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 Table of Contents  
Year : 2021  |  Volume : 1  |  Issue : 1  |  Page : 151-153

Craniosynostosis, osteopetrosis, and Arnold-Chiari malformation type 1 – Ophthalmic manifestations: A rare case report

1 Miriam Hyman Children's Eye Care Centre, MTC Campus, L V Prasad Eye Institute, Patia, Bhubaneswar, Odisha, India
2 Department of Ophthalmology, MGM Medical College, Kishanganj, Bihar, India
3 Department of General Medicine, L V Prasad Eye Institute, Bhubaneswar, Odisha, India

Date of Submission09-May-2020
Date of Acceptance24-Jul-2020
Date of Web Publication31-Dec-2020

Correspondence Address:
Dr. Vivekanand Uttamrao Warkad
Miriam Hyman Children's Eye Care Centre, L V Prasad Eye Institute, MTC Campus, Patia, Bhubaneswar - 751 024, Odisha
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijo.IJO_1408_20

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We report an interesting rare case of a child with a constellation of craniosynostosis (CS), osteopetrosis (OP), and Arnold-Chiari malformation type 1 (ACM1), presenting with developmental delay and progressive vision loss since infancy with normal intellect. The ophthalmic examination revealed bilateral advanced visual loss, bilateral proptosis, optic atrophy, and large angle esotropia in primary gaze. A systemic examination revealed facial dysmorphism, abnormal shape of the head, malunion fracture of the right arm, and scoliosis. Neuroimaging revealed features suggestive of CS, OP, and ACM-1. Neurosurgical consultation was sought, and the ventriculoperitoneal shunt was advised.

Keywords: Arnold-Chiari malformation type 1 (ACM1), craniosynostosis (CS), osteopetrosis (OP)

How to cite this article:
Warkad VU, Alam D, Majhi D, Panigrahy B. Craniosynostosis, osteopetrosis, and Arnold-Chiari malformation type 1 – Ophthalmic manifestations: A rare case report. Indian J Ophthalmol Case Rep 2021;1:151-3

How to cite this URL:
Warkad VU, Alam D, Majhi D, Panigrahy B. Craniosynostosis, osteopetrosis, and Arnold-Chiari malformation type 1 – Ophthalmic manifestations: A rare case report. Indian J Ophthalmol Case Rep [serial online] 2021 [cited 2021 Mar 6];1:151-3. Available from: https://www.ijoreports.in/text.asp?2021/1/1/151/305484

Craniosynostosis (CS) is a term used to describe the premature closure of cranial sutures, which leads to the cessation of growth perpendicular to the line of the sutures and is accompanied by compensatory growth in other areas of the skull.[1] It has been classified as either single suture or multiple sutures, or through its association with or without syndromes.

Osteopetrosis (OP) is an inherited bone disease characterized by thick, dense, and fragile bones due to osteoclastic dysfunction owing to the deposition of immature bones.[2]

The  Arnold- Chiari malformation More Details More Details (ACM) type I is characterized by herniation of the cerebellar tonsils through the foramen magnum.[3] It manifests with neurologic symptoms during early adulthood.

There are reports of clinical features of CS in association with OP and ACM,[4],[5] and also as an isolated report of OP and ACM.[6]

Although the combination of CS, ACM 1, and the OP has been reported twice,[7],[8] in a very young child from Saudi Arabia focusing on its neurological features, herein, we report the first case with detailed ophthalmic manifestation in a teenager from India.

  Case Report Top

A 15-year-old boy presented to the outpatient clinic with the chief complaints of loss of vision since early childhood and elongated shape of head since birth. The parents had noted the progressive loss of vision from around 3 years of age. There were no other ocular complaints. Birth history was suggestive of full-term home delivery that was slightly prolonged and needed forceful manipulation. In addition to his presenting symptoms, he had an occasional slurring of speech and headaches.

No medical advice was sought for several years until he had a fracture in his right arm following trivial trauma at the age of 13 years. At this time, he was diagnosed as osteopetrosis by the treating physician.

A general examination revealed scaphocephaly associated with prominent forehead (frontal bossing), telecanthus, flattening of mid-face, and protrusion of the eyeball (exorbitism), midfacial hypoplasia, pectus carinatum, scoliosis, and malunion of fracture humerus [Figure 1].
Figure 1: General examination (a) Antero-posterior elongation of the head (Scaphocephaly), (b) Bossing of the frontal bone with the depressed nasal bridge, (c) Malunion of fracture humerus, (d) Pectus carinatum, (e) Scoliosis

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An ocular examination with best-corrected visual acuity (BCVA) in the right eye revealed no perception of light (NPL) and hand motion (HM) in the left eye. Cycloplegic refraction in both eyes was -1.00 D Sphere/- 0.50 D Cylinder at 45-degree. The presence of nystagmoid movements was noted along with bilateral abduction deficit [Figure 2]a that was more pronounced on the right. Hirschberg's test (HBT), revealed a 30-degree esotropia.
Figure 2: Clinical photograph depicting ocular motility and fundus photograph (a) Standard +9 gaze clinical photograph, (b) Bilateral optic atrophy

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Anterior segment (AS) examination was unremarkable except for bilateral proptosis and the presence of bilateral afferent pupillary defect (APD). The fundus examination revealed clear media, diffuse disc pallor, and tortuosity of vessels with attached retina in both eyes [Figure 2]b.

