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Year : 2008  |  Volume : 3  |  Issue : 2  |  Page : 169-171

Chiari III malformation with hypertelorism and microcephaly in a neonate: Case report and a review of the literature

Department of Neurosurgery, Sanjay Gandhi Postgraduate institute of Medical Sciences, Lucknow - 226 014, India

Correspondence Address:
Sanjay Behari
Department of Neurosurgery, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow - 226014
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/1817-1745.43652

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Chiari III malformation is an extremely rare anomaly characterized by low occipital and high cervical encephalocele with herniation of posterior fossa contents, that is, the cerebellum and/or the brainstem, occipital lobe, and fourth ventricle. We report the case of Chairi III malformation in a neonate with associated hypertelorism and microcephaly, discuss the etipopathogenetic and radiological features, and review the pertinent literature. The neonate, a two-day-old child, with Chairi-III malformation had a large low occipital and cervical osseous defect with nearly a nonexistent posterior fossa due to the herniation of the cerebellum and a part of the occipital lobe into the large encephalocele sac. The patient also had associated microcephaly and hypertelorism without hydrocephalus. The existence of significant, viable neural tissue within the encephalocele sac precluded any surgical intervention. In our patient, it is proposed that during early embryogenesis, incomplete distension of the telencephalic and the rhombencephalic ventricles resulted in Chiari III malformation (based upon unifying theory of embryogenesis of McLone and Knepper) with a large encephalocele containing major portions of cerebellum and occipital lobe, and left the chondrocranium without an adequate inductive force of the underlying neural mass. The skull was, therefore, microcephalic and the posterior fossa virtually nonexistent. Hypertelorism also resulted from failure of eyes to completely rotate forward during fetal life owing to the presence of this large posterior encephalocele and the absence of neural cues for the chondrocranial expansion. To the best of the authors' knowledge, the association of Chairi-III malformation with microcephaly and hypertelorism has not been previously reported.

Keywords: Chiari III malformation, craniovertebral junction anomalies, hypertelorism, microcephaly

How to cite this article:
Garg K, Malik N, Jaiswal AK, Behari S. Chiari III malformation with hypertelorism and microcephaly in a neonate: Case report and a review of the literature. J Pediatr Neurosci 2008;3:169-71

How to cite this URL:
Garg K, Malik N, Jaiswal AK, Behari S. Chiari III malformation with hypertelorism and microcephaly in a neonate: Case report and a review of the literature. J Pediatr Neurosci [serial online] 2008 [cited 2022 Oct 6];3:169-71. Available from: https://www.pediatricneurosciences.com/text.asp?2008/3/2/169/43652

   Introduction Top

Chiari III malformation is the rarest of the three classes of hindbrain anomalies described by Chiari in 1891 [1] and is associated with an occipital and/or upper cervical encephalocele that may contain occipital, cerebellar, brainstem, or upper cervical neural tissue. [2],[3],[4],[5],[6] Other associated anomalies may include hydrocephalus, tectal beaking, medullary kinking, a small posterior fossa, low-lying transverse sinuses, heart-shaped incisura, hypoplastic tentorial cerebelli, fenestrated falx cerebelli, concave clivus and petrous bone, syringomyelia, and corpus callosal dysgenesis. [3],[7],[8],[9],[10] To the best of our knowledge, 30 cases of Chiari III malformations have been reported till date with their age ranging from newborn to 16 years. [2],[3],[4],[5],[6],[7],[8],[9],[10],[11],[12],[13],[14],[15],[16],[17],[18],[19] We report the case of Chairi-III malformation in a neonate with associated hypertelorism and microcephaly, discuss the etipopathogenetic and radiological features, and review the pertinent literature.

   Case Report Top

This two-day-old male child (weight 2.3 kg) was a full-term normal delivery, born of nonconsanguineous parents. He had microcephaly with small, lax and open anterior and posterior fontanelles. The coexisting large occipital and upper cervical encephalocele was 6 X 4 cm in size, fluctuant, nontender, nonpulsatile, and only partially transilluminant. The skin over the swelling was normal [Figure 1A] and [Figure 1B]. He also had hypertelorism with the canthal index (i.e. the percentage ratio of inner canthal distance to the outer canthal distance which is normally 38 in male and 38.5 in female patients) [20] of 42 [Figure 1A]. He was, however, taking feeds adequately, had a good respiratory effort, and was moving limbs spontaneously and symmetrically. The tone in the limbs and reflexes were normal. There was no nystagmus, retrocollis, or postural abnormality. There was neither any history of any medicinal intake (including iron and folic acid supplementation) nor any evidence of any maternal infection during pregnancy. His magnetic resonance imaging (MRI) revealed an occipital and cervical (the dysraphic defect reaching till lower cervical vertebral bodies) encephalocele with herniation of a major portion of the occipital and cerebellar contents into it. There was no associated hydrocephalus or syringohydromyelia [Figure 2A],[Figure 2B],[Figure 2C]. In view of the grave prognosis, the parents refused intervention and have opted to wait until further assessment regarding his social and language milestones is possible.

