Chiari Malformation Type III with Klippel Feil Syndrome
Year: 2025
Type: article
Study design: Case Report
Abstract: A 27-year-old male, hospitalized for viral fever, was incidentally noted to have a midline swelling in the occipital region, which had been present since birth and slowly increased in size. It was cystic in nature, with positive fluctuation and cough impulse. There were no other swellings in the body and no loss of body weight. He also had a low hairline, low set ears and webbed, short neck, and limitation of neck movement and other features suggestive of Klippel Feil syndrome, which have been present since birth [Figure 1a].[1]Figure 1: (a) - Occipital swelling seen along with low set posterior hairline and short neck (features of Klippel Feil syndrome). (b) - Cervical spine X-ray in AP and lateral view showing fusion of cervical vertebrae. (c) - Whole spine screening shows complete fusion of upper cervical vertebrae and syrinx extending from origin of cervical spinal cord up to the level of D6 vertebrae. (d) - MRI showing hypoplastic cerebellum with meningoencephalocele. (e) - MRI sagittal view showing gross hydrocephalus with meningoencephalocele. (f) - MRI showing caudal displacement of cerebellum and brainstem via foramen magnum. (g) - CT showing occipital encephalocoele with herniation of dysplastic cerebellum. (h) - MRI transverse view showing massive dilatation of lateral ventriclesSix months ago, the patient began to have complaints of right upper limb weakness, progressive in nature and confined to proximal muscles, resulting in a mild impairment in day-to-day activities. On neurological examination, he was found to have moderate intellectual disability. Bilateral downbeat nystagmus was present. On motor system examination, there was restriction of movements at the level of cervical spine and bilateral shoulder joints. Mild hypotonia in the right upper limb with prominent right medial scapular border was noted. Bilateral extensor plantar response was noted. Cerebellar system examination revealed past pointing. Feils index was positive, and Birds index was >13. Rest of the examination was normal. X-ray of cervical spine revealed features congruent with Klippel Feil syndrome including straightened curvature of cervical spine with posterior elements of all cervical vertebrae fused [Figure 1b]. CT brain revealed a defect in the occipital bone with a sac-like outpouching through which herniation of dysplastic cerebellum was present suggestive of occipital encephalocele. There was also arrested nonobstructing hydrocephalus with dilated bilateral lateral, third and fourth ventricles and nonvisualization of corpus callosum (agenesis/dysgenesis) [Figure 1g]. MRI brain revealed defect in the occipital bone with sac-like outpouching measuring 4*6*4.8 cm extending up to the subcutaneous plane with herniation of hypoplastic cerebellum and CSF communicating with the fourth ventricle suggestive of occipital meningoencephalocele. Caudal displacement of cerebellum and brainstem through foramen magnum, communicating hydrocephalus with grossly dilated bilateral third and fourth ventricles, was found. Interthalamic adhesions were noted [Figure 1d-h]. On MRI spine (whole spine screening), well-defined central T2 linear hyperintensity in the spinal cord extending from the origin of cervical spinal cord up to the level of T6 vertebra suggestive of syrinx was visualized. Anteriorly flexed fused upper cervical vertebral bodies with partial fusion of cervical and upper thoracic vertebra and complete fusion of posterior elements of cervical vertebrae were noted. Hypoplastic posterior arch of atlas verse was seen. Dextro scoliosis was noted [Figure 1c]. All these features were suggestive of Chiari malformation type III.[2] The coexistence of Chiari malformation III and Klippel Feil syndrome is a rare occurrence that presents a unique insight as to why despite the high early mortality and morbidity rate of Chiari III malformation, this patient shows minimal to no symptoms of the condition at this age, further elucidating the natural history of the disease.[3,4] Patient consent A full and detailed consent from the patient/guardian has been taken. The patient’s identity has been adequately anonymized. If anything related to the patient’s identity is shown, adequate consent has been taken from the patient/relative/guardian. The journal will not be responsible for any medico-legal issues arising out of issues related to patient’s identity or any other issues arising from the public display of the pictures. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.
Source: Neurology India
Institution: JSS Medical College and Hospital
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
OpenAlex ID: W4414537929