The evaluation by internist revealed findings mentioned in the general examination, and neurological examination confirmed developmental delay but no other focal findings. Computed tomography (CT) scan of the brain showed the presence of sclerotic skull bones and cervical vertebrae with craniosynostosis of the sagittal suture. A magnetic resonance imaging (MRI) of the brain without contrast revealed calvarial thickening, stretching of the corpus callosum, dilated lateral, and the fourth ventricle with communicating hydrocephalous, small posterior fossa with Type I ACM and distended bilateral retrobulbar optic nerve sheath [Figure 3].
Figure 3: MRI brain without contrast depicting radiological signs of CS, OP, and ACM 1 (a) Calvarial thickening (yellow line), Stretching of corpus callosum (curved blue line) (b) Dilated lateral and fourth ventricle (Orange line) (c) Herniation of cerebellum in foramen magnum-type 1 ACM (single blue arrow) and sclerotic changes in cervical vertebrae (multiple blue arrows)

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This is a case of CS with type 1 ACM and OP that had optic atrophy (OA), incomitant strabismus, and proptosis on ophthalmology examination. The parents were counseled regarding his findings. Visual rehabilitation was challenging. He received further education through braille medium with audio mode, special training in orientation and mobility, and service for the blind for sight enhancement. Neurosurgical consultation was sought on an urgent basis, and a ventriculoperitoneal shunt was advised given the cerebellar tonsillar herniation.

  Discussion Top

This case report of a rare constellation of CS, OP, and ACM-1 highlights ophthalmic features such as optic atrophy, incomitant strabismus, and proptosis along with its neuro-radiological findings.

The child had bilateral optic atrophy, which was likely to be compressive due to optic canal narrowing as a part of osteopetrosis or from increased intracranial pressure (ICP). His esotropia was likely from bilateral sixth nerve palsy secondary to raised ICT or compression of the sixth cranial nerve at narrowed superior orbital fissure due to osteopetrosis. Bilateral proptosis is due to shallow orbits and reduced orbital volume as a part of midfacial dysmorphism and thickening of the orbital bones in OP.

CS in this child was a single suture non-syndromic variant (sagittal suture type) with features of scaphocephaly and facial dysmorphism (frontal bossing, flattening of mid-face, and telecanthus), and resulted from premature fusion of the sagittal suture.

Jamjoon et al. reported a similar case to ours, with late presentation beyond 3 years of age, increased ICP, and a combination of CS, OP, and ACM1,[7] but with persistent open anterior fontanelle. Our case, however, presented with closed fontanelle.

Type 1 ACM and hydrocephalus are known to share a cause-effect relationship.[9] Our case showed radiological evidence of it and presented with occasional without features of brainstem compression. Only one similar case of type 1 ACM with OP has been reported by Kulkarni et al.,[6] which presented with the manifestations of brain stem compression.

The combination of OP with type 1 ACM has been reported previously by Dlouhy et al.[4] Our patient also showed evidence of osteopetrosis in the form of malunion of the fractured humerus, sclerosed cervical vertebrae, and thickened calvarial bones.

We could not do genetic testing due to economic constraints. However, this combination of CS, OP, and ACM 1 has been associated with novel mutation homozygous in the OSTEM1 gene, as reported by Mahmoud Adel et al.[8]

  Conclusion Top

Our report highlights a rare combination of optic atrophy, bilateral asymmetrical sixth nerve palsy, and proptosis in a rare constellation of three disease entities; non-syndromic CS, OP, and a life-threatening type 1 ACM. Its evaluation and management require a multidisciplinary approach.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Persing JA, Jane JA, Shaffrey M. Virchow and the pathogenesis of craniosynostosis: A translation of his original work. Plast Reconstr Surg 1989;83:738-42.  Back to cited text no. 1
Stark Z, Savarirayan R. Osteopetrosis. Orphanet J Rare Dis 2009;4:5.  Back to cited text no. 2
Dure LS, Percy AK, Cheek WR, Laurent JP. Chiari type I malformation in children. J Pediatr 1989; 115:573-6.  Back to cited text no. 3
Dlouhy BJ, Menezes AH. Osteopetrosis with Chiari I malformation: Presentation and surgical management. J Neurosurg Pediatr 2011;7:369-74.  Back to cited text no. 4
Leikola J, Haapamäki V, Karppinen A, Koljonen V, Hukki J, Valanne L, et al. Morphometric comparison of foramen magnum in non-syndromic craniosynostosis patients with or without Chiari I malformation. Acta Neurochir (Wien) 2012;154:1809-13.  Back to cited text no. 5
Kulkarni ML, Marakkanavar SN, Sushanth S, Pradeep N, Ashok C, Balaji MD, et al. Osteopetrosis with Arnold Chiari malformation type I and brain stem compression. Indian J Pediatr 2007;74:412-5.  Back to cited text no. 6
Jamjoom AA, Jamjoom BA, Waliuddin AR, Jamjoom AB. Lessons from a case of osteopetrosis oxycephaly and Chiari type I malformation: A case report. Cases J 2009;2:6787.  Back to cited text no. 7
Mahmoud Adel AH, Abdullah AA, Eissa F. Infantile osteopetrosis, craniosynostosis, and Chiari malformation type I with novel OSTEM1 mutation. J Pediatr Neurosci 2013;8:34-7.  Back to cited text no. 8
[PUBMED]  [Full text]  
Aitken LA, Lindan CE, Sidney S, Gupta N, Barkovich AJ, Sorel M, et al. Chiari Type 1 malformation in a pediatric population. Pediatr Neurol 2009;40:449-54.  Back to cited text no. 9


  [Figure 1], [Figure 2], [Figure 3]


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