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Cranisynostosis A Case Report
Nayana Potdar, HL Trivedi, Chinmaya Sahu, Sujit Murade
 
Abstract
Presenting a case with overlapping features of Crouzon’s and Apert’s syndrome and the associated ocular complications.
 

Introduction
The premature fusion of skull bones with associated congenital deformities of limbs was noted by Apert in 1906 which was described as Apert’s syndrome. Later Crouzon in 1912 described hereditary craniofacial dysostosis, a familial malformation of the face and skull bones.

Case Report
A 15 month old boy, admitted for loose motions and dehydration was referred to Ophthalmic services for evaluation.

Table 1

  Apert’s Crouzon’s Present

Milestones Severely delayed N or delay Delayed
Mental development Severe M.R N or mild Mental Retardation
Stature Short N Short
Head Acrocephaly, Suprooibital
depression
Cecrocephaly Acrocephaly, frontal
bossing
Palate High arched with furrow
in midline, cleft palate
High palate No furrow High arched palate
Ears / Hearing
Hands
Malformed Ears, deafness later
Syndactyly of hands and feet
Low set, deafness early in life
N
Low set ears, deafness
Supernumary toes +
Cervical Spine Fusion C5 - C6 on C3 - C4 Butterfly Vertebrae C2-C3 Spina Bifida
Other System Abnormalities of Heart,
  Lung and Kidney    
X-ray Skull Synostosis Raised ICT. Premature
closure of coronal and
sagittal sutures. Prognathism
Spina Bifida - Lower
vertebrae
CT Scan Hydrocephalus Absent
Corpus Callosum Abnormal
Ventricle and Septum
Pellucidum
No Hydrocephalus
Raised ICT
Dilatation of 3rd and lateral
ventricles, Ballooning of
Fronto-Parietal bones
Ophthalmic Anti- Mongoloid Slant,
Shallow Orbits, Proptosis,
Exotropia, Hypertelorism
Keratoconus, Ectopic Lens,
Glaucoma, Staphyloma
Exophthalmos, Spontaneous
luxation, v Exotropia
Hypertelorism, Nystagmus,
Corneal malformation,
Cataract, Aniridia, Blue
Sclera, Ectopic Lens
Hypertelorism,
Subluxated globes,
Proptosis, Lagophthalmos,
Exposure Keratopathy

O/E
Patient had large head with bulging anterior fontanelle, large distended scalp veins with head lag, frontal prominence, hypertelorism, antimongoloid slant, sparse eye brows and the globe was proptosed with shallow orbit. Ears were low set and the child had hearing loss. The child’s maxilla seemed hypoplastic, he had high arched palate, irregular dentition.

Vision : Child was following light

Conjunctiva, Cornea : Patient had Keratomalacia which was sealed. Rest details were not seen as there was hypotony and all EOM were present.

CNS : There was head lag but no neck holding. Child was irritable. There was generalized muscular atrophy with hypotony and Gr III power in all limbs. The fingers were long, slender (There was a single café au lait spot on left lower limb about 1 x 1 cm).

I and II Cranial nerves couldn’t be tested but 3, 4, 5, 6, 7, 9, 10, 11, 12 seemed to be normal .The child had 8th nerve involvement and did not respond to sound.

RS, CVS, GIT : Nothing abnormal was detected.

His weight was 4.5 kg and height 66 cm only.

Investigation
His counts were low

Hb was 6 gm% with PMNcytosis.

Stools had plenty of RBCs, mucus and bacteriae.

CT scan showed severe dilatation of frontal horn of lateral ventricle and also III ventricle. There was deformity of skull in the form of ballooning of fronto- parietal bones and anterior fontanelle.

Discussion
This patient had overlapping Crouzon’s and Apert’s syndrome features and additional features like spina bifida and supernumary toes. This can be a variant of Apert syndrome (Table 1).

References

  1. Cinalli G, Renier D, Sebag G, Sainte –Rose C, Arnaud E, Pierre – Khan A. “Chiari Malformation in Crouzon syndrome”.
  2. Taylor WJ, Hayward RD, Lasjaunias P, Britto JA, Thompson DN, Jones BM, Evans RD. “Enigma of raised intracranial pressure in patients with complex craniosynostosis : the role of abnormal intracranial venous drainage”.
  3. Rollins N, Booth T, Shapiro K. “MR venography in children with complex craniosynostosis".

SHOULD ALL CHILDREN BE IMMUNISED AGAINST HEPATITIS A?
Given the recent US recommendation for vaccination of all children against hepatitis A, Temte examines the evidence on hepatitis A epidemiology, childhood vaccinations, and issues relating to vaccine policy. The new recommendation is based on strong epidemiological evidence of its effectiveness but is compromised by the reduced prevalence of the virus thanks to the success of targeted vaccination. Temte warns that adding two more injections to an already crowded vaccination schedule may reduce compliance and increase the already high costs but concludes that the recommendation is probably justified.

BMJ, 2006; 332 : 715.

 

 

Department of Ophthalmology, TN Medical College and BYL Nair Ch. Hospital, Mumabi Central, Mumbai 400 008.

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