A Newborn Infant with Tachypnea

  • Linh Ha Texas Tech University Health Sciences Center
  • Tetyana Vasylyeva Texas Tech University Helath Sciences Center
Keywords: , Jourbert syndrome, newborn, tachypnea.

Abstract

The paper presents a case of rare disease – Joubert syndrome, in a patient from Guatemala. The patient presentation characterized by persistent periodic tachypnea in newborn period, which eventually lead to the diagnosis. The disease has multiorgan involvement with the major impacts on brain and kidney. Early recognition of that rare disorder might substantially impacts treatment and outcome. The management of Joubert syndrome requires multidisciplinary team.

References

REFERENCES

Jourbert M, Eisenring JJ, Robb JP, Andermann F. Familial agenesis of the cerebellar vermis: A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. J Child Neurol. 1969; 19:813-825. DOI:10.1177/088307389901400902

Salman MS, Maria BL. In: Maria BL. Current Management in Child Neurology. Shelton, CT: People’s Medical Publishing House; 2009:576-577.

Parisi MA, Doherty D, Chance PF, Glass TA. Joubert syndrome and related disorders. Eur J Hum Genet. 2007;15:511-521. DOI:10.1038/sj.ejhg.5201648

Maria BL, Boltshauser E, Palmer SC, Tran TX. Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol.

;14:583. DOI:10.1177/088307389901400906

Harris PC. Genetic complexity in Joubert syndrome and related disorders. Kidney Int. 2007;72:1421-1423. DOI: 10.1038/sj.ki.5002577

Sampathkumar K, Sooraj YS, Karunakaran N, Ganesh R, Mahaldar AR. Joubert syndrome. Kidney Int. 2008;74:1222. DOI:10.1038/ki.2008.339

Ní Scanaill S, Crowley P, Hogan M, Stuart B. Abnormal prenatal sonographic findings in the posterior cranial fossa: a case of Joubert's syndrome. Ultrasound Obstet Gynecol. 1999;13(1):71-4. DOI:10.1046/j.1469-0705.1999.13010071.x

Hodgkins PR, Harris CM, Shawkat FS, Thompson DA, Chong K, Timms C, Russell-Eggitt I, Taylor DS, Kriss A. Joubert syndrome: long term follow up. Dev Med Child Neurol. 2004;46(10):694–699.

Van Beek EJ, Majoie CB. Case 25: Joubert syndrome. Radiology. 2000;216(2):379-382. DOI: 10.1148/radiology.215.1.r00ap23235

Published
2019-10-25
How to Cite
Ha, L., & Vasylyeva, T. (2019). A Newborn Infant with Tachypnea. International Journal of Integrative Pediatrics and Environmental Medicine, 4(1), 16 - 19. https://doi.org/10.36013/ijipem.v4i1.59
Section
Articles