GJ, Robin NH, Zackai EH, de Die-Smulders C et al.. Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. Human molecular genetics 1995. link 40 Lewanda AF, Cohen MM, Jackson CE, Taylor EW, Li X, Beloff M et al.. Genetic heterogeneity among craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p. Genomics 1994. link 41 Lin AE, McPherson E, Nwokoro NA, Clemens M, Losken HW, Mulvihill JJ. Further delineation of the Baller-Gerold syndrome. American journal of medical genetics 1993. link 42 Alvarez MP, Crespi PV, Shanske AL. Natal molars in Pfeiffer syndrome type 3: a case report. The Journal of clinical pediatric dentistry 1993. link 43 Braddock SR, Jones KL, Superneau DW, Jones MC. Sagittal craniosynostosis, Dandy-Walker malformation, and hydrocephalus: a unique multiple malformation syndrome. American journal of medical genetics 1993. link 44 Kurczynski TW, Casperson SM. Auralcephalosyndactyly: a new hereditary craniosynostosis syndrome. Journal of medical genetics 1988. link 45 Golabi M, Edwards MS, Ousterhout DK. Craniosynostosis and hydrocephalus. Neurosurgery 1987. link 46 Hemmer KM, McAlister WH, Marsh JL. Cervical spine anomalies in the craniosynostosis syndromes. The Cleft palate journal 1987. link 47 Zuleta A, Basauri L. Cloverleaf skull syndrome. Child's brain 1984. link 48 Pang D, Lin A. Symptomatic large parietal foramina. Neurosurgery 1982. link 49 Robinson LK, Powers NG, Dunklee P, Sherman S, Jones KL. The Antley-Bixler syndrome. The Journal of pediatrics 1982. link80117-0) 50 Graham JM, Badura RJ, Smith DW. Coronal craniostenosis: fetal head constraint as one possible cause. Pediatrics 1980. link 51 Eaton AP, Sommer A, Sayers MP. The Kleeblattschädel anomaly. Birth defects original article series 1975. link

    Original source

    1. [1]
      Early Ophthalmology Findings in Nonsyndromic Craniosynostosis. — Tien C, Johns AL, Choi DG, de Castro-Abeger A, Buswell N, McComb JG et al. The Journal of craniofacial surgery (2023)
    2. [2]
      Craniosynostosis: Neonatal Perspectives. — Bautista G NeoReviews (2021)
    3. [3]
      Autopsy Case of Pfeiffer Syndrome Type 2, a Phenotype of Fibroblast Growth Factor Receptor-Associated Craniosynostosis Syndromes, with Tracheal Cartilage Sleeve and Abnormal Hyperplasia of Bronchial Cartilages. — Katsuragi SY, Hirose E, Arai Y, Otsuki Y, Ohki S, Kobayashi H The American journal of case reports (2021)
    4. [4]
      Genetic bases of craniosynostoses: An update. — Armand T, Schaefer E, Di Rocco F, Edery P, Collet C, Rossi M Neuro-Chirurgie (2019)
    5. [5]
      ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome. — Glass GE, O'Hara J, Canham N, Cilliers D, Dunaway D, Fenwick AL et al. American journal of medical genetics. Part A (2019)
    6. [6]
      Intraoperative Management by a Craniofacial Team Anesthesiologist is Associated With Improved Outcomes for Children Undergoing Major Craniofacial Reconstructive Surgery. — Reddy SK, Patel RS, Rogers GF, Gordish-Dressman H, Keating RF, Pestieau SR The Journal of craniofacial surgery (2019)
    7. [7]
      Single Suture Synostosis and Isolated Cleft Palate in Non-Apert Syndrome Patients. — Pezas T, Slator R, White N, Lloyd M The Journal of craniofacial surgery (2019)
    8. [8]
      Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution. — Takenouchi T, Sakamoto Y, Sato H, Suzuki H, Uehara T, Ohsone Y et al. American journal of medical genetics. Part A (2018)
    9. [9]
      A Surgical Technique for Management of the Metopic Suture in Syndromic Craniosynostosis. — Prada-Madrid JR, Franco-Chaparro LP, Garcia-Wenninger M, Palomino-Consuegra T, Stanford N, Castañeda-Hernández DA The Journal of craniofacial surgery (2017)
    10. [10]
      Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders. — Bashir RA, Dixit A, Goedhart C, Parboosingh JS, Innes AM, Ferreira P et al. American journal of medical genetics. Part A (2017)
    11. [11]
      Nonsyndromic Craniosynostosis and Associated Abnormal Speech and Language Development. — Naran S, Miller M, Shakir S, Ware B, Camison L, Ford M et al. Plastic and reconstructive surgery (2017)
    12. [12]
      Tracheal cartilaginous sleeve association with syndromic midface hypoplasia. — Stater BJ, Oomen KP, Modi VK JAMA otolaryngology-- head & neck surgery (2015)
    13. [13]
      Quantification of facial skeletal shape variation in fibroblast growth factor receptor-related craniosynostosis syndromes. — Heuzé Y, Martínez-Abadías N, Stella JM, Arnaud E, Collet C, García Fructuoso G et al. Birth defects research. Part A, Clinical and molecular teratology (2014)
    14. [14]
      Muencke syndrome with cleft lip and palate. — Anderson PJ, Snell B, Moore MH The Journal of craniofacial surgery (2013)
    15. [15]
      Pure de novo partial trisomy 6p in a girl with craniosynostosis. — Varvagiannis K, Stefanidou A, Gyftodimou Y, Lord H, Williams L, Sarri C et al. American journal of medical genetics. Part A (2013)
    16. [16]
      Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum. — Janssen A, Hosen MJ, Jeannin P, Coucke PJ, De Paepe A, Vanakker OM American journal of medical genetics. Part A (2013)
    17. [17]
      Tracheobronchial anomalies in syndromic craniosynostosis with 3-dimensional CT image and bronchoscopy. — Fujimoto T, Imai K, Matsumoto H, Sakamoto H, Nakano T The Journal of craniofacial surgery (2011)
    18. [18]
      Fetal intracranial calcification: pseudo-TORCH phenotype and discussion of related phenotypes. — Kulkarni AM, Baskar S, Kulkarni ML, Kulkarni AJ, Mahuli AV, Vittalrao S et al. American journal of medical genetics. Part A (2010)
    19. [19]
      Craniosynostosis in Kabuki syndrome. — Martínez-Lage JF, Felipe-Murcia M, Navarro EG, Almagro MJ, López-Guerrero AL, Pérez-Espejo MA Journal of neurosurgery. Pediatrics (2010)
    20. [20]
      Tracheal cartilaginous sleeve in patients with craniosynostosis syndromes: a meta-analysis. — Lertsburapa K, Schroeder JW, Sullivan C Journal of pediatric surgery (2010)
    21. [21]
      Fontaine-Farriaux syndrome: a recognizable craniosynostosis syndrome with nail, skeletal, abdominal, and central nervous system anomalies. — Castori M, Silvestri E, Pedace L, Marseglia G, Tempera A, Antigoni I et al. American journal of medical genetics. Part A (2009)
    22. [22]
      A population-based study of craniosynostosis in metropolitan Atlanta, 1989-2003. — Boulet SL, Rasmussen SA, Honein MA American journal of medical genetics. Part A (2008)
    23. [23]
      The changing epidemiologic spectrum of single-suture synostoses. — Selber J, Reid RR, Chike-Obi CJ, Sutton LN, Zackai EH, McDonald-McGinn D et al. Plastic and reconstructive surgery (2008)
    24. [24]
      Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. — Van Maldergem L, Siitonen HA, Jalkh N, Chouery E, De Roy M, Delague V et al. Journal of medical genetics (2006)
    25. [25]
      Craniosynostosis anomalies in twins. — van Aalst JA, Schultz G, Eppley BL The Journal of craniofacial surgery (2005)
    26. [26]
      Craniosynostosis: another feature of the 22q11.2 deletion syndrome. — McDonald-McGinn DM, Gripp KW, Kirschner RE, Maisenbacher MK, Hustead V, Schauer GM et al. American journal of medical genetics. Part A (2005)
    27. [27]
      Skull deformities. — Ridgway EB, Weiner HL Pediatric clinics of North America (2004)
    28. [28]
      Craniosynostosis. — Kabbani H, Raghuveer TS American family physician (2004)
    29. [29]
