|Year : 1957 | Volume
| Issue : 1 | Page : 1-5
King Edward Memorial Hospital, Bombay-12, India
|Date of Web Publication||9-May-2008|
M V Divekar
King Edward Memorial Hospital, Bombay-12
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Divekar M V. Waardenburg's Syndrome. Indian J Ophthalmol 1957;5:1-5
Waardenburg (1951) described a clinical syndrome which consisted of developmental anomalies of the eyelids, eyebrows and nose root associated with pigmentary defects of iris and congenital deafness.
Van de Hoeve (1916) had described a smaller part of this anomaly, consisting of a markedly increased distance between the inner angles of eyelids and of inferior lacrimal puncta. The puncta may lie in front of the cornea and docryocystitis may result from interference with lacrimal drainage. It is important to emphasise that in this anomaly the interpupillary and outer canthal distances lie within normal range of variation. In hypertelorism the converse is the case. [Figure - 1].
A report of a similar case studied at K.E.M. Hospital. Bombay is given in the present communication and a few of its atypical features are discussed.
A female child aged 13 months, was admitted with the history of fits of 3 months' duration. Four months prior to the onset of fits the child had measles. The recovery was uneventful. A month later she started getting fits. The seizure consisted of sudden tonic contraction of extensor muscles of neck, and both upper and lower limbs on left side, associated with conjugate deviation of head and eyes to the right side. The seizure used to last for half a minute and occasionally recurred in succession for 15-20 minutes. The frequency was 4 to 5 times per day. There was no loss of consciousness, urinary incontinence nor epileptic cry during the seizure.
She was born after a normal delivery. The developmental milestones were not attained. She was unable to hold her head and turn to her sides while lying in bed. Only 3 incisor teeth were cut at the age of 13 months. There was no consanguinity among parents. There was no history of similar illness nor deaf-mutism in the family.
On examination, the forehead was narrow and the skull microcephalic.
(Circumference : 35 cms.). The bridge of the root of the nose was hyperplastic and inner canthi were widely separated. [Figure - 2]. The lacrimal puncta were only slightly displaced. The interpupillary distance and the distance between the outer canthi were within normal range. There were no pigmentary anomalies of the iris. The head hair and eyebrows were normal. Neurological examination showed bilateral primary optic atrophy left sided hemiparesis. and extensor type of Babinsky's response on both sides. Tests for hearing showed bilateral deafness. Other systems were normal. Skiagrams of the skull showed absence of ethmoidal plates of frontal bones. [Figure - 3]. Air encephalography showed atrophy of frontal lobes and porencephaly. [Figure - 4] in the frontoparietal region. Skiagiams of spine. ends of long bones and chest were normal. Electroencephalic tracing showed an epileptic focus in the right frontal region. Alpha waves were present. The spinal fluid examination was normal and Wassermann reaction negative. Serum proteins and cholesterol levels were within normal limits. The seizures were controlled with phenobarbitone.
| Discussion|| |
Waardenburg (1951) in his study of 161 affected individuals has described the following features in this polymorphic syndrome:
(I) Lateral displacement of medial canthi and lacrimal puncta were a constant feature observed in 159 out of 161 cases. The dystopia, when marked sometimes gives an illusion of convergent squint. Sometimes the dystopia is unilateral or more marked on one side and may be associated with facial asymmetry, and acrocephaly.
(2) Hyperplastic broad nasal root was seen in 78% of cases.
(3) Hyperplasia of eyebrows with medial fusion was seen in 45%
(4) Heterochromia iridium was seen either as a striking or minimal anomaly in 25%. Majority showed blue sectors, sometimes in both irides at symmetrical situations. Occasionally it was unilateral or asymmetrical. On slit lamp examination Waardenburg noticed a deficiency of the tissue leaf between the epithelial layer and anterior covering membrane.
(5) White forelock was seen in 17% of cases. Klein (1950) and Mende (1926) have recorded partial albinism in a few cases. Mazzini (1924) assumes a common sympathetic nervous origin for the pigmentary defects of iris, hair and skin and he cites a similar anomaly found in lower mammals.
(6) Deaf-mutism is the most serious complication of this syndrome although it was present only in 20% of the cases. As a matter of fact, this feature served as the starting point for Waardenburg to study this syndrome extensively amongst 1050 deaf-mutes segregated in 5 Dutch institutions. He estimated that about 1.43 per cent, of all deaf-mutes in the Netherlands, owe their deafness to the irregularly expressed and genetically dominant form in this syndrome. In the recessive type of deaf-mutism there may be primary or secondary dystrophy of sense elements in acoustic labyrinth. The vestibular function is usually intact. In the dominant type there is hypoplasia of bony cochlea particularly the modiolus. The vestibular function is intact. Among the lower mammals: especially the blue-eyed cats and Dalmation dogs which exhibit a pigmentary anomaly of the iris associated with deafness, histological research has shown generalised hypoplasia of the entire temporal lobe. Some investigators have found peripheral changes and do not assume a primarily central origin of the disorder. Perhaps both central and peripheral types exist.
| Genetic Aspect of the Syndrome|| |
Van der Hoeve assumed that the anomaly resulted from elongation of the inferior canaliculi. Waardenburg is of the opinion that these features are normal in the fetus and the anomaly is more likely to be due to fixation of the embryological characteristics inherited in a dominant manner.
| Comments on the Case|| |
In the case reported above there were congenital deafness. hyperplastic broad nasal root, lateral displacement of medial canthi without much displacement of lacrimal puncta. In addition there was agenesis of ethmoidal plates of frontal bones. This suggests early arrest of development in this anomaly. Whether the porencephaly and optic atrophy were due to arrest of development or due to measles encephalitis is a debatable point. It is not improbable that epileptic seizures were provoked early after measles. The anomalies of skull found in the present case were not observed in Waardenburg's series. However Klein has recorded a case of a similar syndrome associated with deformities of skull, nose root, teeth, jaws and congenital amyoplasias of various skeletal muscle groups and rigidity of joints. Histological research in mammals exhibiting similar syndrome, is not conclusive. Various investigators have found more or less extensive degenerative changes in the brains. One cannot however generalise and assume a primary central degenerative process. The syndrome has been postulated to be akin to "status dysraphicus", and the pigmentary defects of skin, hair and iris are attributed to insufficient closure of the neural groove. Passow (1933) and Waardenburg (1951) view such possibility with great suspicion. The pathogenetic mechanism requires further studies.
I am grateful to Dr. J. K. Mehta. M.D., M.R.C.P., Honorary Physician. K.E.M. Hospital, Bombay-12, for his kind permission to report the case under his care.
| Summary|| |
A case of Waardenburg's syndrome, presenting broad nasal root, lateral displacement of medial canthi and deafness, is reported. This case has in addition agenesis of ethmoidal plates of the frontal bone frontal lobe atrophy and porencephaly associated with epilepsy.
Genetic aspect and pathogenetic mechanism are reviewed.
| References|| |
Klein, D. (1950). Helvet. paediat. acte. 5, 38-58. Quoted by 6.
Mazzini, G. (1924). Riv. biol. 6, 413-439. Quoted by 6.
Mende. Z. (1926). Arch. Kinderh. 79, 214-222. Quoted hp 6.
Passow. A. (1933). Arch. Augenh. 107, 1-51. Quoted bye 6.
Van de Hoeve. J. (1916). Klin. Mbl. Augenh. 56. 232-238. Quoted by 6.
Waardenburg. P. J. (1951). Am. J. of Human Genetus. 3, 195-253.
[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4]