Literature DB >> 15133703

Isolated atlantal stenosis in a patient with idiopathic growth hormone deficiency, and Klippel-Feil and Duane's syndromes.

R Shane Tubbs1, W Jerry Oakes, Jeffrey P Blount.   

Abstract

OBJECTIVE AND IMPORTANCE: Isolated atlantal stenosis is very rare with less than ten cases reported, mostly in adult Asians; however, this pathology should be recognized by the neurosurgeon. An unusual case of this rare clinical entity is reported in conjunction with multiple other anomalies. CLINICAL
PRESENTATION: We report a Caucasian girl with symptomatic stenosis of the first cervical vertebrae who presented with episodes of loss of tone with subsequent falling, facial cyanosis, urinary incontinence, hand weakness, and difficulties with swallowing. This patient also had the diagnoses of Duane's and Klippel-Feil syndromes, and idiopathic growth hormone deficiency. In addition, this patient was found to have retroflexion of the odontoid process, which further compromised the spinal canal. Flexion-extension radiographs failed to identify cervical spine instability. INTERVENTION: Following suboccipital craniectomy and the removal of the posterior arch of the atlas, the patient's symptoms were resolved and her urinary incontinence improved.
CONCLUSIONS: We theorize that our case represents a variant of Wildervanck syndrome. Further case reports are necessary to verify that isolated atlantal stenosis is a component of this constellation of findings. Furthermore, our case demonstrates that degenerative changes of the spine are not necessary for the production of symptoms in cases of isolated stenosis of the atlas.

Entities:  

Mesh:

Year:  2004        PMID: 15133703     DOI: 10.1007/s00381-004-0968-5

Source DB:  PubMed          Journal:  Childs Nerv Syst        ISSN: 0256-7040            Impact factor:   1.475


  27 in total

1.  [A case of Klippel-Feil's syndrome with abducens paralysis; retraction of the eyeball and deaf-mutism].

Authors:  L S WILDERVANCK
Journal:  Ned Tijdschr Geneeskd       Date:  1952-11-01

2.  A case of cervical myelopathy with developmental canal stenosis at the level of the atlas. A case report.

Authors:  K Okamoto; M Sumi; M Ikeda; S Sawamura; O Kataoka
Journal:  Kobe J Med Sci       Date:  1998-06

3.  Craniovertebral abnormalities in Type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome).

Authors:  J A Thorne; M Javadpour; D G Hughes; E Wraith; R A Cowie
Journal:  Neurosurgery       Date:  2001-04       Impact factor: 4.654

4.  Anomaly of arch of atlas--a rare cause of symptomatic canal stenosis in children.

Authors:  B I Devi; S N Shenoy; M K Panigrahi; B A Chandramouli; B S Das; P N Jayakumar
Journal:  Pediatr Neurosurg       Date:  1997-04       Impact factor: 1.162

5.  Cervical diastematomyelia in cervico-oculo-acoustic (Wildervanck) syndrome: MRI findings.

Authors:  Sevim Balci; Kader Karli Oguz; M Murat Firat; Koray Boduroglu
Journal:  Clin Dysmorphol       Date:  2002-04       Impact factor: 0.816

6.  Duane's syndrome and giant parietal foramina.

Authors:  R Shane Tubbs; Kyle Doughty; W Jerry Oakes; John C Wellons
Journal:  Pediatr Neurol       Date:  2004-01       Impact factor: 3.372

7.  Children with growth hormone deficiency and Chiari I malformation: a morphometric analysis of the posterior cranial fossa.

Authors:  R Shane Tubbs; John C Wellons; Matthew D Smyth; Alfred A Bartolucci; Jeffrey P Blount; W Jerry Oakes; Paul A Grabb
Journal:  Pediatr Neurosurg       Date:  2003-06       Impact factor: 1.162

8.  A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene.

Authors:  C Vincent; V Kalatzis; S Compain; J Levilliers; R Slim; F Graia; M L Pereira; A Nivelon; M F Croquette; D Lacombe
Journal:  Hum Mol Genet       Date:  1994-10       Impact factor: 6.150

9.  Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.

Authors:  Raidah Al-Baradie; Koki Yamada; Cynthia St Hilaire; Wai-Man Chan; Caroline Andrews; Nathalie McIntosh; Motoi Nakano; E Jean Martonyi; William R Raymond; Sada Okumura; Michael M Okihiro; Elizabeth C Engle
Journal:  Am J Hum Genet       Date:  2002-10-22       Impact factor: 11.025

10.  Hypothalamo-pituitary axis by magnetic resonance imaging in isolated growth hormone deficiency patients born by normal delivery.

Authors:  R Marwaha; P S Menon; A Jena; C Pant; A K Sethi; M L Sapra
Journal:  J Clin Endocrinol Metab       Date:  1992-03       Impact factor: 5.958

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  4 in total

1.  Ossification of the posterior atlantoaxial membrane associated with atlas hypoplasia: A case report.

Authors:  Yichen Meng; Dongxiao Zhou; Rui Gao; Jun Ma; Ce Wang; Xuhui Zhou
Journal:  Medicine (Baltimore)       Date:  2016-11       Impact factor: 1.889

2.  "Dynamic" Rotational Canal Stenosis Caused by Osteoma of the Atlas: A Case Report and Review of Literature.

Authors:  Kohei Kanaya; Kiyoshi Ito; Tetsuyoshi Horiuchi; Kazuhiro Hongo
Journal:  NMC Case Rep J       Date:  2015-09-11

3.  Atlas hypoplasia and ossification of the transverse atlantal ligament: a rare cause of cervical myelopathy.

Authors:  Rakan Bokhari; Saleh Baeesa
Journal:  Case Rep Neurol Med       Date:  2012-12-05

4.  Unilateral lateral mass hypertrophy: An extremely rare congenital anomaly of atlas.

Authors:  Kuntal Kanti Das; Anant Mehrotra; Rabi Narayan Sahu; Arun Kumar Srivastava; Awadhesh Kumar Jaiswal; Sanjay Behari
Journal:  J Craniovertebr Junction Spine       Date:  2013-07
  4 in total

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