Abstract
Hipokondroplazi, klinik ve radyolojik olarak akondroplaziye benzer ancak
daha hafif bulgularla seyreden bir iskelet displazisi tipidir. İlk olarak 1969
yılında Beals tarafından tanımlanmıştır. Yedi aylık erkek hasta bize solunum
sıkıntısı ve kas güçsüzlüğü şikayetiyle başvurdu, solunum yetmezli-
ği tespit edilen hasta entübe edilip mekanik ventilatörde izlendi. İskelet
displazisi bulguları taşıyan olgumuz klinik ve radyolojik olarak hipokondroplazi
tanısı aldı. Hipotonisitesi nedeniyle çekilen beyin MR’ında spinal
kord basısı yapan ileri derecede foramen magnum darlığı tespit edildi ve
cerrahi olarak dekomprese edildi. Operasyon sonrası ikinci gün ekstübe
edildi. Hastamızın mevcut solunum sıkıntısı ve hipotonisitesi spinal kanal
darlığına bağlandı. Yayınlarda klinik olarak bulgu veren foramen magnum
darlığı akondroplazi ile birlikte sık bildirilirken, hipokondroplazi ile birlikte
bildirilen vakaya rastlamadık. Bu olgu ile solunum sıkıntısı ve/veya hipotonisite
ile gelen, iskelet displazisi bulguları olan hastalarda spinal kanal ve
foramen magnumun görültülenmesi gerektiğini vurgulamak istedik.
References
- Oberklaid F, Danks DM, Jensen F, Stace L, Rosshandler S. Achon- droplasia and hypochondroplasia. Comments on frequency, mu- tation rate, and radiological features in skull and spine. J Med Genet 1979;16:140-6. [CrossRef]
- Beals RK. Hypochondroplasia. A report of five kindreds. J Bone Joint Surg Am 1969;51-A:728-36.
- Wynne-Davies R, Walsh WK, Gormley J. Achondroplasia and hypochondroplasia. Clinical variation and spinal stenosis. Bone Joint Surg Br 1981;63:508-15.
- Prinster C, Del Maschio M, Beluffi G, Maghnie M, Weber G, Del Maschio A. Diagnosis of hypochondroplasia: the role of radiolog- ical interpretation. Italian Study Group for Hypochondroplasia. Pediatr Radiol 2001;31:203-8. [CrossRef]
- Jha RM, Klimo P, Smith ER. Foramen magnum stenosis from over- growth of the opisthion in a child with achondroplasia. Neuro- surg Pediatrics 2008;2:136-8. [CrossRef]
- Ryken TC, Menezes AH. Cervicomedullary compression in achon- droplasia. J Neurosurg 1994;81:43-8. [CrossRef]
- Rimoin DL. Cervicomedullary junction compression in infants with achondroplasia: when to perform neurosurgical decompres- sion. Am J Hum Genet 1995;56:1501-227.
- Yamada H, Nakamura S, Tajima M, Kageyama N. Neurologi- cal manifestations of pediatric achondroplasia. J Neurosurg 1981;54:49-57. [CrossRef]
- Rynods KK, Modaff P, Pauli RM. Absence of cerelation between infantile hypotonia and foramen magnum size in achondroplasia. Am J of Med Genetics 2001;101:40-5. 343 2011; 28: 341-3 Aşılıoğlu ve ark.
- Foramen Magnum Darlığı Olan Hipokondroplazi Olgusu
Abstract
Hypochondroplasia was first reported in the English literature by Beals
(1969). The features are similar to those of achondroplasia but are less severe
and are usually reported not to involve the skull. The foramen magnum
and whole spinal canal are reduced in diameter in achondroplasia,
but less so in hypochondroplasia. In this study, we present an unique
case of a seven month old child with hypochondroplasia with symptomatic
foramen magnum stenosis which required surgical decompression. This
7-month-old child with hypochondroplasia presented with hypotonia and
severe respiratory disabilities, including apneic episodes requiring continuous
positive airway pressure. Magnetic resonance imaging revealed
marked foramen magnum stenosis. Foramen magnum decompression
was performed. Postoperatively, steady motor improvement has been observed
and the patient no longer requires ventilatory support. To the our
knowledge, this is the first report of hypochondroplasia and symptomatic
foramen magnum stenosis. In this case we wish to emphasize the necessity
of the radiological imaging of foramen magnum and spinal cord for the
patient who has respiratory distress and hypotonia with skeletal dysplasia.
References
- Oberklaid F, Danks DM, Jensen F, Stace L, Rosshandler S. Achon- droplasia and hypochondroplasia. Comments on frequency, mu- tation rate, and radiological features in skull and spine. J Med Genet 1979;16:140-6. [CrossRef]
- Beals RK. Hypochondroplasia. A report of five kindreds. J Bone Joint Surg Am 1969;51-A:728-36.
- Wynne-Davies R, Walsh WK, Gormley J. Achondroplasia and hypochondroplasia. Clinical variation and spinal stenosis. Bone Joint Surg Br 1981;63:508-15.
- Prinster C, Del Maschio M, Beluffi G, Maghnie M, Weber G, Del Maschio A. Diagnosis of hypochondroplasia: the role of radiolog- ical interpretation. Italian Study Group for Hypochondroplasia. Pediatr Radiol 2001;31:203-8. [CrossRef]
- Jha RM, Klimo P, Smith ER. Foramen magnum stenosis from over- growth of the opisthion in a child with achondroplasia. Neuro- surg Pediatrics 2008;2:136-8. [CrossRef]
- Ryken TC, Menezes AH. Cervicomedullary compression in achon- droplasia. J Neurosurg 1994;81:43-8. [CrossRef]
- Rimoin DL. Cervicomedullary junction compression in infants with achondroplasia: when to perform neurosurgical decompres- sion. Am J Hum Genet 1995;56:1501-227.
- Yamada H, Nakamura S, Tajima M, Kageyama N. Neurologi- cal manifestations of pediatric achondroplasia. J Neurosurg 1981;54:49-57. [CrossRef]
- Rynods KK, Modaff P, Pauli RM. Absence of cerelation between infantile hypotonia and foramen magnum size in achondroplasia. Am J of Med Genetics 2001;101:40-5. 343 2011; 28: 341-3 Aşılıoğlu ve ark.
- Foramen Magnum Darlığı Olan Hipokondroplazi Olgusu
Details
| Primary Language | Turkish |
|---|---|
| Subjects | Health Care Administration |
| Journal Section | Articles |
| Authors | |
| Publication Date | March 1, 2011 |
| Published in Issue | Year 2011 |