   Discussion Top

Our patient represents one of the youngest reported cases, being only two-days old. [2-20] He had several unique features. The encephalocele contents included a large part of the occipital lobe and cerebellum and therefore, also the torcular region with confluence of the venous sinuses. The posterior fossa was virtually nonexistent and the cerebellovermian region, the midbrain, and parts of the occipital lobes had herniated through an osseous defect of the inferior occipital bone and posterior elements of nearly the entire cervical spine and were below the basion-opisthion line. The consequent microcephaly validates the unifying theory of embryogenesis for Chiari-II and -III formation. [21],[22] According to this theory, an open neural placode allows cerebrospinal fluid (CSF) to escape from the central canal of the caudal neural tube. The interference with adequate enlargement of the telencephalic and rhombencephalic ventricles causes less support for the telencephalic hemisphere (resulting in disorganized migration of neurons from the ventricular zone, producing cortical heterotopias, gyral anomalies, and callosal dysgenesis) and the rhombencephalon (influencing cerebellar and brainstem development), respectively. The growth and development of the chondocranium are normally dependent upon cues provided by expansion of the underlying neural mass (the developing brain and ventricular system) during early embryogenesis. [21],[22] In our patient, the embryological dynamics that resulted in Chiari III malformation and the consequent displacement of the contents of the posterior fossa contents into the encephalocele sac, also led to incomplete distension of the telencephalic and the rhombencephalic ventricles and left the chondrocranium without an adequate inductive force. The skull was, therefore, microcephalic and the posterior fossa virtually nonexistent. Due to the wide opening of the encephalocele sac, the neural tissue was not impacted and the CSF flow through the foramen of Luschka and Magendi was not impaired. Thus, hydrocephalus did not develop. [21]

Hypertelorism is a rare abnormality characterized by an increased interorbital distance. [23] During embryonic development, the eyes initially separate from the diencephalon as diverticulae and migrate to the lateral portion of the head. As the face matures, the eyes rotate forward, reducing the orbital angle from 180 degrees to 71 degrees by birth and to 68 degrees by maturity. [20],[23],[24] Hypertelorism may result from either failure of the forward migration or from its obstruction by congenital malformation such as an anterior encephalocele. [24] In our patient, the herniation of the occipital lobe and the contents of the posterior fossa into the large posterior encephalocele sac probably resulted in a failure of the forward migration of the eyes to normal position. The canthal index [20] was abnormally high in our patient. Normally, a vertical line from the pupils falls over the outer aspect of the lips; and, that from the medial canthus touches the alar base of the nose. [23] In our patient, both these vertical lines were falling far lateral to the above mentioned anatomical landmarks confirming hypertelorism.

Chiari III malformation usually has a dismal prognosis with most reports stating an early death and severe disability. [6],[13] Raimondi, however, has stated that occasionally, elements in the encephalocele sac are necrotic, gliotic, or may represent heteropia or meningeal fibrosis and therefore, are amenable to excision without increasing neurological deficits. [25] Sometimes, Chiari III malformation may be associated with large CSF spaces within the encephalocele sac that may be drained. [2],[6],[13] The operative options for repair include resection of the nonviable contents of the sac to permit primary closure of the skin, [8] a CSF diversion for hydrocephalus, [13] or CSF diversion with delayed closure in case viable tissue is present within the defect. [17] In our patient, a major portion of both the viable occipital lobe and cerebellum had prolapsed into the encephalocele sac. There was neither associated hydrocephalus nor cystic contents within the sac. Fluid diversion for sac volume reduction, therefore, was not an option. None of the operative strategies were possible without the risk of causing severe neurological deficits. On explaining the immediate risk of surgery and the long-term prognosis regarding the possibility of mental and psychomotor retardation in the child, the parents opted to be on regular follow up with rehabilitative rather than surgical intervention.

   References Top

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23.Ward-Booth P. Congenital and acquired periorbital skeletal anomalies. In: Easty DL, Sparrow JM, editors. Oxford textbook of ophthalmology. New York: Oxford Univeristy Press, Inc; 1999. p. 792-800.  Back to cited text no. 23    
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25.Raimondi AJ. Pediatric neuroradiology. Philadelphia: WB Saunders and Company; 1972. p. 275-343.  Back to cited text no. 25    


  [Figure 1A], [Figure 1B], [Figure 2A], [Figure 2B], [Figure 2C]

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