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Year : 2002  |  Volume : 50  |  Issue : 4  |  Page : 322-323

Congenital hydrocephalus associated with congenital glaucoma and natal teeth

Jasti V Ramanamma Children's Eye Care Centre, L V Prasad Eye Institute, L V Prasad Marg, Banjara Hills, Hyderabad-500 034, India

Correspondence Address:
Anil K Mandal
Jasti V Ramanamma Children's Eye Care Centre, L V Prasad Eye Institute, L V Prasad Marg, Banjara Hills, Hyderabad-500 034
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Source of Support: None, Conflict of Interest: None

PMID: 12532500

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We report the first described association of natal teeth with congenital hydrocephalus and congenital glaucoma, anterior segment dysgenesis with nonattachment of the retina. The clinical findings support a diagnosis of Walker-Warburg syndrome. The forkhead 7 transcription factor gene is proposed as a candidate gene for this syndrome.

Keywords: Congenital glaucoma, congenital hydrocephalus, Walker-Warburg Syndrome, natal teeth

How to cite this article:
Mandal AK, Hornby SJ, Jones R B. Congenital hydrocephalus associated with congenital glaucoma and natal teeth. Indian J Ophthalmol 2002;50:322-3

How to cite this URL:
Mandal AK, Hornby SJ, Jones R B. Congenital hydrocephalus associated with congenital glaucoma and natal teeth. Indian J Ophthalmol [serial online] 2002 [cited 2020 Jun 2];50:322-3. Available from: http://www.ijo.in/text.asp?2002/50/4/322/14757

The association of primary congenital glaucoma and natal teeth has been reported.[1] We report a case of congenital glaucoma with natal teeth, congenital hydrocephalus, and anterior segment dysgenesis with nonattachment of the retina consistent with the clinical diagnosis of Walker-Warburg Syndrome (WWS).

  Case report Top

Following an uneventful pregnancy and labour, a 35-year-old woman of South Indian origin delivered a full-term male child weighing 2850 gms. There was no known parental consanguinity. An enlarged head was noted soon after birth and a paediatric neurologist diagnosed hydrocephalus. The child was not on any treatment but was kept under observation for hydrocephalus. Two erupted lower central incisor teeth were present at birth ([Figure - 1]) and fell out spontaneously at the age of 4 months. The baby was referred to an ophthalmologist at 2 months, when both eyes were noted to be increasing in size and the corneas were cloudy.

Ocular examination revealed bilateral severe corneal oedema ([Figures:1 and 2]). The horizontal corneal diameter was 11.5 mm in the right and 14.0 mm in the left eye.

Intraocular pressure (IOP) as measured by a Perkins hand-held applanation tonometer under general anaesthesia was 30 mmHg in the right eye and 38 mmHg in the left eye. The anterior chambers were deep and quiet. Gonioscopic examination with Koeppe lens showed an abnormal angle with multiple prominent iris processes and the iris inserted flatly into the trabecular meshwork. Fundus examination showed a cup-disc ratio of 0.4:1 in the left eye and retinal detachment in the right eye. The child underwent primary combined trabeculotomy-trabeculectomy in both eyes in separate operative sessions. Six months after surgery, examination under inhalation anaesthesia (1% halothane) showed IOP without any medication at 14 mmHg in the right eye and 12 mmHg in the left eye. Both the eyes regained normal corneal clarity, and there was no change in corneal diameter after surgery ([Figure:3]).

  Discussion Top

The clinical findings of this case are consistent with Walker-Warburg Syndrome (WWS). This is a congenital autosomal recessive disorder of eye and brain dysgenesis and abnormalities of the muscle fibres. It was first described by Walker in 1942 as combination of agyria, hydrocephalus and eye malformation.[2] In 1971, Warburg described a syndrome consisting of severe mental retardation, hydrocephalus, microphthalmia and congenital retinal detachment.[3] Since then several names have been proposed for this phenotypically diverse syndrome including H.A.R.D. ± E syndrome (hydrocephalus, agyria, retinal dysplasia with or without encephalocoele), Walker's lissencephaly, or Warburg syndrome.[4]

The most typical anomalies of the CNS are hydrocephalus, agyria, and cerebro -or cerebellar dysplasia. The encephalocele could be an additional association in less than 50% of the cases. Our patient had typical hydrocephalus. But detection of CNS abnormalities would have required neuroimaging, which was not performed in this case.[4] Ocular malformations are multiple and include corneal opacities, Peter's anomaly, iridocorneal angle abnormalities leading to buphthalmos, cataract, persistent hyperplastic primary vitreous, retinal dysplasia, retinal non-attachment and microphthalmos.[5]

