medigraphic.com
Boletín Médico del Hospital Infantil de México

2012, Number 1

<< Back Next >>

Bol Med Hosp Infant Mex 2012; 69 (1)

Achondroplasia —spinal canal stenosis—a neurological complication

Hernández-Motiño LC, Sujey BY, Vizcarra V, Cruz RR, Jamaica BL, Karam BJ

Language: Spanish
References: 16
Page: 46-49
PDF size: 289.03 Kb.


ABSTRACT

Background. Achondroplasia (AC) is an autosomal dominant genetic disorder of bone growth with an annual incidence of 1:26,000 births. It is caused by a mutation in the gene encoding the receptor type 3 growth of fibroblast factor (FGFR3) on chromosome 4, which is present in chondrocytes of the growth plate of bones, thus affecting endochondral ossification. It is manifested clinically by short stature with anatomic disproportion, macrocephaly, shortened limbs and skeletal deformities. Neurological complications of AC are the most common cause of morbidity and mortality.
Case report. We report the case of a 5-year-old female patient with achondroplasia who was admitted with a diagnosis of influenza-like illness. Physical examination revealed clonus, hyperreflexia, limb functional limitation, and delayed psychomotor development. During her hospital stay the patient experienced respiratory arrest, necessitating the use of phase III mechanical ventilation, making extubation impossible due to weakness of chest muscles. Cranial computed tomography (CT) and cervical magnetic resonance imaging (MRI) were performed, demonstrating compression of the cervicospinal canal.
Conclusions. Early identification of spinal cord compression and its immediate decompression can help to prevent serious complications, including respiratory failure and sudden death.


REFERENCES

  1. Bagley CA, Pindrik JA, Bookland MJ, Camara-Quintana JQ, Carson BS. Cervicomedullary decompression for foramen magnum stenosis in achondroplasia. J Neurosurg 2006;104(3 suppl):166-172.

  2. Medina J, Espínola de Canata M, González G, Sostoa G. Acondroplasia (AC) y sus complicaciones neurológicas: a propósito de un caso. Pediatr (Asunción) 2008;35:24-28.

  3. Trotter T, Hall J, Committee on Genetics. Health supervision for children with achondroplasia. Pediatrics 2005;116:771-783.

  4. García M, Vaquero M. Acondroplasia. Juicio crítico sobre el manejo de la vía aérea alta. Acta Otorrinolaringol Cirugía Cabeza Cuello 2005;33:48-50.

  5. Pauli RM, Horton VK, Glinski LP, Reiser CA. Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia. Am J Hum Genet 1995;56:732-744.

  6. Sudhir K, Jeevak A, Per-Lennart W. Radiology. Neuroradiology case of the week; case 129. Disponible en: http://www.urmc.rochester.edu/smd/Rad/neurocases/Neurocase129.htm

  7. Ho NC, Guarnieri M, Brant LJ, Park SS, Sun B, North M, et al. Living with achondroplasia: quality of life evaluation following cervico-medullary decompression. Am J Med Genet A 2004;131:163-167. doi: 10.1002/ajmg.a.30342

  8. Schiller O, Schwartz M, Bruckheimer E, Michowitz S, Garty BZ. Pulmonary hypertension in an infant with achondroplasia. Pediatr Neurosurg 2008;44:341-343.

  9. Danielpour M, Wilcox WR, Alanay Y, Pressman BD, Rimoin DL. Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia. Report of four cases. J Neurosurg 2007;107(6 suppl):504-507.

  10. Chandra P, Manocha JP, Dave PK. Achondroplasia with paraplegia. Indian J Orthop 1968;2:12-23.

  11. Gollust SE, Thompson RE, Gooding HC, Biesecker BB. Living with achondroplasia in an average-sized world: an assessment of quality of life. Am J Med Genet A 2003;120A:447-458.

  12. Keiper GL, Koch B, Crone KR. Achondroplasia and cervicomedullary compression: prospective evaluation and surgical treatment. Pediatr Neurosurg 1999;31:78-83.

  13. Fano V, Lejarraga H. Hallazgos frecuentes en la atención clínica de 96 niños con acondroplasia. Arch Argent Pediatr 2000;98:368-375.

  14. Gil Z, Tauman R, Sivan J, Orr-Urtreger A, Constantini S. Neurosurgical aspects in achondroplasia: evaluation and treatment. Harefuah 2001;140:1026-1031.

  15. Thomas IT, Frias JL, Williams JL, Friedman WA. Magnetic resonance imaging in the assessment of medullary compression in achondroplasia. Am J Dis Child 1988;142:989-992.

  16. Rimoin DL. Cervicomedullary junction compression in infants with achondroplasia: when to perform neurosurgical decompression. Am J Hum Genet 1995;56:824-82




2020     |     www.medigraphic.com