      Muenke syndrome. — Sabatino G, Di Rocco F, Zampino G, Tamburrini G, Caldarelli M, Di Rocco C Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery (2004)
    30. [30]
      Maxillary volume growth in craniosynostosis. — Langford RJ, Sgouros S, Natarajan K, Nishikawa H, Dover MS, Hockley AD Plastic and reconstructive surgery (2003)
    31. [31]
      Management of syndromic craniosynostosis. — Tantipasawasin S, Sinn DP, Ghali GE Atlas of the oral and maxillofacial surgery clinics of North America (2002)
    32. [32]
      Crouzon syndrome: association with absent pulmonary valve syndrome and severe tracheobronchomalacia. — Beck R, Sertie AL, Brik R, Shinawi M Pediatric pulmonology (2002)
    33. [33]
      Fronto-ocular syndrome: newly recognized trigonocephaly syndrome. — Schneider EN, Bogdanow A, Goodrich JT, Marion RW, Cohen MM American journal of medical genetics (2000)
    34. [34]
      Syndromal and nonsyndromal primary trigonocephaly: analysis of a series of 237 patients. — Lajeunie E, Le Merrer M, Marchac D, Renier D American journal of medical genetics (1998)
    35. [35]
      Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome. — Flanagan N, Boyadjiev SA, Harper J, Kyne L, Earley M, Watson R et al. Journal of medical genetics (1998)
    36. [36]
      A longitudinal, statistical study of reoperation rates in craniosynostosis. — Williams JK, Cohen SR, Burstein FD, Hudgins R, Boydston W, Simms C Plastic and reconstructive surgery (1997)
    37. [37]
      Michels syndrome in a Brazilian girl born to consanguineous parents. — Guion-Almeida ML, Rodini ES American journal of medical genetics (1995)
    38. [38]
      Genetic study of nonsyndromic coronal craniosynostosis. — Lajeunie E, Le Merrer M, Bonaïti-Pellie C, Marchac D, Renier D American journal of medical genetics (1995)
    39. [39]
      Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. — Schell U, Hehr A, Feldman GJ, Robin NH, Zackai EH, de Die-Smulders C et al. Human molecular genetics (1995)
    40. [40]
      Genetic heterogeneity among craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p. — Lewanda AF, Cohen MM, Jackson CE, Taylor EW, Li X, Beloff M et al. Genomics (1994)
    41. [41]
      Further delineation of the Baller-Gerold syndrome. — Lin AE, McPherson E, Nwokoro NA, Clemens M, Losken HW, Mulvihill JJ American journal of medical genetics (1993)
    42. [42]
      Natal molars in Pfeiffer syndrome type 3: a case report. — Alvarez MP, Crespi PV, Shanske AL The Journal of clinical pediatric dentistry (1993)
    43. [43]
      Sagittal craniosynostosis, Dandy-Walker malformation, and hydrocephalus: a unique multiple malformation syndrome. — Braddock SR, Jones KL, Superneau DW, Jones MC American journal of medical genetics (1993)
    44. [44]
      Auralcephalosyndactyly: a new hereditary craniosynostosis syndrome. — Kurczynski TW, Casperson SM Journal of medical genetics (1988)
    45. [45]
      Craniosynostosis and hydrocephalus. — Golabi M, Edwards MS, Ousterhout DK Neurosurgery (1987)
    46. [46]
      Cervical spine anomalies in the craniosynostosis syndromes. — Hemmer KM, McAlister WH, Marsh JL The Cleft palate journal (1987)
    47. [47]
      Cloverleaf skull syndrome. — Zuleta A, Basauri L Child's brain (1984)
    48. [48]
      Symptomatic large parietal foramina. — Pang D, Lin A Neurosurgery (1982)
    49. [49]
      The Antley-Bixler syndrome. — Robinson LK, Powers NG, Dunklee P, Sherman S, Jones KL The Journal of pediatrics (1982)
    50. [50]
      Coronal craniostenosis: fetal head constraint as one possible cause. — Graham JM, Badura RJ, Smith DW Pediatrics (1980)
    51. [51]
      The Kleeblattschädel anomaly. — Eaton AP, Sommer A, Sayers MP Birth defects original article series (1975)
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