This syndrome may be the same condition as cerebro-ocular muscular syndrome (COMS). Although muscle abnormalities are commonly associated with this syndrome, creatine kinase and even muscle biopsy can be normal in the first year of life. Muscle investigations were not carried out in the present case.[6]

To our knowledge this is the first report of WWS associated with neonatal teeth (Medline search). In lower vertebrates, lower deciduous incisors are normally erupted at birth; but natal teeth are rare in humans. The reported incidence varies between one in 2,000 to 6,000 live births, and may be related to superficial positioning of the tooth germs in relation to the bone.[7]

WWS syndrome is not compatible with life; most of the infants are stillborn or die in the perinatal period. The mean survival time is 18 weeks.[4] The survivors are usually severely mentally retarded. Our patient survived beyond 18 weeks. The existence of familial cases and parental consanguinity in some cases support the hypothesis that WWS is an autosomal recessive condition.[8] There was no known parental consanguinity in the present case although the parents came from a community where consanguinity is common.

Many important genes in eye development are part of the family of transcription factor genes which contain DNA binding sites. They are regulatory genes.[9] Mutations in the forkhead-like 7 (FKHL7) gene on chromosome 6p25 have been shown to cause autosomal dominant iridogoniodysgenesis anomaly (IGDA) as a result of aberrant migration or terminal induction of the neural crest cells involved in the formation of the anterior chamber of the eye.[10] Patients with IGDA who are heterozygous for FKHL7 mutations have anterior segment defects and glaucoma. The human homozygous phenotype has not yet been identified. Phenotypes that are the result of gene knockout experiments in mice have helped identify candidate genes for human congenital malformation syndromes. Mice completely lacking Mf1, which is the mouse homologue of FKHL7, have hydrocephalus, anterior segment eye defects and multiple skeletal abnormalities.[11] By analogy, WWS may possibly represent the human homozygous form of IGDA, and the FKHL7 gene could be a candidate gene for this recessive syndrome.

  References Top

Madal AK. Primary congenital glaucoma and erupted teeth (natal teeth) in the newborn: A report of two cases. Ophthalmic Surg Lasers 2001;32:419-21.  Back to cited text no. 1
Walker B. Lissencephaly. Arch Neurol Psychiatry 1942; 48: 13-29.  Back to cited text no. 2
Warburg M. The heterogeneity of microphthalmia in the mentally retarded. Birth Defects. 1971;7: 136-54.  Back to cited text no. 3
Dobyns WB, Pagon RA, Armstrong D, et al. Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet 1989; 32: 195-210.  Back to cited text no. 4
Alfieri G, Campana G, Valentini G. The anterior segment anomalies in the Warburg syndrome. A study of new cases. Ophthalmic Paediatr Genet. 1985; 6: 141-48.  Back to cited text no. 5
Chitayat D, Toi A, Babul R, et al. Prenatal diagnosis of retinal nonattachment in the Walker-Warburg syndrome. Am J Med Genet 1995; 56: 351-58.  Back to cited text no. 6
Leung AKC. Natal teeth. Am J Dent Clin 1986; 140: 249-51.  Back to cited text no. 7
Pagon RA, Clarren SK, Milam DF, Jr., Hendrickson AE. Autosomal recessive eye and brain anomalies: Warburg syndrome. J Pediatr 1983; 102: 542-46.  Back to cited text no. 8
Freund C, Horsford DJ, McInnes RR. Transcription factor genes and the developing eye: A genetic perspective. Hum Mol Genet 1996; 5: 1471-88.  Back to cited text no. 9
Mears AJ, Jordan T, Mirzayans F, et al. Mutations of the forkhead/ winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. Am J Hum Genet 1998; 63: 1316-28.  Back to cited text no. 10
Hong HK, Lass JH, Chakravarti A. Pleiotropic skeletal and ocular phenotypes of the mouse mutation congenital hydrocephalus (ch/ Mf1) arise from a winged helix/forkhead transcription factor gene. Hum Mol Genet 1999; 8: 625-37.  Back to cited text no. 11


  [Figure - 1]

This article has been cited by
1 Prevalence of oral abnormalities in a Turkish newborn population
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2 Natal and neonatal teeth | [Natálne a neonatálne zuby]
Kováč, J., Kováč, D.
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